#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBE4B	10277	broad.mit.edu	37	1	10165755	10165755	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:10165755C>G	ENST00000253251.8	+	6	1601	c.762C>G	c.(760-762)agC>agG	p.S254R	UBE4B_ENST00000343090.6_Missense_Mutation_p.S254R|UBE4B_ENST00000377157.3_Missense_Mutation_p.S138R					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGGAACAAGCCCCATGTTCT	0.488																																							uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(760-762)AGC>AGG		ubiquitination factor E4B isoform 1							137.0	107.0	117.0					1																	10165755		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10165755C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.762C>G	1.37:g.10165755C>G	ENSP00000253251:p.Ser254Arg					UBE4B_uc001aqr.3_Missense_Mutation_p.S254R|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	p.S254R	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	6	1475	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	254						Missense_Mutation	SNP	ENST00000253251.8	37	c.762C>G	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005087	0.74932	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.59083	0.59;0.66;0.29	5.62	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.39898	1.24	0.33651	D	0.608435	D;D	0.65815	0.995;0.994	D;D	0.72982	0.979;0.975	T	0.70004	-0.4991	10	0.39692	T	0.17	-19.3262	9.8043	0.40783	0.0:0.7879:0.0:0.2121	.	254;254	O95155;O95155-2	UBE4B_HUMAN;.	R	254;138;254	ENSP00000253251:S254R;ENSP00000366362:S138R;ENSP00000343001:S254R	ENSP00000253251:S254R	S	+	3	2	UBE4B	10088342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.884000	0.28214	0.709000	0.31976	0.557000	0.71058	AGC		0.488	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		9	40	0	0	0	0.006214	0	9	40				
UBE4B	10277	broad.mit.edu	37	1	10165759	10165759	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:10165759A>G	ENST00000253251.8	+	6	1605	c.766A>G	c.(766-768)Atg>Gtg	p.M256V	UBE4B_ENST00000343090.6_Missense_Mutation_p.M256V|UBE4B_ENST00000377157.3_Missense_Mutation_p.M140V					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AACAAGCCCCATGTTCTGCAG	0.493																																							uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(766-768)ATG>GTG		ubiquitination factor E4B isoform 1							132.0	104.0	113.0					1																	10165759		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10165759A>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.766A>G	1.37:g.10165759A>G	ENSP00000253251:p.Met256Val					UBE4B_uc001aqr.3_Missense_Mutation_p.M256V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	p.M256V	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	6	1479	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	256						Missense_Mutation	SNP	ENST00000253251.8	37	c.766A>G	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438296	0.43326	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50001	0.97;0.99;0.76	5.62	5.62	0.85841	.	0.036858	0.85682	D	0.000000	T	0.39226	0.1070	L	0.39898	1.24	0.33064	D	0.534451	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.45279	-0.9272	10	0.14252	T	0.57	-25.6913	15.8344	0.78787	1.0:0.0:0.0:0.0	.	256;256	O95155;O95155-2	UBE4B_HUMAN;.	V	256;140;256	ENSP00000253251:M256V;ENSP00000366362:M140V;ENSP00000343001:M256V	ENSP00000253251:M256V	M	+	1	0	UBE4B	10088346	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.862000	0.62976	2.133000	0.65898	0.455000	0.32223	ATG		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		9	39	0	0	0	0.006214	0	9	39				
C1orf127	148345	broad.mit.edu	37	1	11007869	11007869	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:11007869C>A	ENST00000377008.4	-	11	2268	c.1822G>T	c.(1822-1824)Gtg>Ttg	p.V608L	C1orf127_ENST00000377004.4_Missense_Mutation_p.V775L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	608										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCAAGCTCCACCAGGCTGGGT	0.652																																							uc010oao.1		NA																	0				ovary(1)	1						c.(1876-1878)GTG>TTG		hypothetical protein LOC148345							32.0	31.0	31.0					1																	11007869		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11007869C>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1822G>T	1.37:g.11007869C>A	ENSP00000366207:p.Val608Leu					C1orf127_uc001arr.1_Missense_Mutation_p.V608L|C1orf127_uc001ars.1_Missense_Mutation_p.V600L	p.V626L	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1881	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	626					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1876G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.700080|2.700080	0.48307|0.48307	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.27256|.	1.68;1.68|.	4.17|4.17	-1.26|-1.26	0.09376|0.09376	.|.	1.309110|.	0.05697|.	N|.	0.593371|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.002;0.004|.	B;B;B|.	0.08055|.	0.003;0.002;0.003|.	T|T	0.26849|0.26849	-1.0091|-1.0091	10|5	0.36615|.	T|.	0.2|.	0.3686|0.3686	4.0447|4.0447	0.09768|0.09768	0.0:0.3468:0.344:0.3091|0.0:0.3468:0.344:0.3091	.|.	626;600;608|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	L|C	775;608|609;726	ENSP00000366203:V775L;ENSP00000366207:V608L|.	ENSP00000366203:V775L|.	V|W	-|-	1|3	0|0	C1orf127|C1orf127	10930456|10930456	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.154000|-0.154000	0.10130|0.10130	-0.120000|-0.120000	0.11809|0.11809	0.591000|0.591000	0.81541|0.81541	GTG|TGG		0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		4	16	1	0	0.00909568	0.009096	0.00938674	4	16				
PTCHD2	57540	broad.mit.edu	37	1	11577656	11577656	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:11577656C>A	ENST00000294484.6	+	7	2024	c.1886C>A	c.(1885-1887)aCc>aAc	p.T629N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T629N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	629					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)			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)		TCCTGCCAGACCAGGTAAGTC	0.597																																							uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1885-1887)ACC>AAC		patched domain containing 2							38.0	41.0	40.0					1																	11577656		1989	4163	6152	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11577656C>A	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.1886C>A	1.37:g.11577656C>A	ENSP00000294484:p.Thr629Asn					PTCHD2_uc001asi.1_Missense_Mutation_p.T629N	p.T629N	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)	7	2024	+	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)	629			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1886C>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259074	0.23051	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85484	-1.99;-1.99	5.67	2.67	0.31697	.	1.092760	0.06771	N	0.783428	T	0.68302	0.2986	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.50608	-0.8808	10	0.12766	T	0.61	-12.7437	10.2956	0.43623	0.2487:0.5106:0.2407:0.0	.	629	Q9P2K9	PTHD2_HUMAN	N	629	ENSP00000294484:T629N;ENSP00000374226:T629N	ENSP00000294484:T629N	T	+	2	0	PTCHD2	11500243	0.257000	0.24022	0.931000	0.37212	0.735000	0.41995	0.675000	0.25232	0.287000	0.22375	0.561000	0.74099	ACC		0.597	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		11	24	1	0	4.3838e-07	0.001855	5.24836e-07	11	24				
HNRNPCL1	343069	broad.mit.edu	37	1	12907748	12907748	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:12907748G>T	ENST00000317869.6	-	2	620	c.395C>A	c.(394-396)cCt>cAt	p.P132H		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	132						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGGAGGAGGAGGAGGTACACG	0.498																																							uc009vno.2		NA																	0					0						c.(394-396)CCT>CAT		heterogeneous nuclear ribonucleoprotein C-like							94.0	93.0	93.0					1																	12907748		2203	4299	6502	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907748G>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.395C>A	1.37:g.12907748G>T	ENSP00000365370:p.Pro132His					HNRNPCL1_uc010obf.1_Missense_Mutation_p.P132H	p.P132H	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	490	-			132					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.395C>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	14.05	2.418634	0.42918	.	.	ENSG00000179172	ENST00000317869	T	0.14893	2.47	1.09	1.09	0.20402	.	0.095563	0.41605	U	0.000849	T	0.35740	0.0942	M	0.80616	2.505	0.47778	D	0.999519	D	0.71674	0.998	D	0.65987	0.94	T	0.19582	-1.0301	10	0.62326	D	0.03	.	8.1133	0.30928	0.0:0.0:1.0:0.0	.	132	O60812	HNRCL_HUMAN	H	132	ENSP00000365370:P132H	ENSP00000365370:P132H	P	-	2	0	HNRNPCL1	12830335	0.998000	0.40836	0.063000	0.19743	0.038000	0.13279	1.825000	0.39081	0.916000	0.36871	0.416000	0.27883	CCT		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		29	50	1	0	3.73988e-18	0.00632	6.06849e-18	29	50				
PADI1	29943	broad.mit.edu	37	1	17556647	17556647	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:17556647A>G	ENST00000375471.4	+	9	1089	c.997A>G	c.(997-999)Aac>Gac	p.N333D		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	333					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATTGAAAGCCAACTGCAAGCT	0.527																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NA																	0					0						c.(997-999)AAC>GAC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						102.0	96.0	98.0					1																	17556647		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17556647A>G	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.997A>G	1.37:g.17556647A>G	ENSP00000364620:p.Asn333Asp						p.N333D	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	9	1089	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	333					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.997A>G	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	5.849	0.340901	0.11069	.	.	ENSG00000142623	ENST00000375471	T	0.23147	1.92	4.99	2.3	0.28687	Protein-arginine deiminase, C-terminal (1);	0.243724	0.42420	N	0.000705	T	0.15652	0.0377	L	0.28608	0.87	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.06844	-1.0804	10	0.31617	T	0.26	-30.725	6.498	0.22153	0.6266:0.0:0.3734:0.0	.	333	Q9ULC6	PADI1_HUMAN	D	333	ENSP00000364620:N333D	ENSP00000364620:N333D	N	+	1	0	PADI1	17429234	0.987000	0.35691	1.000000	0.80357	0.067000	0.16453	0.804000	0.27098	0.844000	0.35094	0.383000	0.25322	AAC		0.527	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		15	58	0	0	0	0.004007	0	15	58				
ARID1A	8289	broad.mit.edu	37	1	27097658	27097658	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:27097658G>T	ENST00000324856.7	+	12	3618	c.3247G>T	c.(3247-3249)Ggc>Tgc	p.G1083C	ARID1A_ENST00000457599.2_Missense_Mutation_p.G1083C|ARID1A_ENST00000374152.2_Missense_Mutation_p.G700C|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1083	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAATGTGGGCACATCAAG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3247-3249)GGC>TGC		AT rich interactive domain 1A isoform a							82.0	75.0	77.0					1																	27097658		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097658G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3247G>T	1.37:g.27097658G>T	ENSP00000320485:p.Gly1083Cys					ARID1A_uc001bmt.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmu.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmw.1_Missense_Mutation_p.G700C|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	p.G1083C	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3620	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1083			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3247G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344431	0.82022	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.46063	0.88;0.88;0.88	5.33	5.33	0.75918	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66292	-0.5960	10	0.56958	D	0.05	-10.4789	19.2102	0.93751	0.0:0.0:1.0:0.0	.	1083;1083;737	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	C	1083;1083;700	ENSP00000320485:G1083C;ENSP00000387636:G1083C;ENSP00000363267:G700C	ENSP00000320485:G1083C	G	+	1	0	ARID1A	26970245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.774000	0.95407	0.655000	0.94253	GGC		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		13	24	1	0	4.7546e-09	0.004007	6.13344e-09	13	24				
GMEB1	10691	broad.mit.edu	37	1	29030811	29030811	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:29030811C>T	ENST00000294409.2	+	8	958	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GMEB1_ENST00000361872.4_Missense_Mutation_p.R280W|GMEB1_ENST00000373816.1_Missense_Mutation_p.R280W|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	290					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTCAGCAGCGGCTCATCCA	0.473																																							uc001bra.2		NA																	0					0						c.(868-870)CGG>TGG		glucocorticoid modulatory element binding							101.0	105.0	103.0					1																	29030811		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29030811C>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.868C>T	1.37:g.29030811C>T	ENSP00000294409:p.Arg290Trp					GMEB1_uc001bqz.2_Missense_Mutation_p.R280W|GMEB1_uc001brb.2_Missense_Mutation_p.R280W	p.R290W	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	8	1006	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	290					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.868C>T	CCDS327.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008457	0.75046	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.68025	-0.3;-0.3;-0.29	6.04	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.72894	2.215	0.27539	N	0.950851	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.73898	-0.3837	10	0.87932	D	0	-6.0258	13.9349	0.64020	0.4796:0.5204:0.0:0.0	.	290;280	Q9Y692;B1AT47	GMEB1_HUMAN;.	W	280;256;280;290	ENSP00000362922:R280W;ENSP00000355186:R280W;ENSP00000294409:R290W	ENSP00000294409:R290W	R	+	1	2	GMEB1	28903398	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.212000	0.42835	0.861000	0.35504	-0.175000	0.13238	CGG		0.473	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		3	50	0	0	0	0.009096	0	3	50				
C1orf94	84970	broad.mit.edu	37	1	34663274	34663274	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:34663274A>G	ENST00000488417.1	+	2	889	c.769A>G	c.(769-771)Aag>Gag	p.K257E	C1orf94_ENST00000373374.3_Missense_Mutation_p.K67E	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	257										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCCTGACAACAAGAATGTGCT	0.557																																							uc001bxs.3		NA																	0					0						c.(199-201)AAG>GAG		hypothetical protein LOC84970 isoform b							90.0	80.0	83.0					1																	34663274		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663274A>G	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.769A>G	1.37:g.34663274A>G	ENSP00000435634:p.Lys257Glu					C1orf94_uc001bxt.2_Missense_Mutation_p.K257E	p.K67E	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	598	+		Myeloproliferative disorder(586;0.0393)	67					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.199A>G	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466686	0.43839	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.37584	1.19;1.19	4.88	4.88	0.63580	.	0.411843	0.23228	N	0.050481	T	0.33089	0.0851	L	0.55481	1.735	0.32467	N	0.543334	P	0.44139	0.827	B	0.38500	0.275	T	0.54057	-0.8350	10	0.66056	D	0.02	-8.881	10.8776	0.46919	1.0:0.0:0.0:0.0	.	257	Q6P1W5	CA094_HUMAN	E	67;257	ENSP00000362472:K67E;ENSP00000435634:K257E	ENSP00000362472:K67E	K	+	1	0	C1orf94	34435861	0.995000	0.38212	0.997000	0.53966	0.015000	0.08874	2.697000	0.47060	1.822000	0.53115	0.460000	0.39030	AAG		0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		12	28	0	0	0	0.00245	0	12	28				
SCMH1	22955	broad.mit.edu	37	1	41536268	41536268	+	Splice_Site	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:41536268T>A	ENST00000326197.7	-	9	1373	c.1074A>T	c.(1072-1074)acA>acT	p.T358T	SCMH1_ENST00000372595.1_Splice_Site_p.T297T|SCMH1_ENST00000361705.3_Splice_Site_p.T311T|SCMH1_ENST00000337495.5_Splice_Site_p.T368T|SCMH1_ENST00000361191.5_Splice_Site_p.T297T|SCMH1_ENST00000397171.2_Splice_Site_p.T297T|SCMH1_ENST00000397174.2_Splice_Site_p.T338T|SCMH1_ENST00000372596.1_Splice_Site_p.T297T|SCMH1_ENST00000372597.1_Splice_Site_p.T311T|SCMH1_ENST00000456518.2_Splice_Site_p.T200T|SCMH1_ENST00000402904.2_Splice_Site_p.T358T					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGCTCTTACCTGTTGGGGCCT	0.537																																							uc001cgo.2		NA																	0					0						c.(1072-1074)ACA>ACT		sex comb on midleg 1 isoform 1							163.0	144.0	151.0					1																	41536268		2203	4300	6503	SO:0001630	splice_region_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41536268T>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1075+1A>T	1.37:g.41536268T>A						SCMH1_uc010ojr.1_Silent_p.T200T|SCMH1_uc001cgp.2_Silent_p.T297T|SCMH1_uc001cgr.2_Silent_p.T297T|SCMH1_uc001cgs.2_Silent_p.T368T|SCMH1_uc001cgt.2_Silent_p.T297T|SCMH1_uc001cgq.2_Silent_p.T311T|SCMH1_uc010ojs.1_RNA	p.T358T	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN			10	1385	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	358						Silent	SNP	ENST00000326197.7	37	c.1074A>T	CCDS30688.1																																																																																				0.537	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		Silent	24	68	0	0	0	0.008361	0	24	68				
COA7	65260	broad.mit.edu	37	1	53153487	53153487	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:53153487C>T	ENST00000371538.3	-	3	640	c.601G>A	c.(601-603)Gat>Aat	p.D201N	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCATCCTTATCAACACCATCC	0.507																																							uc001cui.1		NA																	0					0						c.(601-603)GAT>AAT		hypothetical protein LOC65260							144.0	129.0	134.0					1																	53153487		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53153487C>T																												ENST00000371538.3:c.601G>A	1.37:g.53153487C>T	ENSP00000360593:p.Asp201Asn						p.D201N	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			3	641	-			201			Sel1-like 5.			Missense_Mutation	SNP	ENST00000371538.3	37	c.601G>A	CCDS570.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206011	0.39003	.	.	ENSG00000162377	ENST00000371538	T	0.50813	0.73	5.69	2.71	0.32032	Tetratricopeptide-like helical (1);	0.637285	0.17430	N	0.174491	T	0.28896	0.0717	N	0.17082	0.46	0.34530	D	0.709142	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	10	0.28530	T	0.3	-10.3075	9.3105	0.37900	0.0:0.7487:0.1188:0.1325	.	201	Q96BR5	SELR1_HUMAN	N	201	ENSP00000360593:D201N	ENSP00000360593:D201N	D	-	1	0	SELRC1	52926075	0.960000	0.32886	0.631000	0.29282	0.593000	0.36681	2.953000	0.49105	0.734000	0.32515	-0.310000	0.09108	GAT		0.507	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			10	63	0	0	0	0.008291	0	10	63				
SSBP3	23648	broad.mit.edu	37	1	54708962	54708962	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:54708962C>G	ENST00000371320.3	-	10	1072	c.662G>C	c.(661-663)aGc>aCc	p.S221T	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.S111T|SSBP3_ENST00000357475.4_Missense_Mutation_p.S201T|SSBP3_ENST00000371319.3_Missense_Mutation_p.S194T	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	221	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTCATGCCGCTGCCGTAATT	0.552																																							uc001cxe.2		NA																	0					0						c.(661-663)AGC>ACC		single stranded DNA binding protein 3 isoform a							148.0	155.0	153.0					1																	54708962		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708962C>G		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.662G>C	1.37:g.54708962C>G	ENSP00000360371:p.Ser221Thr					SSBP3_uc001cxf.2_Missense_Mutation_p.S201T|SSBP3_uc001cxg.2_Missense_Mutation_p.S194T	p.S221T	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN			10	960	-			221			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.662G>C	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	17.23	3.335901	0.60853	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.176947	0.48767	U	0.000167	T	0.53094	0.1775	L	0.33485	1.01	0.42281	D	0.99209	B;B;B	0.25312	0.066;0.004;0.123	B;B;B	0.32022	0.068;0.008;0.139	T	0.48479	-0.9032	9	0.15499	T	0.54	-4.7545	17.3039	0.87189	0.0:1.0:0.0:0.0	.	194;201;221	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	T	111;221;194;201;52;84	.	ENSP00000350067:S201T	S	-	2	0	SSBP3	54481550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.316000	0.65815	2.493000	0.84123	0.479000	0.44913	AGC		0.552	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		97	207	0	0	0	0.01441	0	97	207				
C8A	731	broad.mit.edu	37	1	57383331	57383331	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:57383331C>T	ENST00000361249.3	+	11	1793	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	566	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						GACAATCCAGCACCTCAGAAT	0.582																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1696-1698)GCA>GTA		complement component 8, alpha polypeptide							67.0	65.0	66.0					1																	57383331		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383331C>T	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.1697C>T	1.37:g.57383331C>T	ENSP00000354458:p.Ala566Val						p.A566V	NM_000562	NP_000553	P07357	CO8A_HUMAN			11	1829	+			566			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1697C>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086483	0.36855	.	.	ENSG00000157131	ENST00000361249	T	0.18810	2.19	4.82	3.88	0.44766	.	0.261775	0.43579	D	0.000557	T	0.33352	0.0860	L	0.59912	1.85	0.09310	N	1	D	0.56746	0.977	P	0.57720	0.826	T	0.06807	-1.0806	10	0.46703	T	0.11	0.0193	9.3734	0.38268	0.1627:0.6802:0.1571:0.0	.	566	P07357	CO8A_HUMAN	V	566	ENSP00000354458:A566V	ENSP00000354458:A566V	A	+	2	0	C8A	57155919	0.921000	0.31238	0.051000	0.19133	0.023000	0.10783	2.243000	0.43115	1.197000	0.43143	0.563000	0.77884	GCA		0.582	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		13	31	0	0	0	0.00499	0	13	31				
LRRC7	57554	broad.mit.edu	37	1	70509696	70509696	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:70509696A>T	ENST00000035383.5	+	20	3945	c.3915A>T	c.(3913-3915)tcA>tcT	p.S1305S	LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Silent_p.S589S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1305						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAGGTATTTCAGCAATGCATG	0.408																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3913-3915)TCA>TCT		leucine rich repeat containing 7							148.0	132.0	137.0					1																	70509696		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70509696A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3915A>T	1.37:g.70509696A>T						LRRC7_uc009wbg.2_Silent_p.S589S|LRRC7_uc001deq.2_Intron	p.S1305S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			20	3945	+			1305					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3915A>T	CCDS645.1																																																																																				0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	56	0	0	0	0.007413	0	18	56				
ELTD1	64123	broad.mit.edu	37	1	79357340	79357340	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:79357340G>C	ENST00000370742.3	-	14	1942	c.1879C>G	c.(1879-1881)Ctc>Gtc	p.L627V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	627					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGGTGCCGAGAAGGAACAGA	0.473																																							uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(1879-1881)CTC>GTC		EGF, latrophilin and seven transmembrane domain							64.0	64.0	64.0					1																	79357340		1967	4139	6106	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79357340G>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1879C>G	1.37:g.79357340G>C	ENSP00000359778:p.Leu627Val						p.L627V	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	14	2035	-			627			Helical; Name=6; (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1879C>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892314	0.72524	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.61742	0.08;0.08	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	T	0.73216	-0.4053	9	.	.	.	.	19.5833	0.95478	0.0:0.0:1.0:0.0	.	627	Q9HBW9	ELTD1_HUMAN	V	627;85	ENSP00000359778:L627V;ENSP00000383813:L85V	.	L	-	1	0	ELTD1	79129928	1.000000	0.71417	0.456000	0.27044	0.562000	0.35680	9.835000	0.99442	2.612000	0.88384	0.655000	0.94253	CTC		0.473	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		8	38	0	0	0	0.00308	0	8	38				
ABCA4	24	broad.mit.edu	37	1	94574223	94574223	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:94574223C>T	ENST00000370225.3	-	4	438	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E118K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	118					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCTGGCTCTCTGGTGCATTC	0.448																																							uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(352-354)GAG>AAG		ATP-binding cassette, sub-family A member 4							102.0	100.0	100.0					1																	94574223		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94574223C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.352G>A	1.37:g.94574223C>T	ENSP00000359245:p.Glu118Lys					ABCA4_uc010otn.1_Missense_Mutation_p.E118K	p.E118K	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	4	456	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	118			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.352G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119258	0.37436	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.96011	-3.88;-3.88	5.55	5.55	0.83447	.	0.067784	0.64402	D	0.000005	D	0.92622	0.7656	M	0.82517	2.595	0.80722	D	1	B;P	0.40000	0.113;0.698	B;B	0.35312	0.113;0.2	D	0.92934	0.6366	10	0.11485	T	0.65	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	118;118	F5H6E5;P78363	.;ABCA4_HUMAN	K	118	ENSP00000359245:E118K;ENSP00000437682:E118K	ENSP00000359245:E118K	E	-	1	0	ABCA4	94346811	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.137000	0.77295	2.622000	0.88805	0.557000	0.71058	GAG		0.448	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	42	0	0	0	0.003163	0	14	42				
AGL	178	broad.mit.edu	37	1	100316648	100316648	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:100316648A>T	ENST00000294724.4	+	2	528	c.50A>T	c.(49-51)aAa>aTa	p.K17I	AGL_ENST00000370165.3_Missense_Mutation_p.K17I|AGL_ENST00000370161.2_5'Flank|AGL_ENST00000361915.3_Missense_Mutation_p.K17I|AGL_ENST00000370163.3_Missense_Mutation_p.K17I|AGL_ENST00000361302.3_5'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	17					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAATGGAGAAACTGGAAAAG	0.358																																							uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(49-51)AAA>ATA		amylo-1,6-glucosidase,							133.0	145.0	141.0					1																	100316648		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100316648A>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.50A>T	1.37:g.100316648A>T	ENSP00000294724:p.Lys17Ile					AGL_uc001dsj.1_Missense_Mutation_p.K17I|AGL_uc001dsk.1_Missense_Mutation_p.K17I|AGL_uc001dsl.1_Missense_Mutation_p.K17I|AGL_uc001dsm.1_5'UTR	p.K17I	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	2	450	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	17			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.50A>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509647	0.44660	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.3	2.99	0.34606	.	0.101955	0.64402	D	0.000002	T	0.53367	0.1792	L	0.57536	1.79	0.80722	D	1	B	0.24823	0.112	B	0.29716	0.106	T	0.48364	-0.9042	10	0.27785	T	0.31	.	9.4696	0.38833	0.8539:0.0:0.1461:0.0	.	17	P35573	GDE_HUMAN	I	17	ENSP00000355106:K17I;ENSP00000359184:K17I;ENSP00000359182:K17I;ENSP00000294724:K17I	ENSP00000294724:K17I	K	+	2	0	AGL	100089236	1.000000	0.71417	0.999000	0.59377	0.661000	0.39034	2.639000	0.46570	0.416000	0.25844	-0.250000	0.11733	AAA		0.358	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		32	52	0	0	0	0.006999	0	32	52				
SYPL2	284612	broad.mit.edu	37	1	110022152	110022152	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:110022152A>T	ENST00000369872.3	+	6	1017	c.801A>T	c.(799-801)ggA>ggT	p.G267G	SYPL2_ENST00000401021.3_Silent_p.G203G	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	267					cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGAGCAGGGAGCAGTGGAGA	0.637																																							uc001dxp.2		NA																	0				ovary(1)	1						c.(799-801)GGA>GGT		mitsugumin 29							62.0	77.0	72.0					1																	110022152		2086	4216	6302	SO:0001819	synonymous_variant	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110022152A>T	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.801A>T	1.37:g.110022152A>T						SYPL2_uc010ovk.1_Silent_p.G203G	p.G267G	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1167	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	267			Cytoplasmic (Potential).		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	c.801A>T	CCDS41365.1																																																																																				0.637	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		15	55	0	0	0	0.007413	0	15	55				
VANGL1	81839	broad.mit.edu	37	1	116202368	116202368	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:116202368G>A	ENST00000355485.2	+	3	449	c.178G>A	c.(178-180)Gat>Aat	p.D60N	VANGL1_ENST00000310260.3_Missense_Mutation_p.D60N|VANGL1_ENST00000369510.4_Missense_Mutation_p.D60N|VANGL1_ENST00000369509.1_Missense_Mutation_p.D60N	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	60					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTGGGAAATGATTCTACTCG	0.488																																							uc001efv.1		NA																	0				central_nervous_system(1)	1						c.(178-180)GAT>AAT		vang-like 1							108.0	107.0	107.0					1																	116202368		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116202368G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.178G>A	1.37:g.116202368G>A	ENSP00000347672:p.Asp60Asn					VANGL1_uc009wgy.1_Missense_Mutation_p.D60N|VANGL1_uc001efw.1_Missense_Mutation_p.D60N	p.D60N	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	3	449	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	60			Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.178G>A	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783815	0.49891	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.35	5.35	0.76521	.	0.321128	0.33553	N	0.004782	T	0.69663	0.3136	L	0.48642	1.525	0.38025	D	0.934989	P;P	0.43231	0.763;0.801	B;B	0.38106	0.173;0.265	T	0.75402	-0.3330	10	0.51188	T	0.08	0.3795	19.0868	0.93206	0.0:0.0:1.0:0.0	.	60;60	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	N	60	ENSP00000347672:D60N;ENSP00000358523:D60N;ENSP00000310800:D60N;ENSP00000358522:D60N	ENSP00000310800:D60N	D	+	1	0	VANGL1	116003891	1.000000	0.71417	0.818000	0.32626	0.327000	0.28475	4.245000	0.58734	2.506000	0.84524	0.563000	0.77884	GAT		0.488	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			10	72	0	0	0	0.010729	0	10	72				
HRNR	388697	broad.mit.edu	37	1	152187691	152187691	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152187691A>T	ENST00000368801.2	-	3	6489	c.6414T>A	c.(6412-6414)tcT>tcA	p.S2138S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2138					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGATCTAGAGCCGTGTT	0.577																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6412-6414)TCT>TCA		hornerin							145.0	162.0	156.0					1																	152187691		1599	3262	4861	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187691A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6414T>A	1.37:g.152187691A>T							p.S2138S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6490	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2138					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6414T>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		18	577	0	0	0	0.005443	0	18	577				
FLG	2312	broad.mit.edu	37	1	152285383	152285383	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152285383G>C	ENST00000368799.1	-	3	2014	c.1979C>G	c.(1978-1980)cCc>cGc	p.P660R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	660	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.P660H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCTGGGGTGTCTGGA	0.542									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1978-1980)CCC>CGC		filaggrin							244.0	256.0	252.0					1																	152285383		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285383G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1979C>G	1.37:g.152285383G>C	ENSP00000357789:p.Pro660Arg					uc001ezv.2_5'Flank	p.P660R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2015	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		660			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1979C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	8.560	0.877498	0.17395	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	3.46	0.132	0.14762	.	.	.	.	.	T	0.00468	0.0015	L	0.38838	1.175	0.09310	N	1	B	0.22080	0.064	B	0.17433	0.018	T	0.43972	-0.9358	9	0.14252	T	0.57	.	3.6503	0.08201	0.1281:0.0:0.434:0.4379	.	660	P20930	FILA_HUMAN	R	660	ENSP00000357789:P660R	ENSP00000357789:P660R	P	-	2	0	FLG	150552007	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.959000	0.29240	0.272000	0.22027	-0.158000	0.13435	CCC		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		77	318	0	0	0	0.01441	0	77	318				
LCE2D	353141	broad.mit.edu	37	1	152636846	152636846	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152636846C>A	ENST00000368784.1	+	2	320	c.265C>A	c.(265-267)Ccc>Acc	p.P89T		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	89	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACCAGAGCCCCGATTGCTG	0.667																																							uc001fag.2		NA																	0					0						c.(265-267)CCC>ACC		late cornified envelope 2D							42.0	55.0	50.0					1																	152636846		2195	4291	6486	SO:0001583	missense	353141				keratinization			g.chr1:152636846C>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.265C>A	1.37:g.152636846C>A	ENSP00000357773:p.Pro89Thr						p.P89T	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	320	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		89			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.265C>A	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	3.165	-0.171228	0.06421	.	.	ENSG00000187223	ENST00000368784	T	0.03468	3.92	2.75	-3.93	0.04143	.	.	.	.	.	T	0.00998	0.0033	L	0.40543	1.245	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.42616	-0.9441	9	0.32370	T	0.25	.	8.5488	0.33438	0.0:0.2314:0.0:0.7686	.	89	Q5TA82	LCE2D_HUMAN	T	89	ENSP00000357773:P89T	ENSP00000357773:P89T	P	+	1	0	LCE2D	150903470	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.367000	0.01078	-0.922000	0.03789	-0.680000	0.03767	CCC		0.667	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		34	109	1	0	3.93418e-24	0.004289	6.74431e-24	34	109				
ASH1L	55870	broad.mit.edu	37	1	155408305	155408305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:155408305C>A	ENST00000368346.3	-	5	6280	c.5641G>T	c.(5641-5643)Gag>Tag	p.E1881*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1881*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1881					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTCCTTCCTCGTCTCTGTTC	0.488																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(5641-5643)GAG>TAG		absent, small, or homeotic 1-like							122.0	114.0	116.0					1																	155408305		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408305C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5641G>T	1.37:g.155408305C>A	ENSP00000357330:p.Glu1881*					ASH1L_uc001fkt.2_Nonsense_Mutation_p.E1881*	p.E1881*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6121	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1881					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.5641G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.085116	0.99718	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.78	3.87	0.44632	.	0.213240	0.39759	N	0.001264	.	.	.	.	.	.	0.41960	D	0.990703	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	11.0798	0.48053	0.0:0.9125:0.0:0.0875	.	.	.	.	X	1881	.	ENSP00000357330:E1881X	E	-	1	0	ASH1L	153674929	0.003000	0.15002	0.429000	0.26710	0.137000	0.21094	1.253000	0.32886	1.266000	0.44231	0.563000	0.77884	GAG		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		41	40	1	0	8.69298e-16	0.006999	1.35108e-15	41	40				
CD1E	913	broad.mit.edu	37	1	158325805	158325805	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:158325805A>T	ENST00000368167.3	+	4	1053	c.814A>T	c.(814-816)Acc>Tcc	p.T272S	CD1E_ENST00000434258.1_Missense_Mutation_p.T270S|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.T272S|CD1E_ENST00000444681.2_Missense_Mutation_p.T173S|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.T182S|CD1E_ENST00000368166.3_Missense_Mutation_p.T83S|CD1E_ENST00000452291.2_Missense_Mutation_p.T83S|CD1E_ENST00000368156.1_Missense_Mutation_p.T182S	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	272	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTCCGAGCAACCCTGGATGT	0.612																																							uc001fse.2		NA																	0				skin(3)	3						c.(814-816)ACC>TCC		CD1E antigen isoform a precursor							98.0	98.0	98.0					1																	158325805		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325805A>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.814A>T	1.37:g.158325805A>T	ENSP00000357149:p.Thr272Ser					CD1E_uc010pid.1_Missense_Mutation_p.T270S|CD1E_uc010pie.1_Missense_Mutation_p.T173S|CD1E_uc010pif.1_Missense_Mutation_p.T83S|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.T182S|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.T83S|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.T272S|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.T83S|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.T173S|CD1E_uc001frz.2_Missense_Mutation_p.T182S|CD1E_uc009wsw.2_Missense_Mutation_p.T30S	p.T272S	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	1053	+	all_hematologic(112;0.0378)		272			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.814A>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467984	0.26335	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.56;2.52;2.52;2.56	4.28	3.07	0.35406	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.46145	D	0.000320	T	0.05731	0.0150	N	0.25825	0.765	0.09310	N	1	B;P;P;P;B;B;B;B;B;B;B	0.41232	0.06;0.743;0.743;0.743;0.12;0.156;0.378;0.388;0.405;0.098;0.446	B;B;B;B;B;B;B;B;B;B;P	0.49226	0.118;0.345;0.345;0.345;0.22;0.343;0.116;0.169;0.323;0.216;0.603	T	0.24440	-1.0160	10	0.35671	T	0.21	-23.0739	6.9587	0.24585	0.7971:0.0:0.0:0.2029	.	83;173;270;272;173;182;83;272;272;83;182	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	S	270;173;272;83;182;83;272;182	ENSP00000401957:T270S;ENSP00000402906:T173S;ENSP00000357149:T272S;ENSP00000416228:T83S;ENSP00000357147:T182S;ENSP00000357148:T83S;ENSP00000357142:T272S;ENSP00000357138:T182S	ENSP00000357138:T182S	T	+	1	0	CD1E	156592429	0.006000	0.16342	0.569000	0.28460	0.590000	0.36582	1.120000	0.31271	1.799000	0.52666	0.460000	0.39030	ACC		0.612	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		34	155	0	0	0	0.006999	0	34	155				
OR6Y1	391112	broad.mit.edu	37	1	158517795	158517795	+	Missense_Mutation	SNP	G	G	T	rs372365884		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:158517795G>T	ENST00000302617.3	-	1	100	c.101C>A	c.(100-102)tCc>tAc	p.S34Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGGAAAATGGAGAAAAAGAG	0.443																																							uc010pil.1		NA																	0				ovary(1)	1						c.(100-102)TCC>TAC		olfactory receptor, family 6, subfamily Y,							47.0	47.0	47.0					1																	158517795		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517795G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.101C>A	1.37:g.158517795G>T	ENSP00000304807:p.Ser34Tyr						p.S34Y	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	101	-	all_hematologic(112;0.0378)		34			Helical; Name=1; (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.101C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	0.312	-0.967455	0.02232	.	.	ENSG00000197532	ENST00000302617	T	0.00433	7.43	4.91	-3.33	0.04958	.	0.545947	0.15309	N	0.269172	T	0.00073	0.0002	L	0.41492	1.28	0.09310	N	1	B	0.25955	0.138	B	0.21151	0.033	T	0.38866	-0.9641	10	0.18276	T	0.48	.	1.4736	0.02421	0.4145:0.2419:0.2199:0.1237	.	34	Q8NGX8	OR6Y1_HUMAN	Y	34	ENSP00000304807:S34Y	ENSP00000304807:S34Y	S	-	2	0	OR6Y1	156784419	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-0.160000	0.10041	-0.475000	0.06852	-0.344000	0.07964	TCC		0.443	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		9	25	1	0	5.4927e-09	0.004482	7.06792e-09	9	25				
ACKR1	2532	broad.mit.edu	37	1	159176075	159176075	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:159176075G>T	ENST00000368122.2	+	2	1525	c.846G>T	c.(844-846)ctG>ctT	p.L282L	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.L284L|DARC_ENST00000537147.1_Silent_p.L282L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		282					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGCAGGCTCTGGACCTGCTGC	0.582																																							uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(844-846)CTG>CTT		Duffy blood group antigen isoform b							146.0	151.0	149.0					1																	159176075		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176075G>T																												ENST00000368122.2:c.846G>T	1.37:g.159176075G>T						DARC_uc001ftp.3_Silent_p.L284L	p.L282L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	1086	+	all_hematologic(112;0.0429)		282			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.846G>T	CCDS1183.1																																																																																				0.582	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			119	128	1	0	4.38445e-86	0.01441	7.93816e-86	119	128				
TADA1	117143	broad.mit.edu	37	1	166839015	166839015	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:166839015G>A	ENST00000367874.4	-	2	244	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	51					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L51F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TCCTGTGTGAGAAGTCTATGA	0.353																																							uc001gdw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)CTC>TTC		transcriptional adaptor 1-like							130.0	134.0	133.0					1																	166839015		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166839015G>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.151C>T	1.37:g.166839015G>A	ENSP00000356848:p.Leu51Phe					TADA1_uc009wve.2_Missense_Mutation_p.L51F	p.L51F	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			2	335	-			51					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.151C>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090368	0.76756	.	.	ENSG00000152382	ENST00000367874	T	0.68025	-0.3	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	L	0.37697	1.125	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73827	-0.3860	9	0.72032	D	0.01	-25.4364	17.1185	0.86695	0.0:0.0:1.0:0.0	.	51;51	A8K4J9;Q96BN2	.;TADA1_HUMAN	F	51	ENSP00000356848:L51F	ENSP00000356848:L51F	L	-	1	0	TADA1	165105639	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.707000	0.92482	0.655000	0.94253	CTC		0.353	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		6	99	0	0	0	0.001168	0	6	99				
FASLG	356	broad.mit.edu	37	1	172628584	172628584	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:172628584G>T	ENST00000367721.2	+	1	427	c.243G>T	c.(241-243)ctG>ctT	p.L81L	FASLG_ENST00000340030.3_Silent_p.L81L	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	81		Cleavage; by SPPL2A. {ECO:0000305}.			activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GCACAGGCCTGTGTCTCCTTG	0.602																																					Ovarian(28;486 876 30334 44033)	Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	0				lung(2)|breast(1)	3						c.(241-243)CTG>CTT		fas ligand							140.0	126.0	131.0					1																	172628584		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628584G>T	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.243G>T	1.37:g.172628584G>T						FASLG_uc001git.2_Silent_p.L81L	p.L81L	NM_000639	NP_000630	P48023	TNFL6_HUMAN			1	400	+			81			Helical; Signal-anchor for type II membrane protein; (Potential).		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.243G>T	CCDS1304.1																																																																																				0.602	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			19	16	1	0	2.27525e-19	0.003954	3.7509e-19	19	16				
TNR	7143	broad.mit.edu	37	1	175372661	175372661	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:175372661C>A	ENST00000367674.2	-	4	1299	c.591G>T	c.(589-591)aaG>aaT	p.K197N	TNR_ENST00000263525.2_Missense_Mutation_p.K197N			Q92752	TENR_HUMAN	tenascin R	197	Cys-rich.|EGF-like 1.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCGAGCAATTCTTGCCAAACC	0.577																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(589-591)AAG>AAT		tenascin R precursor							84.0	91.0	88.0					1																	175372661		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372661C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.591G>T	1.37:g.175372661C>A	ENSP00000356646:p.Lys197Asn					TNR_uc009wwu.1_Missense_Mutation_p.K197N|TNR_uc010pmz.1_Missense_Mutation_p.K197N	p.K197N	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	672	-	Renal(580;0.146)		197			EGF-like 1.|Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.591G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920762	0.52653	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03272	3.99;3.99	6.17	5.24	0.73138	EGF-like region, conserved site (2);	0.101743	0.64402	D	0.000003	T	0.08582	0.0213	L	0.45051	1.395	0.46011	D	0.998817	D;D	0.56287	0.961;0.975	P;P	0.50970	0.655;0.521	T	0.08764	-1.0706	10	0.52906	T	0.07	.	16.3265	0.82983	0.0:0.7512:0.2488:0.0	.	197;197	B4DIX8;Q92752	.;TENR_HUMAN	N	197	ENSP00000356646:K197N;ENSP00000263525:K197N	ENSP00000263525:K197N	K	-	3	2	TNR	173639284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.087000	0.41653	1.565000	0.49641	0.655000	0.94253	AAG		0.577	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		58	177	1	0	3.7469e-33	0.01441	6.64399e-33	58	177				
PAPPA2	60676	broad.mit.edu	37	1	176640158	176640158	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:176640158C>T	ENST00000367662.3	+	4	3208	c.2044C>T	c.(2044-2046)Cac>Tac	p.H682Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.H682Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	682	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACAGTACTCACTTCCTCAA	0.517																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2044-2046)CAC>TAC		pappalysin 2 isoform 1							157.0	157.0	157.0					1																	176640158		2024	4177	6201	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640158C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2044C>T	1.37:g.176640158C>T	ENSP00000356634:p.His682Tyr					PAPPA2_uc001gky.1_Missense_Mutation_p.H682Y|PAPPA2_uc009www.2_RNA	p.H682Y	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3208	+			682			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2044C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349415	0.61183	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.80123	-1.34;1.5	5.52	4.58	0.56647	Peptidase M43, pregnancy-associated plasma-A (1);	0.115942	0.64402	D	0.000017	D	0.83834	0.5340	L	0.48642	1.525	0.31615	N	0.650997	D;D	0.71674	0.997;0.998	D;D	0.68483	0.953;0.958	D	0.84130	0.0411	10	0.59425	D	0.04	-24.4055	8.6815	0.34212	0.1524:0.7713:0.0:0.0763	.	682;682	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	682	ENSP00000356634:H682Y;ENSP00000356633:H682Y	ENSP00000356633:H682Y	H	+	1	0	PAPPA2	174906781	0.999000	0.42202	0.990000	0.47175	0.997000	0.91878	3.557000	0.53741	1.261000	0.44149	0.655000	0.94253	CAC		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	185	0	0	0	0.004007	0	14	185				
PAPPA2	60676	broad.mit.edu	37	1	176708897	176708897	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:176708897G>T	ENST00000367662.3	+	13	5098	c.3934G>T	c.(3934-3936)Gga>Tga	p.G1312*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1312					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCACTCTCTTGGTGAGTCTGA	0.483																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3934-3936)GGA>TGA		pappalysin 2 isoform 1							59.0	58.0	58.0					1																	176708897		1990	4161	6151	SO:0001630	splice_region_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176708897G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3934+1G>T	1.37:g.176708897G>T						PAPPA2_uc009www.2_RNA	p.G1312*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			13	5098	+			1312					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.3934G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	51	18.454443	0.99905	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4869	17.5513	0.87876	0.0:0.0:1.0:0.0	.	.	.	.	X	1312	.	ENSP00000356634:G1312X	G	+	1	0	PAPPA2	174975520	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	8.189000	0.89712	2.667000	0.90743	0.561000	0.74099	GGA		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		Nonsense_Mutation	9	32	1	0	2.27111e-07	0.013537	2.73807e-07	9	32				
LAMC1	3915	broad.mit.edu	37	1	183079686	183079686	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:183079686T>A	ENST00000258341.4	+	4	1175	c.918T>A	c.(916-918)aaT>aaA	p.N306K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	306	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|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-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGGTGTGTAATTGCAAACATA	0.448																																							uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(916-918)AAT>AAA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						178.0	173.0	174.0					1																	183079686		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183079686T>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.918T>A	1.37:g.183079686T>A	ENSP00000258341:p.Asn306Lys						p.N306K	NM_002293	NP_002284	P11047	LAMC1_HUMAN			4	1175	+			306			Laminin EGF-like 1.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.918T>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	9.078	0.998689	0.19121	.	.	ENSG00000135862	ENST00000258341	T	0.60548	0.18	4.87	-9.01	0.00744	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.189043	0.53938	D	0.000048	T	0.45518	0.1346	L	0.41573	1.285	0.53688	D	0.999975	B	0.22211	0.066	B	0.32928	0.155	T	0.46512	-0.9186	10	0.11182	T	0.66	.	21.4873	0.99955	0.0:0.7402:0.0:0.2598	.	306	P11047	LAMC1_HUMAN	K	306	ENSP00000258341:N306K	ENSP00000258341:N306K	N	+	3	2	LAMC1	181346309	0.923000	0.31300	0.016000	0.15963	0.852000	0.48524	0.076000	0.14712	-2.558000	0.00475	-1.889000	0.00537	AAT		0.448	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		69	106	0	0	0	0.01441	0	69	106				
FAM129A	116496	broad.mit.edu	37	1	184777292	184777292	+	Silent	SNP	G	G	A	rs147120611	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:184777292G>A	ENST00000367511.3	-	10	1444	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	417					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCAGGCGCTCGTGAAGCAGGT	0.512													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.0						uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(1249-1251)CAC>CAT		niban protein isoform 2		G		5,4401	9.9+/-24.2	0,5,2198	102.0	107.0	105.0		1251	-5.2	0.3	1	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	FAM129A	NM_052966.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		417/929	184777292	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777292G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1251C>T	1.37:g.184777292G>A						FAM129A_uc001grb.1_Silent_p.H180H|FAM129A_uc009wyh.1_Silent_p.H245H|FAM129A_uc009wyi.1_Silent_p.H215H	p.H417H	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			10	1445	-			417					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1251C>T	CCDS1364.1																																																																																				0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			4	114	0	0	0	0.009096	0	4	114				
HMCN1	83872	broad.mit.edu	37	1	185815174	185815174	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:185815174A>T	ENST00000271588.4	+	2	514	c.285A>T	c.(283-285)acA>acT	p.T95T	HMCN1_ENST00000367492.2_Silent_p.T95T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	95	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCCAGTGACAATTACCACAG	0.363																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(283-285)ACA>ACT		hemicentin 1 precursor							107.0	105.0	106.0					1																	185815174		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815174A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.285A>T	1.37:g.185815174A>T							p.T95T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			2	514	+			95			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.285A>T	CCDS30956.1																																																																																				0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	40	0	0	0	0.004482	0	7	40				
HMCN1	83872	broad.mit.edu	37	1	186022202	186022202	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:186022202G>C	ENST00000271588.4	+	43	6925	c.6696G>C	c.(6694-6696)aaG>aaC	p.K2232N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K2232N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2232	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTGGAAGAAGAAAGGTCAGT	0.308																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(6694-6696)AAG>AAC		hemicentin 1 precursor							82.0	79.0	80.0					1																	186022202		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022202G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6696G>C	1.37:g.186022202G>C	ENSP00000271588:p.Lys2232Asn						p.K2232N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			43	6925	+			2232			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6696G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602006	0.46423	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76316	-1.01;-1.01	5.18	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044178	0.85682	D	0.000000	T	0.80281	0.4594	M	0.89658	3.05	0.53688	D	0.999977	B	0.11235	0.004	B	0.17979	0.02	T	0.78344	-0.2240	10	0.62326	D	0.03	.	9.3828	0.38325	0.0762:0.1453:0.7785:0.0	.	2232	Q96RW7	HMCN1_HUMAN	N	2232	ENSP00000271588:K2232N;ENSP00000356462:K2232N	ENSP00000271588:K2232N	K	+	3	2	HMCN1	184288825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.268000	0.43338	1.145000	0.42336	0.557000	0.71058	AAG		0.308	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	74	0	0	0	0.009096	0	3	74				
HMCN1	83872	broad.mit.edu	37	1	186114890	186114890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:186114890G>T	ENST00000271588.4	+	93	14672	c.14443G>T	c.(14443-14445)Gga>Tga	p.G4815*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G4815*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4815	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACAGTGGATGGAAGTTGGGG	0.478																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(14443-14445)GGA>TGA		hemicentin 1 precursor							65.0	67.0	66.0					1																	186114890		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114890G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14443G>T	1.37:g.186114890G>T	ENSP00000271588:p.Gly4815*					HMCN1_uc001grs.1_Nonsense_Mutation_p.G384*	p.G4815*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			93	14672	+			4815			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.14443G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	56	26.768533	0.99969	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	.	.	.	X	4815	.	ENSP00000271588:G4815X	G	+	1	0	HMCN1	184381513	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.402000	0.97298	2.551000	0.86045	0.655000	0.94253	GGA		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	81	1	0	1.12685e-05	0.004482	1.29789e-05	8	81				
CRB1	23418	broad.mit.edu	37	1	197390932	197390932	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:197390932C>A	ENST00000367400.3	+	6	2109	c.1974C>A	c.(1972-1974)atC>atA	p.I658I	CRB1_ENST00000538660.1_Silent_p.I658I|CRB1_ENST00000543483.1_Missense_Mutation_p.S288Y|CRB1_ENST00000367397.1_Silent_p.I39I|CRB1_ENST00000535699.1_Silent_p.I589I|CRB1_ENST00000544212.1_Silent_p.I139I|CRB1_ENST00000367399.2_Silent_p.I546I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	658	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAGAACATCTCGTCTGGCT	0.443																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1972-1974)ATC>ATA		crumbs homolog 1 precursor							134.0	128.0	130.0					1																	197390932		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390932C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1974C>A	1.37:g.197390932C>A						CRB1_uc010poz.1_Silent_p.I589I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I546I|CRB1_uc010ppb.1_Silent_p.I658I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.I139I|CRB1_uc001gub.1_Silent_p.I307I	p.I658I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2109	+			658			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1974C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753721	0.31046	.	.	ENSG00000134376	ENST00000543483	D	0.87179	-2.22	5.8	-5.35	0.02697	.	.	.	.	.	T	0.79545	0.4464	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.70601	-0.4827	6	0.66056	D	0.02	.	1.4352	0.02342	0.3239:0.275:0.0824:0.3186	.	.	.	.	Y	288	ENSP00000439579:S288Y	ENSP00000439579:S288Y	S	+	2	0	CRB1	195657555	0.918000	0.31147	0.000000	0.03702	0.001000	0.01503	0.273000	0.18662	-0.555000	0.06142	-0.859000	0.03014	TCT		0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		24	98	1	0	1.55469e-16	0.00333	2.46838e-16	24	98				
TNNT2	7139	broad.mit.edu	37	1	201334424	201334424	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:201334424C>G	ENST00000509001.1	-	9	562	c.276G>C	c.(274-276)cgG>cgC	p.R92R	TNNT2_ENST00000360372.4_Silent_p.R87R|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367315.2_Silent_p.R92R|TNNT2_ENST00000458432.2_Silent_p.R104R|TNNT2_ENST00000367318.5_Silent_p.R92R|TNNT2_ENST00000421663.2_Silent_p.R94R|TNNT2_ENST00000367317.4_Silent_p.R92R|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000236918.7_Silent_p.R97R|TNNT2_ENST00000367322.1_Silent_p.R92R	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	102					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCATGCGCTTCCGGTGGATGT	0.577																																							uc001gwf.2		NA																	0					0						c.(304-306)CGG>CGC		troponin T type 2, cardiac isoform 1							142.0	134.0	136.0					1																	201334424		2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201334424C>G	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.276G>C	1.37:g.201334424C>G						TNNT2_uc001gwg.2_Silent_p.R92R|TNNT2_uc001gwh.2_Silent_p.R87R|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Silent_p.R33R|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.R67R|TNNT2_uc001gwk.1_Silent_p.R33R|TNNT2_uc009wzt.1_Silent_p.R92R	p.R102R	NM_000364	NP_000355	P45379	TNNT2_HUMAN			10	375	-			102		R -> Q (in CMH2).|R -> W (in CMH2).|R -> L (in CMH2).			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.306G>C	CCDS30969.1																																																																																				0.577	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		18	169	0	0	0	0.00333	0	18	169				
IKBKE	9641	broad.mit.edu	37	1	206652443	206652443	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:206652443A>G	ENST00000367120.3	+	10	1523	c.1150A>G	c.(1150-1152)Aca>Gca	p.T384A	IKBKE_ENST00000537984.1_Missense_Mutation_p.T299A	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	384	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTCTTCAGCACAGCCATCCC	0.597																																							uc001hdz.1		NA																	0				ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(1150-1152)ACA>GCA		IKK-related kinase epsilon							61.0	56.0	58.0					1																	206652443		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206652443A>G	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1150A>G	1.37:g.206652443A>G	ENSP00000356087:p.Thr384Ala					IKBKE_uc009xbv.1_Missense_Mutation_p.T384A|IKBKE_uc001hea.1_Missense_Mutation_p.T299A	p.T384A	NM_014002	NP_054721	Q14164	IKKE_HUMAN			10	1518	+	Breast(84;0.137)		384					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1150A>G	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	4.346	0.063657	0.08388	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.62364	0.03;0.19	5.97	-0.46	0.12175	.	1.591690	0.02538	N	0.094328	T	0.44498	0.1296	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.22871	-1.0204	10	0.07482	T	0.82	20.8168	7.5204	0.27624	0.4956:0.0:0.3973:0.1071	.	299;384	Q3B754;Q14164	.;IKKE_HUMAN	A	384;299	ENSP00000356087:T384A;ENSP00000444529:T299A	ENSP00000356087:T384A	T	+	1	0	IKBKE	204719066	0.029000	0.19370	0.225000	0.23894	0.706000	0.40770	0.366000	0.20365	-0.050000	0.13356	0.533000	0.62120	ACA		0.597	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			15	61	0	0	0	0.00499	0	15	61				
LAMB3	3914	broad.mit.edu	37	1	209811879	209811879	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:209811879C>A	ENST00000356082.4	-	4	432	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	LAMB3_ENST00000391911.1_Splice_Site_p.D100Y|LAMB3_ENST00000367030.3_Splice_Site_p.D100Y	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	100	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAATGCTCACCATTCTGTGAC	0.532																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(298-300)GAT>TAT		laminin, beta 3 precursor							93.0	72.0	79.0					1																	209811879		2203	4300	6503	SO:0001630	splice_region_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209811879C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.298+1G>T	1.37:g.209811879C>A						LAMB3_uc009xco.2_Missense_Mutation_p.D100Y|LAMB3_uc001hhh.2_Missense_Mutation_p.D100Y|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.D100Y	p.D100Y	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	3	688	-			100			Laminin N-terminal.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.298G>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792305	0.90453	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.04	4.04	0.47022	Laminin, N-terminal (3);	0.190070	0.43747	D	0.000535	T	0.80539	0.4642	L	0.39898	1.24	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.989	T	0.79085	-0.1948	9	.	.	.	.	17.1449	0.86764	0.0:1.0:0.0:0.0	.	100;100	B4DL55;Q13751	.;LAMB3_HUMAN	Y	100	ENSP00000375778:D100Y;ENSP00000348384:D100Y;ENSP00000355997:D100Y;ENSP00000388960:D100Y	.	D	-	1	0	LAMB3	207878502	0.998000	0.40836	0.849000	0.33467	0.377000	0.30045	4.068000	0.57534	2.547000	0.85894	0.650000	0.86243	GAT		0.532	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	Missense_Mutation	33	44	1	0	1.90571e-15	0.004289	2.93536e-15	33	44				
KCNK2	3776	broad.mit.edu	37	1	215259899	215259899	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:215259899G>A	ENST00000444842.2	+	2	385	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	KCNK2_ENST00000391894.2_Missense_Mutation_p.V64M|KCNK2_ENST00000391895.2_Missense_Mutation_p.V75M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	79					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CGGAGCCACCGTGTTCAAAGC	0.473																																							uc001hkq.2		NA																	0					0						c.(235-237)GTG>ATG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						114.0	100.0	104.0					1																	215259899		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215259899G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.235G>A	1.37:g.215259899G>A	ENSP00000394033:p.Val79Met					KCNK2_uc001hko.2_Missense_Mutation_p.V75M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.V64M	p.V79M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	404	+			79			Helical; (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.235G>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904495	0.92035	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97642	1.77;-4.47;1.77;1.77;1.77	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	0.997;0.995;1.0	P;P;D	0.83275	0.891;0.781;0.996	D	0.99437	1.0937	10	0.87932	D	0	.	19.5079	0.95127	0.0:0.0:1.0:0.0	.	64;79;75	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	M	75;75;23;64;79;23	ENSP00000375765:V75M;ENSP00000420569:V23M;ENSP00000375764:V64M;ENSP00000394033:V79M;ENSP00000413460:V23M	ENSP00000355915:V75M	V	+	1	0	KCNK2	213326522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.612000	0.88384	0.557000	0.71058	GTG		0.473	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		4	77	0	0	0	0.001168	0	4	77				
KCNK2	3776	broad.mit.edu	37	1	215345448	215345448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:215345448G>T	ENST00000444842.2	+	5	895	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	KCNK2_ENST00000391894.2_Nonsense_Mutation_p.E234*|KCNK2_ENST00000391895.2_Nonsense_Mutation_p.E245*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	249					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAAACACATAGAAGGCTGGAG	0.418																																							uc001hkq.2		NA																	0					0						c.(745-747)GAA>TAA		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						187.0	156.0	166.0					1																	215345448		2203	4300	6503	SO:0001587	stop_gained	3776						outward rectifier potassium channel activity	g.chr1:215345448G>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.745G>T	1.37:g.215345448G>T	ENSP00000394033:p.Glu249*					KCNK2_uc001hko.2_Nonsense_Mutation_p.E245*|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.E234*	p.E249*	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	5	914	+			249					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Nonsense_Mutation	SNP	ENST00000444842.2	37	c.745G>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	38	7.197443	0.98129	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8509	0.96740	0.0:0.0:1.0:0.0	.	.	.	.	X	245;234;249	.	ENSP00000375764:E234X	E	+	1	0	KCNK2	213412071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.687000	0.91594	0.558000	0.71614	GAA		0.418	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		24	81	1	0	1.33986e-20	0.004656	2.2447e-20	24	81				
NUP133	55746	broad.mit.edu	37	1	229635556	229635556	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:229635556C>A	ENST00000261396.3	-	5	614	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	NUP133_ENST00000537506.1_Missense_Mutation_p.V159F|NUP133_ENST00000366678.3_Missense_Mutation_p.V175F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	175					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCAACCATGACAGCAACAGCC	0.448																																							uc001htn.2		NA																	0				breast(4)|skin(2)|ovary(1)	7						c.(523-525)GTC>TTC		nucleoporin 133kDa							69.0	66.0	67.0					1																	229635556		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229635556C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.523G>T	1.37:g.229635556C>A	ENSP00000261396:p.Val175Phe						p.V175F	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			5	615	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	175					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.523G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422735	0.83559	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.184196	0.48286	D	0.000193	T	0.49915	0.1585	M	0.69823	2.125	0.47949	D	0.99955	D	0.56287	0.975	P	0.60012	0.867	T	0.50346	-0.8839	10	0.72032	D	0.01	-6.7491	11.9713	0.53065	0.0:0.9143:0.0:0.0857	.	175	Q8WUM0	NU133_HUMAN	F	175;175;175;159;175	ENSP00000261396:V175F;ENSP00000355640:V175F;ENSP00000443496:V159F;ENSP00000355639:V175F	ENSP00000261396:V175F	V	-	1	0	NUP133	227702179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.991000	0.40727	2.761000	0.94854	0.655000	0.94253	GTC		0.448	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		8	33	1	0	2.17888e-05	0.006214	2.47099e-05	8	33				
AGT	183	broad.mit.edu	37	1	230846207	230846207	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:230846207C>A	ENST00000366667.4	-	2	604	c.390G>T	c.(388-390)ggG>ggT	p.G130G	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	130					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACGGTGGCCCCATGGACCA	0.597																																							uc001hty.3		NA																	0					0						c.(388-390)GGG>GGT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						98.0	99.0	99.0					1																	230846207		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846207C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.390G>T	1.37:g.230846207C>A						AGT_uc009xfe.2_Silent_p.G130G|AGT_uc009xff.2_Silent_p.G102G	p.G130G	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	898	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	130					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.390G>T	CCDS1585.1																																																																																				0.597	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		31	103	1	0	2.42023e-17	0.003271	3.89047e-17	31	103				
KIAA1804	84451	broad.mit.edu	37	1	233464558	233464558	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:233464558C>T	ENST00000366624.3	+	1	1045	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	MLK4_ENST00000366623.3_Missense_Mutation_p.R262W	NM_032435.2	NP_115811.2																					CATCCTGCACCGGGACCTCAA	0.652																																							uc001hvt.3		NA																	0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(784-786)CGG>TGG		mixed lineage kinase 4							14.0	8.0	10.0					1																	233464558		1935	3835	5770	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233464558C>T																												ENST00000366624.3:c.784C>T	1.37:g.233464558C>T	ENSP00000355583:p.Arg262Trp					KIAA1804_uc001hvs.1_Missense_Mutation_p.R262W	p.R262W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			1	1045	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	262			Protein kinase.			Missense_Mutation	SNP	ENST00000366624.3	37	c.784C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182153	0.78677	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.88818	-2.43;-2.43	4.13	4.13	0.48395	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.182603	0.35067	N	0.003463	D	0.96297	0.8792	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96983	0.9716	10	0.72032	D	0.01	.	12.2441	0.54560	0.1707:0.8293:0.0:0.0	.	262;262	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	W	262	ENSP00000355582:R262W;ENSP00000355583:R262W	ENSP00000355582:R262W	R	+	1	2	RP5-862P8.2	231531181	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.562000	0.53777	2.113000	0.64589	0.448000	0.29417	CGG		0.652	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	16	0	0	0	0.004672	0	3	16				
ACTN2	88	broad.mit.edu	37	1	236891015	236891015	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:236891015C>A	ENST00000366578.4	+	6	740	c.574C>A	c.(574-576)Cga>Aga	p.R192R	ACTN2_ENST00000542672.1_Silent_p.R192R|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	192	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R192*(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTCATCCACCGACACCGGCC	0.547																																							uc001hyf.2		NA																	1	Substitution - Nonsense(1)		kidney(1)	ovary(4)|skin(1)	5						c.(574-576)CGA>AGA		actinin, alpha 2							174.0	142.0	153.0					1																	236891015		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236891015C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.574C>A	1.37:g.236891015C>A						ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.R192R	p.R192R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		6	778	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	192			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.574C>A	CCDS1613.1																																																																																				0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		17	91	1	0	5.3912e-06	0.006122	6.25137e-06	17	91				
ACTN2	88	broad.mit.edu	37	1	236911069	236911069	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:236911069C>A	ENST00000366578.4	+	13	1675	c.1509C>A	c.(1507-1509)gcC>gcA	p.A503A	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.A503A	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	503					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGAGAAGCCCTAGAGGTGA	0.428																																							uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1507-1509)GCC>GCA		actinin, alpha 2							42.0	44.0	44.0					1																	236911069		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236911069C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1509C>A	1.37:g.236911069C>A						ACTN2_uc001hyg.2_Silent_p.A295A|ACTN2_uc009xgi.1_Silent_p.A503A|ACTN2_uc010pxu.1_Silent_p.A192A|ACTN2_uc001hyh.2_Silent_p.A191A	p.A503A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		13	1713	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	503			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1509C>A	CCDS1613.1																																																																																				0.428	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		3	21	1	0	0.004672	0.004672	0.00484087	3	21				
MAP1LC3C	440738	broad.mit.edu	37	1	242159555	242159555	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:242159555G>T	ENST00000357246.3	-	4	418	c.354C>A	c.(352-354)acC>acA	p.T118T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	118					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGGAGGCGTAGGTCATGTACA	0.557																																							uc001hzk.2		NA																	0				ovary(1)	1						c.(352-354)ACC>ACA		microtubule-associated protein 1 light chain 3							186.0	162.0	170.0					1																	242159555		2203	4300	6503	SO:0001819	synonymous_variant	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159555G>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.354C>A	1.37:g.242159555G>T							p.T118T	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	429	-			118					A0PJY8|A2RUP0	Silent	SNP	ENST00000357246.3	37	c.354C>A	CCDS31074.1																																																																																				0.557	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		17	90	1	0	1.74485e-21	0.007413	2.96165e-21	17	90				
OR2G3	81469	broad.mit.edu	37	1	247769025	247769025	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:247769025C>G	ENST00000320002.2	+	1	170	c.138C>G	c.(136-138)atC>atG	p.I46M	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCACCATAATCATCATCTCAT	0.463																																							uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(136-138)ATC>ATG		olfactory receptor, family 2, subfamily G,							255.0	254.0	254.0					1																	247769025		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769025C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.138C>G	1.37:g.247769025C>G	ENSP00000326301:p.Ile46Met						p.I46M	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	138	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		46			Helical; Name=1; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.138C>G	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	7.992	0.753604	0.15778	.	.	ENSG00000177476	ENST00000320002	T	0.00623	6.15	3.64	-5.0	0.03001	GPCR, rhodopsin-like superfamily (1);	0.383853	0.18356	N	0.143702	T	0.00815	0.0027	M	0.72118	2.19	0.09310	N	1	B	0.32051	0.354	B	0.32980	0.156	T	0.32613	-0.9900	10	0.54805	T	0.06	.	6.3314	0.21272	0.0:0.3927:0.1701:0.4373	.	46	Q8NGZ4	OR2G3_HUMAN	M	46	ENSP00000326301:I46M	ENSP00000326301:I46M	I	+	3	3	OR2G3	245835648	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.197000	0.03038	-1.054000	0.03214	-0.858000	0.03015	ATC		0.463	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			93	112	0	0	0	0.01441	0	93	112				
TRIM58	25893	broad.mit.edu	37	1	248039386	248039386	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248039386G>T	ENST00000366481.3	+	6	1104	c.1056G>T	c.(1054-1056)gtG>gtT	p.V352V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGTTCTGGTGGGAGAAGGAG	0.577																																							uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1054-1056)GTG>GTT		tripartite motif-containing 58							111.0	101.0	104.0					1																	248039386		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248039386G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1056G>T	1.37:g.248039386G>T						OR2W3_uc001idp.1_Intron	p.V352V	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1104	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	352			B30.2/SPRY.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.1056G>T	CCDS1636.1																																																																																				0.577	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		25	38	1	0	1.75199e-13	0.007291	2.62798e-13	25	38				
OR2T8	343172	broad.mit.edu	37	1	248085099	248085099	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248085099C>A	ENST00000319968.4	+	1	780	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATATGAGACCCAAATCCCACA	0.488																																							uc010pzc.1		NA																	0					0						c.(778-780)CCC>CCA		olfactory receptor, family 2, subfamily T,							58.0	54.0	55.0					1																	248085099		2202	4291	6493	SO:0001819	synonymous_variant	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085099C>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.780C>A	1.37:g.248085099C>A							p.P260P	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	780	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	260			Extracellular (Potential).			Silent	SNP	ENST00000319968.4	37	c.780C>A	CCDS31100.1																																																																																				0.488	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		16	17	1	0	2.89027e-11	0.014323	3.97701e-11	16	17				
OR2L2	26246	broad.mit.edu	37	1	248202392	248202392	+	Missense_Mutation	SNP	G	G	A	rs183779702		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248202392G>A	ENST00000366479.2	+	1	919	c.823G>A	c.(823-825)Gtt>Att	p.V275I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GATTCTGGCTGTTTTCTACAC	0.488													g|||	1	0.000199681	0.0	0.0	5008	,	,		19088	0.001		0.0	False		,,,				2504	0.0						uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(823-825)GTT>ATT		olfactory receptor, family 2, subfamily L,							116.0	107.0	110.0					1																	248202392		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202392G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.823G>A	1.37:g.248202392G>A	ENSP00000355435:p.Val275Ile					OR2L13_uc001ids.2_Intron	p.V275I	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	919	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275			Helical; Name=7; (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.823G>A	CCDS31103.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	1.885	-0.456851	0.04540	.	.	ENSG00000203663	ENST00000366479	T	0.00249	8.44	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29002	U	0.013458	T	0.00178	0.0005	L	0.39020	1.185	0.09310	N	1	B	0.23540	0.087	B	0.30782	0.12	T	0.22347	-1.0219	10	0.46703	T	0.11	.	8.1389	0.31071	0.0:0.2511:0.7489:0.0	.	275	Q8NH16	OR2L2_HUMAN	I	275	ENSP00000355435:V275I	ENSP00000355435:V275I	V	+	1	0	OR2L2	246269015	0.001000	0.12720	0.896000	0.35187	0.174000	0.22865	0.295000	0.19065	0.897000	0.36392	0.194000	0.17425	GTT		0.488	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		20	77	0	0	0	0.008871	0	20	77				
OR2L2	26246	broad.mit.edu	37	1	248202407	248202407	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248202407C>A	ENST00000366479.2	+	1	934	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTACACCATCCTCACCCCAAT	0.468																																							uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(838-840)CTC>ATC		olfactory receptor, family 2, subfamily L,							103.0	97.0	99.0					1																	248202407		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202407C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.838C>A	1.37:g.248202407C>A	ENSP00000355435:p.Leu280Ile					OR2L13_uc001ids.2_Intron	p.L280I	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	934	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		280			Helical; Name=7; (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.838C>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	4.270	0.049213	0.08243	.	.	ENSG00000203663	ENST00000366479	T	0.00145	8.67	1.9	0.79	0.18613	GPCR, rhodopsin-like superfamily (1);	0.355462	0.15917	N	0.238289	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.24368	0.102	B	0.34385	0.181	T	0.09292	-1.0681	10	0.45353	T	0.12	.	5.9465	0.19221	0.1718:0.3534:0.4748:0.0	.	280	Q8NH16	OR2L2_HUMAN	I	280	ENSP00000355435:L280I	ENSP00000355435:L280I	L	+	1	0	OR2L2	246269030	0.000000	0.05858	0.879000	0.34478	0.390000	0.30446	-0.224000	0.09164	0.897000	0.36392	0.194000	0.17425	CTC		0.468	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		22	81	1	0	1.22574e-08	0.014323	1.5502e-08	22	81				
OR2L13	284521	broad.mit.edu	37	1	248262809	248262809	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248262809G>C	ENST00000358120.2	+	2	277	c.132G>C	c.(130-132)atG>atC	p.M44I	OR2L13_ENST00000366478.2_Missense_Mutation_p.M44I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTCGGCCATGATTCACCTCA	0.493																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(130-132)ATG>ATC		olfactory receptor, family 2, subfamily L,							221.0	208.0	213.0					1																	248262809		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262809G>C	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.132G>C	1.37:g.248262809G>C	ENSP00000350836:p.Met44Ile						p.M44I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	469	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44			Helical; Name=1; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.132G>C	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173133	0.21704	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00330	8.08;8.08	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00109	0.0003	N	0.01535	-0.81	0.21915	N	0.999476	B	0.10296	0.003	B	0.08055	0.003	T	0.42103	-0.9471	10	0.51188	T	0.08	.	6.1956	0.20548	0.1046:0.2583:0.637:0.0	.	44	Q8N349	OR2LD_HUMAN	I	44	ENSP00000355434:M44I;ENSP00000350836:M44I	ENSP00000350836:M44I	M	+	3	0	OR2L13	246329432	0.000000	0.05858	0.387000	0.26183	0.628000	0.37860	-1.595000	0.02093	2.077000	0.62373	0.650000	0.86243	ATG		0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		86	89	0	0	0	0.01441	0	86	89				
OR2M4	26245	broad.mit.edu	37	1	248402257	248402257	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248402257C>A	ENST00000306687.1	+	1	27	c.27C>A	c.(25-27)aaC>aaA	p.N9K		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	9					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGACCTTCAACTCCATCTTCA	0.418																																							uc010pzh.1		NA																	0				breast(2)	2						c.(25-27)AAC>AAA		olfactory receptor, family 2, subfamily M,							112.0	109.0	110.0					1																	248402257		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402257C>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.27C>A	1.37:g.248402257C>A	ENSP00000306688:p.Asn9Lys						p.N9K	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	27	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		9			Extracellular (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.27C>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	0.056	-1.236063	0.01505	.	.	ENSG00000171180	ENST00000306687	T	0.00285	8.3	2.52	0.576	0.17380	.	0.329345	0.21644	N	0.071283	T	0.00144	0.0004	L	0.39020	1.185	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.30995	-0.9959	10	0.23302	T	0.38	.	3.3182	0.07040	0.0:0.4047:0.2079:0.3874	.	9	Q96R27	OR2M4_HUMAN	K	9	ENSP00000306688:N9K	ENSP00000306688:N9K	N	+	3	2	OR2M4	246468880	0.000000	0.05858	0.000000	0.03702	0.640000	0.38277	0.040000	0.13905	0.150000	0.19136	0.543000	0.68304	AAC		0.418	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		29	66	1	0	4.31634e-10	0.012213	5.78144e-10	29	66				
OR2T33	391195	broad.mit.edu	37	1	248436337	248436337	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248436337G>T	ENST00000318021.2	-	1	801	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P260P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATGGGATTTGGGTCTCATAT	0.478																																							uc010pzi.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(778-780)CCC>CCA		olfactory receptor, family 2, subfamily T,							115.0	129.0	124.0					1																	248436337		2203	4300	6503	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436337G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.780C>A	1.37:g.248436337G>T							p.P260P	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	780	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260			Extracellular (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.780C>A	CCDS31109.1																																																																																				0.478	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		6	106	1	0	1.64293e-13	0.00333	2.47159e-13	6	106				
TUBB8	347688	broad.mit.edu	37	10	93866	93866	+	Silent	SNP	G	G	T	rs141258404		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:93866G>T	ENST00000309812.4	-	4	528	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	TUBB8_ENST00000447903.2_Silent_p.R84R|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	156					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACTCCTCCCGGATCTTACTG	0.607																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	0				ovary(1)	1						c.(466-468)CGG>AGG		tubulin, beta 8 isoform 1							101.0	90.0	94.0					10																	93866		2203	4300	6503	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93866G>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.466C>A	10.37:g.93866G>T						TUBB8_uc009xhe.2_Silent_p.R119R|TUBB8_uc010pzs.1_Silent_p.R84R	p.R156R	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	466	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	156					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.466C>A	CCDS7051.1																																																																																				0.607	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		30	60	1	0	1.36615e-20	0.013726	2.28133e-20	30	60				
PFKP	5214	broad.mit.edu	37	10	3141545	3141545	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:3141545G>T	ENST00000381125.4	+	3	340		c.e3+1		PFKP_ENST00000421751.1_Splice_Site|PFKP_ENST00000381075.2_Splice_Site	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGCAAGTGGTAGGTACTGG	0.522																																							uc001igp.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.e3+1		phosphofructokinase, platelet							128.0	131.0	130.0					10																	3141545		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3141545G>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.264+1G>T	10.37:g.3141545G>T						PFKP_uc001igq.2_Splice_Site_p.G54_splice|PFKP_uc009xhr.2_Splice_Site_p.V50_splice	p.V88_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	3	300	+								B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37	c.264_splice	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866990	0.72065	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5813	0.95468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKP	3131545	1.000000	0.71417	0.996000	0.52242	0.562000	0.35680	9.565000	0.98154	2.615000	0.88500	0.632000	0.83419	.		0.522	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Intron	29	95	1	0	2.46105e-21	0.010818	4.16362e-21	29	95				
USP6NL	9712	broad.mit.edu	37	10	11504481	11504481	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:11504481T>G	ENST00000609104.1	-	15	2840	c.2446A>C	c.(2446-2448)Aat>Cat	p.N816H	USP6NL_ENST00000277575.5_Missense_Mutation_p.N833H|USP6NL_ENST00000379237.2_Missense_Mutation_p.N839H	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	816					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCGTCCCGATTCCTGTAGTGG	0.507																																							uc001ikt.3		NA																	0					0						c.(2446-2448)AAT>CAT		USP6 N-terminal like isoform 1							58.0	63.0	62.0					10																	11504481		2007	4160	6167	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504481T>G	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2446A>C	10.37:g.11504481T>G	ENSP00000476462:p.Asn816His					USP6NL_uc001iks.1_Missense_Mutation_p.N833H	p.N816H	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2767	-			816					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2446A>C	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.412318	0.25465	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.05199	3.48;3.49	5.97	5.97	0.96955	.	0.405046	0.25869	N	0.027766	T	0.09905	0.0243	L	0.58101	1.795	0.35815	D	0.82416	B;B	0.15930	0.004;0.015	B;B	0.18561	0.007;0.022	T	0.03619	-1.1019	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.1352:0.8648	.	816;833	Q92738;Q92738-2	US6NL_HUMAN;.	H	816;833;816	ENSP00000277575:N833H;ENSP00000368539:N816H	ENSP00000277575:N833H	N	-	1	0	USP6NL	11544487	1.000000	0.71417	0.782000	0.31804	0.213000	0.24496	3.243000	0.51392	2.288000	0.76882	0.533000	0.62120	AAT		0.507	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		18	31	0	0	0	0.010504	0	18	31				
DHTKD1	55526	broad.mit.edu	37	10	12143171	12143171	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:12143171G>T	ENST00000263035.4	+	10	1949	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	629					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATCAGAAGGGGTTTCTAGAGG	0.473																																							uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1885-1887)GGG>GGT		dehydrogenase E1 and transketolase domain							122.0	102.0	109.0					10																	12143171		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12143171G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1887G>T	10.37:g.12143171G>T							p.G629G	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		10	1986	+		Renal(717;0.228)	629					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.1887G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	0.307	-0.969963	0.02232	.	.	ENSG00000181192	ENST00000448829	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40365	-0.9567	4	.	.	.	-11.2004	2.7542	0.05288	0.2195:0.3747:0.2181:0.1877	.	.	.	.	F	181	.	.	V	+	1	0	DHTKD1	12183177	0.000000	0.05858	0.140000	0.22221	0.165000	0.22458	-1.973000	0.01500	-2.437000	0.00552	-1.119000	0.02030	GTT		0.473	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		8	11	1	0	0.00307968	0.00308	0.00322991	8	11				
MSRB2	22921	broad.mit.edu	37	10	23408279	23408279	+	Nonsense_Mutation	SNP	G	G	T	rs373939180		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:23408279G>T	ENST00000376510.3	+	4	446	c.343G>T	c.(343-345)Gag>Tag	p.E115*	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	115					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	TTCGTTTTCCGAGGCTCATGG	0.498																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	Esophageal Squamous(89;1240 1363 4973 30188 42299)	uc001iro.2		NA																	0					0						c.(343-345)GAG>TAG		methionine sulfoxide reductase B2 precursor	L-Methionine(DB00134)						106.0	107.0	107.0					10																	23408279		2003	4167	6170	SO:0001587	stop_gained	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23408279G>T	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.343G>T	10.37:g.23408279G>T	ENSP00000365693:p.Glu115*						p.E115*	NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN			4	454	+			115					Q17R44|Q4G1C7|Q9Y5W6	Nonsense_Mutation	SNP	ENST00000376510.3	37	c.343G>T	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	38	7.009248	0.97998	.	.	ENSG00000148450	ENST00000376510	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-13.4492	18.77	0.91888	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000365693:E115X	E	+	1	0	MSRB2	23448285	1.000000	0.71417	0.987000	0.45799	0.919000	0.55068	6.184000	0.72008	2.813000	0.96785	0.655000	0.94253	GAG		0.498	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		17	46	1	0	1.67942e-08	0.006122	2.11877e-08	17	46				
ANKRD26	22852	broad.mit.edu	37	10	27303608	27303608	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:27303608C>G	ENST00000376087.4	-	31	4704	c.4539G>C	c.(4537-4539)caG>caC	p.Q1513H	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q1529H|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Q1070H	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1512			F -> L (in dbSNP:rs2274741). {ECO:0000269|PubMed:14702039}.		glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTCTCTAAACTGCTCTAAGT	0.333																																							uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4534-4536)CAG>CAC		ankyrin repeat domain 26							56.0	50.0	52.0					10																	27303608		1813	4079	5892	SO:0001583	missense	22852					centrosome		g.chr10:27303608C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4539G>C	10.37:g.27303608C>G	ENSP00000365255:p.Gln1513His					ANKRD26_uc001itg.2_Missense_Mutation_p.Q1199H|ANKRD26_uc009xku.1_Missense_Mutation_p.Q1513H	p.Q1512H	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			31	4708	-			1512					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4536G>C	CCDS41499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.522902|2.522902	0.44866|0.44866	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.38240|.	3.67;1.15;1.17|.	5.27|5.27	0.471|0.471	0.16752|0.16752	.|.	0.120637|.	0.35525|.	N|.	0.003154|.	T|T	0.63153|0.63153	0.2487|0.2487	M|M	0.84326|0.84326	2.69|2.69	0.36643|0.36643	D|D	0.876935|0.876935	P;P;D|.	0.67145|.	0.662;0.532;0.996|.	B;B;D|.	0.76071|.	0.278;0.144;0.987|.	T|T	0.63769|0.63769	-0.6562|-0.6562	10|5	0.87932|.	D|.	0|.	.|.	2.394|2.394	0.04385|0.04385	0.3926:0.3024:0.0:0.305|0.3926:0.3024:0.0:0.305	.|.	1513;1512;1529|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	H|L	1070;1513;1529|1	ENSP00000365238:Q1070H;ENSP00000365255:Q1513H;ENSP00000405112:Q1529H|.	ENSP00000365238:Q1070H|.	Q|V	-|-	3|1	2|0	ANKRD26|ANKRD26	27343614|27343614	0.945000|0.945000	0.32115|0.32115	0.046000|0.046000	0.18839|0.18839	0.721000|0.721000	0.41392|0.41392	-0.098000|-0.098000	0.11024|0.11024	0.188000|0.188000	0.20168|0.20168	0.313000|0.313000	0.20887|0.20887	CAG|GTT		0.333	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			4	13	0	0	0	0.001984	0	4	13				
KIAA1462	57608	broad.mit.edu	37	10	30316484	30316484	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:30316484C>G	ENST00000375377.1	-	3	2694	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	865					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCTGCGGCTCCGCCTCACTC	0.572																																							uc001iux.2		NA																	0				ovary(4)	4						c.(2593-2595)GAG>CAG		hypothetical protein LOC57608							50.0	56.0	54.0					10																	30316484		2143	4259	6402	SO:0001583	missense	57608							g.chr10:30316484C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2593G>C	10.37:g.30316484C>G	ENSP00000364526:p.Glu865Gln					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E727Q|KIAA1462_uc009xle.1_Missense_Mutation_p.E865Q	p.E865Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2652	-			865					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2593G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816034	0.32145	.	.	ENSG00000165757	ENST00000375377	T	0.13307	2.6	5.51	3.63	0.41609	.	0.772485	0.12177	N	0.492434	T	0.23014	0.0556	M	0.61703	1.905	0.09310	N	1	D	0.58268	0.982	P	0.54924	0.764	T	0.09640	-1.0665	10	0.35671	T	0.21	-7.9802	5.8722	0.18809	0.0:0.6434:0.1507:0.2059	.	865	Q9P266	K1462_HUMAN	Q	865	ENSP00000364526:E865Q	ENSP00000364526:E865Q	E	-	1	0	KIAA1462	30356490	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.613000	0.24299	1.309000	0.44985	0.655000	0.94253	GAG		0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		5	62	0	0	0	0.001168	0	5	62				
ZNF33B	7582	broad.mit.edu	37	10	43089490	43089490	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:43089490C>A	ENST00000359467.3	-	5	1022	c.908G>T	c.(907-909)tGt>tTt	p.C303F	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACTTTCACCACAATCATAGTG	0.383																																					Melanoma(137;1247 1767 16772 25727 43810)	Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(907-909)TGT>TTT		zinc finger protein 33B							111.0	109.0	110.0					10																	43089490		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089490C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.908G>T	10.37:g.43089490C>A	ENSP00000352444:p.Cys303Phe					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.C191F|ZNF33B_uc001jad.2_Intron	p.C303F	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1023	-			303					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.908G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	7.561	0.664694	0.14710	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.36157	1.27	2.28	-4.56	0.03431	.	1.738810	0.03544	N	0.224348	T	0.45034	0.1322	M	0.91920	3.255	0.09310	N	1	B	0.19706	0.038	B	0.18263	0.021	T	0.46871	-0.9160	10	0.87932	D	0	.	5.6566	0.17647	0.0:0.36:0.1415:0.4985	.	303	Q06732	ZN33B_HUMAN	F	303;269	ENSP00000352444:C303F	ENSP00000352444:C303F	C	-	2	0	ZNF33B	42409496	0.030000	0.19436	0.000000	0.03702	0.054000	0.15201	0.532000	0.23067	-1.533000	0.01745	-0.482000	0.04802	TGT		0.383	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		23	60	1	0	9.95505e-16	0.014323	1.54258e-15	23	60				
PCDH15	65217	broad.mit.edu	37	10	55568867	55568867	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:55568867G>T	ENST00000395445.1	-	36	5337	c.4943C>A	c.(4942-4944)aCa>aAa	p.T1648K	PCDH15_ENST00000395442.1_Missense_Mutation_p.T513K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.T582K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T844K	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGACTCTGTGGATTCCGA	0.488										HNSCC(58;0.16)																													uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4957-4959)ACA>AAA		protocadherin 15 isoform CD2-1 precursor							139.0	109.0	118.0					10																	55568867		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568867G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4943C>A	10.37:g.55568867G>T	ENSP00000378832:p.Thr1648Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1646K|PCDH15_uc010qhu.1_3'UTR	p.T1653K	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5353	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4958C>A		.	.	.	.	.	.	.	.	.	.	G	14.08	2.427592	0.43122	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97138	2.31;-4.26;-4.26;-4.26	5.55	4.65	0.58169	.	.	.	.	.	D	0.91737	0.7387	N	0.14661	0.345	0.80722	D	1	P;P	0.38922	0.651;0.651	B;B	0.32677	0.15;0.15	D	0.92497	0.6005	9	0.87932	D	0	.	12.7609	0.57363	0.0801:0.0:0.9199:0.0	.	1646;1648	C6ZEF5;A2A3E2	.;.	K	1648;844;513;582	ENSP00000378832:T1648K;ENSP00000378833:T844K;ENSP00000378829:T513K;ENSP00000378827:T582K	ENSP00000378827:T582K	T	-	2	0	PCDH15	55238873	0.995000	0.38212	1.000000	0.80357	0.294000	0.27393	1.880000	0.39628	2.611000	0.88343	0.655000	0.94253	ACA		0.488	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		13	27	1	0	1.61879e-10	0.013537	2.19238e-10	13	27				
FAM13C	220965	broad.mit.edu	37	10	61112086	61112086	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:61112086T>C	ENST00000373868.2	-	3	355	c.268A>G	c.(268-270)Agg>Ggg	p.R90G	FAM13C_ENST00000373867.3_Missense_Mutation_p.R7G|FAM13C_ENST00000419214.2_Missense_Mutation_p.R90G|FAM13C_ENST00000435852.2_Missense_Mutation_p.R90G|FAM13C_ENST00000422313.2_Missense_Mutation_p.R90G|FAM13C_ENST00000277705.6_Missense_Mutation_p.R90G|FAM13C_ENST00000468840.2_Missense_Mutation_p.R7G|FAM13C_ENST00000442566.3_Missense_Mutation_p.R90G	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	90										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGGCTTCCTGGACTTGAAG	0.592																																							uc001jkn.2		NA																	0				ovary(2)	2						c.(268-270)AGG>GGG		hypothetical protein LOC220965 isoform 1							85.0	83.0	84.0					10																	61112086		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61112086T>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.268A>G	10.37:g.61112086T>C	ENSP00000362975:p.Arg90Gly					FAM13C_uc001jko.2_Missense_Mutation_p.R90G|FAM13C_uc010qid.1_Missense_Mutation_p.R7G|FAM13C_uc010qie.1_Missense_Mutation_p.R7G|FAM13C_uc010qif.1_Missense_Mutation_p.R112G|FAM13C_uc001jkp.2_Missense_Mutation_p.R7G	p.R90G	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			4	402	-			90					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.268A>G	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399766	0.83120	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000512919	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.8	-1.68	0.08212	.	0.278041	0.28209	N	0.016192	T	0.72985	0.3529	L	0.56769	1.78	0.28151	N	0.929372	P;B;P;D;P	0.76494	0.649;0.167;0.649;0.999;0.51	B;B;B;D;B	0.80764	0.23;0.169;0.23;0.994;0.154	T	0.72636	-0.4233	10	0.54805	T	0.06	.	16.9941	0.86362	0.0:0.0:0.1943:0.8057	.	90;7;90;90;90	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	G	7;90;90;90;90;7;90;90;7	ENSP00000362975:R90G;ENSP00000395661:R90G;ENSP00000277705:R90G;ENSP00000391993:R90G;ENSP00000392302:R90G;ENSP00000400241:R90G	ENSP00000277705:R90G	R	-	1	2	FAM13C	60782092	0.864000	0.29904	0.992000	0.48379	0.970000	0.65996	-0.051000	0.11885	-0.146000	0.11274	-0.258000	0.10820	AGG		0.592	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			20	63	0	0	0	0.00278	0	20	63				
STOX1	219736	broad.mit.edu	37	10	70646248	70646248	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:70646248A>T	ENST00000298596.6	+	3	2779	c.2696A>T	c.(2695-2697)cAa>cTa	p.Q899L	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.Q789L|STOX1_ENST00000399169.4_Missense_Mutation_p.Q899L|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	899						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTTCCCACAAAAGTTCCAA	0.438																																							uc001jos.2		NA																	0				kidney(1)|skin(1)	2						c.(2695-2697)CAA>CTA		storkhead box 1 isoform a							65.0	67.0	66.0					10																	70646248		2071	4248	6319	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70646248A>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2696A>T	10.37:g.70646248A>T	ENSP00000298596:p.Gln899Leu					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.Q789L	p.Q899L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	2783	+			899					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2696A>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279928	0.23392	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.75589	-0.95;-0.95;-0.63	5.97	4.81	0.61882	.	0.464013	0.24375	N	0.039075	T	0.70815	0.3267	L	0.54323	1.7	0.09310	N	1	P	0.34462	0.454	B	0.35240	0.198	T	0.64504	-0.6392	10	0.59425	D	0.04	.	13.2786	0.60202	0.8677:0.1323:0.0:0.0	.	899	Q6ZVD7	STOX1_HUMAN	L	899;899;789	ENSP00000382121:Q899L;ENSP00000298596:Q899L;ENSP00000394509:Q789L	ENSP00000298596:Q899L	Q	+	2	0	STOX1	70316254	0.707000	0.27866	0.011000	0.14972	0.025000	0.11179	2.433000	0.44793	1.041000	0.40125	0.533000	0.62120	CAA		0.438	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		14	39	0	0	0	0.003163	0	14	39				
ADAMTS14	140766	broad.mit.edu	37	10	72468463	72468463	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:72468463G>T	ENST00000373207.1	+	4	799	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V267L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	267	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCTGCTGGTGGTGGACGACTC	0.607																																							uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(799-801)GTG>TTG		ADAM metallopeptidase with thrombospondin type 1							146.0	115.0	126.0					10																	72468463		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72468463G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.799G>T	10.37:g.72468463G>T	ENSP00000362303:p.Val267Leu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.V267L	p.V267L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			4	799	+			267			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.799G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807750	0.90623	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.87887	-2.31;-2.31	4.57	4.57	0.56435	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	D	0.92541	0.7631	M	0.70903	2.155	0.54753	D	0.999987	D;D	0.71674	0.998;0.972	D;D	0.70935	0.971;0.922	D	0.93059	0.6472	10	0.56958	D	0.05	.	17.1288	0.86721	0.0:0.0:1.0:0.0	.	267;267	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	267	ENSP00000362304:V267L;ENSP00000362303:V267L	ENSP00000362303:V267L	V	+	1	0	ADAMTS14	72138469	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	9.618000	0.98365	2.368000	0.80403	0.561000	0.74099	GTG		0.607	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		23	85	1	0	3.28513e-13	0.003954	4.87105e-13	23	85				
USP54	159195	broad.mit.edu	37	10	75296160	75296160	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:75296160G>A	ENST00000339859.4	-	10	1111	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	USP54_ENST00000319786.7_Silent_p.C337C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Silent_p.C337C|USP54_ENST00000428547.1_Silent_p.C187C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	337	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCCCCTTGATGCATTTGGTCA	0.483																																					Colon(195;880 2046 8854 25025 38456)	Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(1009-1011)TGC>TGT		ubiquitin specific peptidase 54							116.0	119.0	118.0					10																	75296160		1939	4143	6082	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75296160G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1011C>T	10.37:g.75296160G>A						USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Silent_p.C337C|USP54_uc010qkl.1_Silent_p.C337C|USP54_uc001juq.1_Silent_p.C130C	p.C337C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			9	1028	-	Prostate(51;0.0112)		337					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.1011C>T	CCDS7329.2																																																																																				0.483	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		22	85	0	0	0	0.005443	0	22	85				
C10orf2	56652	broad.mit.edu	37	10	102753033	102753033	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:102753033G>C	ENST00000311916.2	+	5	2006	c.1821G>C	c.(1819-1821)aaG>aaC	p.K607N	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	607	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCCAAGAACCGCTTTG	0.542																																							uc001ksf.2		NA																	0				ovary(1)	1						c.(1819-1821)AAG>AAC		twinkle isoform A							178.0	184.0	182.0					10																	102753033		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102753033G>C	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1821G>C	10.37:g.102753033G>C	ENSP00000309595:p.Lys607Asn					C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc010qpv.1_Missense_Mutation_p.K153N|C10orf2_uc001ksh.2_RNA	p.K607N	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	2496	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	607			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1821G>C	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874011	0.72180	.	.	ENSG00000107815	ENST00000311916	T	0.76316	-1.01	5.54	2.67	0.31697	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86549	0.1833	10	0.87932	D	0	-15.1523	10.2242	0.43216	0.2176:0.0:0.7824:0.0	.	607	Q96RR1	PEO1_HUMAN	N	607	ENSP00000309595:K607N	ENSP00000309595:K607N	K	+	3	2	C10orf2	102743023	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.102000	0.50291	0.300000	0.22699	-0.391000	0.06502	AAG		0.542	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		10	131	0	0	0	0.008291	0	10	131				
PPRC1	23082	broad.mit.edu	37	10	103907013	103907013	+	Missense_Mutation	SNP	C	C	T	rs368680880		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:103907013C>T	ENST00000278070.2	+	9	4303	c.4264C>T	c.(4264-4266)Cgc>Tgc	p.R1422C	PPRC1_ENST00000370012.1_Missense_Mutation_p.R389C|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1422	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTGGCAGGGCCGCCGAGGCCG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17272	0.0		0.0	False		,,,				2504	0.001						uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4264-4266)CGC>TGC		peroxisome proliferator-activated receptor		C	CYS/ARG	0,4406		0,0,2203	61.0	59.0	60.0		4264	4.8	1.0	10		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	PPRC1	NM_015062.3	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	1422/1665	103907013	1,13003	2203	4299	6502	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907013C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4264C>T	10.37:g.103907013C>T	ENSP00000278070:p.Arg1422Cys					PPRC1_uc001kun.2_Missense_Mutation_p.R1302C|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.R1422C	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4303	+		Colorectal(252;0.122)	1422			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4264C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584938	0.28268	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.34275	1.73;1.37	5.76	4.84	0.62591	.	0.343152	0.34338	N	0.004041	T	0.30070	0.0753	L	0.56769	1.78	0.80722	D	1	B;B	0.26876	0.162;0.101	B;B	0.21917	0.037;0.017	T	0.19224	-1.0312	10	0.42905	T	0.14	.	4.6855	0.12755	0.1429:0.6146:0.157:0.0855	.	1302;1422	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	C	1422;389	ENSP00000278070:R1422C;ENSP00000359029:R389C	ENSP00000278070:R1422C	R	+	1	0	PPRC1	103897003	0.971000	0.33674	0.998000	0.56505	0.886000	0.51366	1.175000	0.31944	1.375000	0.46248	0.462000	0.41574	CGC		0.617	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		19	35	0	0	0	0.012319	0	19	35				
CYP17A1	1586	broad.mit.edu	37	10	104594607	104594607	+	Missense_Mutation	SNP	A	A	G	rs104894150		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:104594607A>G	ENST00000369887.3	-	3	772	c.601T>C	c.(601-603)Tac>Cac	p.Y201H	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	201					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CCTTCATTGTAATTCTGTATG	0.493											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001kwg.2		NA																	0					0	GRCh37	CM051447	CYP17A1	M	rs104894150	c.(601-603)TAC>CAC		cytochrome P450, family 17	NADH(DB00157)|Progesterone(DB00396)						216.0	192.0	200.0					10																	104594607		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104594607A>G	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.601T>C	10.37:g.104594607A>G	ENSP00000358903:p.Tyr201His		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172		p.Y201H	NM_000102	NP_000093	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	773	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	201					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.601T>C	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350044	0.61183	.	.	ENSG00000148795	ENST00000369887	T	0.68624	-0.34	5.8	1.96	0.26148	.	0.312116	0.35936	N	0.002886	T	0.71736	0.3375	L	0.54323	1.7	0.24692	N	0.993309	D	0.89917	1.0	D	0.79108	0.992	T	0.60301	-0.7290	10	0.87932	D	0	.	4.2167	0.10539	0.6757:0.1305:0.0689:0.1249	.	201	P05093	CP17A_HUMAN	H	201	ENSP00000358903:Y201H	ENSP00000358903:Y201H	Y	-	1	0	CYP17A1	104584597	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	5.650000	0.67944	0.447000	0.26695	0.379000	0.24179	TAC		0.493	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		25	63	0	0	0	0.005443	0	25	63				
CFAP43	80217	broad.mit.edu	37	10	105921783	105921783	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:105921783A>T	ENST00000357060.3	-	26	3465	c.3350T>A	c.(3349-3351)cTc>cAc	p.L1117H	WDR96_ENST00000428666.1_Missense_Mutation_p.L1118H	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGAGCTCGGAGTCTTGTACT	0.478																																							uc001kxw.2		NA																	0					0						c.(3349-3351)CTC>CAC		hypothetical protein LOC80217							217.0	221.0	219.0					10																	105921783		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105921783A>T																												ENST00000357060.3:c.3350T>A	10.37:g.105921783A>T	ENSP00000349568:p.Leu1117His					C10orf79_uc009xxq.2_Missense_Mutation_p.L425H	p.L1117H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	26	3466	-		Colorectal(252;0.178)	1117						Missense_Mutation	SNP	ENST00000357060.3	37	c.3350T>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.08|12.08	1.831287|1.831287	0.32329|0.32329	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.14022|.	2.55;2.54|.	5.73|5.73	-11.0|-11.0	0.00169|0.00169	.|.	0.955176|.	0.08790|.	N|.	0.893355|.	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.10450|.	0.005;0.004|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.41790|.	T|.	0.15|.	.|.	14.4667|14.4667	0.67490|0.67490	0.0835:0.1251:0.0:0.7914|0.0835:0.1251:0.0:0.7914	.|.	1118;1117|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	H|T	1117;1118|478	ENSP00000349568:L1117H;ENSP00000400289:L1118H|.	ENSP00000349568:L1117H|.	L|S	-|-	2|1	0|0	WDR96|WDR96	105911773|105911773	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.136000|0.136000	0.21042|0.21042	-0.619000|-0.619000	0.05572|0.05572	-2.225000|-2.225000	0.00724|0.00724	-0.482000|-0.482000	0.04802|0.04802	CTC|TCC		0.478	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				72	169	0	0	0	0.01441	0	72	169				
MKI67	4288	broad.mit.edu	37	10	129901458	129901458	+	Silent	SNP	C	C	T	rs372328060		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:129901458C>T	ENST00000368654.3	-	13	9021	c.8646G>A	c.(8644-8646)acG>acA	p.T2882T	MKI67_ENST00000368653.3_Silent_p.T2522T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2882	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAAATGCTTTCGTGCCTTTGC	0.542																																							uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8644-8646)ACG>ACA		antigen identified by monoclonal antibody Ki-67		C	,	1,4405	2.1+/-5.4	0,1,2202	188.0	172.0	177.0		7566,8646	-5.3	0.0	10		177	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2522/2897,2882/3257	129901458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901458C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8646G>A	10.37:g.129901458C>T						MKI67_uc001lkf.2_Silent_p.T2522T|MKI67_uc009yav.1_Silent_p.T2457T|MKI67_uc009yaw.1_Silent_p.T2032T	p.T2882T	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8841	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2882			16 X 122 AA approximate repeats.|16.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.8646G>A	CCDS7659.1																																																																																				0.542	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	104	0	0	0	0.010729	0	9	104				
ANO9	338440	broad.mit.edu	37	11	433355	433355	+	Missense_Mutation	SNP	G	G	T	rs145003945		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:433355G>T	ENST00000332826.6	-	4	393	c.309C>A	c.(307-309)caC>caA	p.H103Q		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	103					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCAGCTCGGCGTGGGGGGCAG	0.642																																							uc001lpi.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(307-309)CAC>CAA		tumor protein p53 inducible protein 5							77.0	81.0	80.0					11																	433355		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:433355G>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.309C>A	11.37:g.433355G>T	ENSP00000332788:p.His103Gln					ANO9_uc010qvv.1_5'UTR	p.H103Q	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			4	394	-			103			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.309C>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	5.061	0.196965	0.09599	.	.	ENSG00000185101	ENST00000332826	T	0.64618	-0.11	4.05	-8.09	0.01090	.	2146.030000	0.00166	N	0.000000	T	0.35128	0.0921	N	0.14661	0.345	0.09310	N	1	B	0.28552	0.215	B	0.20577	0.03	T	0.28267	-1.0049	10	0.27082	T	0.32	.	2.3706	0.04330	0.2894:0.3853:0.1977:0.1276	.	103	A1A5B4	ANO9_HUMAN	Q	103	ENSP00000332788:H103Q	ENSP00000332788:H103Q	H	-	3	2	ANO9	423355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.882000	0.00092	-2.969000	0.00287	-1.629000	0.00783	CAC		0.642	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		23	37	1	0	7.4402e-23	0.003954	1.27124e-22	23	37				
ART1	417	broad.mit.edu	37	11	3681265	3681265	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:3681265C>A	ENST00000250693.1	+	3	617	c.516C>A	c.(514-516)ccC>ccA	p.P172P		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	172					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGCGTCCACCCCGGTGCCACC	0.692																																							uc001lye.1		NA																	0					0						c.(514-516)CCC>CCA		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						29.0	31.0	30.0					11																	3681265		2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681265C>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.516C>A	11.37:g.3681265C>A						ART1_uc009yeb.1_Silent_p.P172P	p.P172P	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	617	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	172					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.516C>A	CCDS7744.1																																																																																				0.692	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		18	29	1	0	4.75885e-15	0.00499	7.26499e-15	18	29				
OR52B4	143496	broad.mit.edu	37	11	4389414	4389414	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4389414C>T	ENST00000408920.2	-	1	202	c.112G>A	c.(112-114)Gtc>Atc	p.V38I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	38					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCGGTGACATAGGAAATG	0.527																																							uc010qye.1		NA																	0					0						c.(112-114)GTC>ATC		olfactory receptor, family 52, subfamily B,							64.0	68.0	67.0					11																	4389414		2098	4236	6334	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389414C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.112G>A	11.37:g.4389414C>T	ENSP00000386160:p.Val38Ile						p.V38I	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	112	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	38			Helical; Name=1; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.112G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698009	0.00725	.	.	ENSG00000221996	ENST00000408920	T	0.02916	4.11	4.94	-0.694	0.11294	.	0.793223	0.10884	N	0.623450	T	0.01189	0.0039	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49173	-0.8967	10	0.10636	T	0.68	.	4.6027	0.12361	0.0:0.3137:0.2935:0.3929	.	38	Q8NGK2	O52B4_HUMAN	I	38	ENSP00000386160:V38I	ENSP00000386160:V38I	V	-	1	0	OR52B4	4345990	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.394000	0.00241	0.008000	0.14787	0.655000	0.94253	GTC		0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		7	18	0	0	0	0.001984	0	7	18				
OR51S1	119692	broad.mit.edu	37	11	4870090	4870090	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4870090C>T	ENST00000322101.2	-	1	424	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACTCCATGACAGAAAAGACA	0.557																																							uc010qyo.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(349-351)GTC>ATC		olfactory receptor, family 51, subfamily S,							103.0	96.0	98.0					11																	4870090		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870090C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.349G>A	11.37:g.4870090C>T	ENSP00000322754:p.Val117Ile						p.V117I	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	349	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	117			Helical; Name=3; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.349G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	4.953	0.176946	0.09443	.	.	ENSG00000176922	ENST00000322101	T	0.19669	2.13	4.98	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001662	T	0.10380	0.0254	N	0.16790	0.44	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.29427	-1.0012	10	0.20519	T	0.43	-16.2949	5.4154	0.16370	0.146:0.6324:0.1416:0.0801	.	117	Q8NGJ8	O51S1_HUMAN	I	117	ENSP00000322754:V117I	ENSP00000322754:V117I	V	-	1	0	OR51S1	4826666	0.000000	0.05858	0.984000	0.44739	0.918000	0.54935	0.017000	0.13399	0.676000	0.31285	0.655000	0.94253	GTC		0.557	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		31	66	0	0	0	0.010818	0	31	66				
OR51G2	81282	broad.mit.edu	37	11	4935983	4935983	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4935983A>T	ENST00000322013.3	-	1	939	c.911T>A	c.(910-912)aTc>aAc	p.I304N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGATCCCGGATCTGTTTGGT	0.473																																							uc001lzr.1		NA																	0				skin(2)	2						c.(910-912)ATC>AAC		olfactory receptor, family 51, subfamily G,							94.0	78.0	83.0					11																	4935983		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4935983A>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.911T>A	11.37:g.4935983A>T	ENSP00000322593:p.Ile304Asn						p.I304N	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	911	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	304			Cytoplasmic (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.911T>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.031613	0.75504	.	.	ENSG00000176893	ENST00000322013	T	0.39592	1.07	5.23	4.05	0.47172	.	0.000000	0.46758	D	0.000273	T	0.68696	0.3029	H	0.97340	3.985	0.41982	D	0.990806	D	0.67145	0.996	P	0.54924	0.764	T	0.80256	-0.1458	10	0.87932	D	0	.	11.4333	0.50054	0.85:0.15:0.0:0.0	.	304	Q8NGK0	O51G2_HUMAN	N	304	ENSP00000322593:I304N	ENSP00000322593:I304N	I	-	2	0	OR51G2	4892559	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	8.762000	0.91711	2.203000	0.70933	0.528000	0.53228	ATC		0.473	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		8	26	0	0	0	0.00308	0	8	26				
OR52A1	23538	broad.mit.edu	37	11	5173074	5173074	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:5173074C>T	ENST00000380367.1	-	2	943	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	OR52A1_ENST00000328942.1_Missense_Mutation_p.V176I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	176					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGAGATGACTGTTGTGTGA	0.433																																							uc010qyy.1		NA																	0				ovary(1)|breast(1)	2						c.(526-528)GTC>ATC		olfactory receptor, family 52, subfamily A,							153.0	150.0	151.0					11																	5173074		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173074C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.526G>A	11.37:g.5173074C>T	ENSP00000369725:p.Val176Ile						p.V176I	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	526	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	176			Extracellular (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.526G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.082513	0.01888	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00076	8.76;8.76	5.37	0.0347	0.14185	GPCR, rhodopsin-like superfamily (1);	0.308551	0.23171	N	0.051122	T	0.00073	0.0002	N	0.20483	0.58	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.43988	-0.9357	10	0.02654	T	1	.	2.1269	0.03741	0.1354:0.4937:0.1315:0.2394	.	176	Q9UKL2	O52A1_HUMAN	I	176	ENSP00000369725:V176I;ENSP00000333684:V176I	ENSP00000333684:V176I	V	-	1	0	OR52A1	5129650	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.742000	0.04850	-0.140000	0.11394	0.655000	0.94253	GTC		0.433	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		25	57	0	0	0	0.009535	0	25	57				
SAA2	6289	broad.mit.edu	37	11	18269517	18269517	+	Silent	SNP	C	C	G	rs377227815		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:18269517C>G	ENST00000526900.1	-	2	225	c.42G>C	c.(40-42)ctG>ctC	p.L14L	SAA2_ENST00000414546.2_Silent_p.L14L|SAA2_ENST00000528349.1_Silent_p.L14L|SAA2_ENST00000256733.4_Silent_p.L14L|SAA2-SAA4_ENST00000524555.1_RNA|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000530400.1_Silent_p.L14L|SAA2_ENST00000529528.1_Silent_p.L14L			P0DJI9	SAA2_HUMAN	serum amyloid A2	14					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TGCTGACACTCAGGACCAAGG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19986	0.0		0.0	False		,,,				2504	0.0						uc001mnz.3		NA																	0					0						c.(40-42)CTG>CTC		serum amyloid A2 isoform a	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						152.0	134.0	140.0					11																	18269517		2198	4291	6489	SO:0001819	synonymous_variant	6289				acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding	g.chr11:18269517C>G	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.42G>C	11.37:g.18269517C>G						SAA2_uc009yhj.2_Silent_p.L14L	p.L14L	NM_030754	NP_110381	P02735	SAA_HUMAN			2	79	-			14					G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	ENST00000526900.1	37	c.42G>C	CCDS7833.1																																																																																				0.517	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		4	61	0	0	0	0.009096	0	4	61				
IGSF22	283284	broad.mit.edu	37	11	18740270	18740270	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:18740270G>T	ENST00000513874.1	-	8	841	c.702C>A	c.(700-702)atC>atA	p.I234I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	234	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCAGAATCCGGATGGCCTGAG	0.458																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(700-702)ATC>ATA		immunoglobulin superfamily, member 22							133.0	134.0	133.0					11																	18740270		1861	4094	5955	SO:0001819	synonymous_variant	283284							g.chr11:18740270G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.702C>A	11.37:g.18740270G>T						IGSF22_uc001mpa.2_RNA	p.I234I	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			8	892	-			234			Ig-like 2.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.702C>A	CCDS41625.2																																																																																				0.458	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		20	52	1	0	2.89027e-11	0.014323	3.97701e-11	20	52				
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453																																							uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(358-360)GCC>ACC		olfactory receptor, family 5, subfamily D,							167.0	162.0	164.0					11																	55587463		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587463G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.358G>A	11.37:g.55587463G>A	ENSP00000335025:p.Ala120Thr						p.A120T	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	358	+		all_epithelial(135;0.208)	120			Helical; Name=3; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.358G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036021	0.75617	.	.	ENSG00000186119	ENST00000333976	T	0.54071	0.59	4.84	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001428	T	0.68869	0.3048	H	0.96365	3.81	0.35287	D	0.781833	P	0.50369	0.934	P	0.44696	0.458	D	0.84873	0.0826	10	0.87932	D	0	-38.6253	13.543	0.61686	0.0:0.0:0.8427:0.1573	.	120	Q8NGL1	OR5DI_HUMAN	T	120	ENSP00000335025:A120T	ENSP00000335025:A120T	A	+	1	0	OR5D18	55344039	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	3.767000	0.55288	1.190000	0.43042	0.560000	0.71715	GCC		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		30	95	0	0	0	0.008361	0	30	95				
OR5L2	26338	broad.mit.edu	37	11	55594811	55594811	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55594811G>T	ENST00000378397.1	+	1	117	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAATC	0.507										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(115-117)TTG>TTT		olfactory receptor, family 5, subfamily L,							310.0	272.0	285.0					11																	55594811		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594811G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.117G>T	11.37:g.55594811G>T	ENSP00000367650:p.Leu39Phe	HNSCC(27;0.073)					p.L39F	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	117	+		all_epithelial(135;0.208)	39			Helical; Name=1; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.117G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	7.017	0.557853	0.13436	.	.	ENSG00000205030	ENST00000378397	T	0.00558	6.61	5.31	-9.85	0.00476	.	0.380249	0.19348	N	0.116465	T	0.00496	0.0016	M	0.67625	2.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46456	-0.9190	10	0.62326	D	0.03	-23.9225	8.656	0.34064	0.1585:0.0656:0.6325:0.1434	.	39	Q8NGL0	OR5L2_HUMAN	F	39	ENSP00000367650:L39F	ENSP00000367650:L39F	L	+	3	2	OR5L2	55351387	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-2.962000	0.00672	-1.348000	0.02205	-0.333000	0.08304	TTG		0.507	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		12	237	1	0	4.93089e-13	0.00245	7.29037e-13	12	237				
OR5T2	219464	broad.mit.edu	37	11	55999732	55999732	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55999732G>T	ENST00000313264.4	-	1	1005	c.930C>A	c.(928-930)gaC>gaA	p.D310E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACACTATCATGTCATGGTCCG	0.398																																							uc010rjc.1		NA																	0				ovary(2)	2						c.(928-930)GAC>GAA		olfactory receptor, family 5, subfamily T,							190.0	167.0	175.0					11																	55999732		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999732G>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.930C>A	11.37:g.55999732G>T	ENSP00000323688:p.Asp310Glu						p.D310E	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	930	-	Esophageal squamous(21;0.00448)		310			Extracellular (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.930C>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425094	0.43020	.	.	ENSG00000181718	ENST00000313264	T	0.00227	8.5	5.07	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.156614	0.29493	U	0.011995	T	0.00271	0.0008	M	0.72353	2.195	0.23953	N	0.996368	P	0.41313	0.745	P	0.49387	0.609	T	0.35425	-0.9789	10	0.54805	T	0.06	.	6.4372	0.21829	0.2562:0.136:0.6078:0.0	.	310	Q8NGG2	OR5T2_HUMAN	E	310	ENSP00000323688:D310E	ENSP00000323688:D310E	D	-	3	2	OR5T2	55756308	0.055000	0.20627	1.000000	0.80357	0.216000	0.24613	0.809000	0.27168	0.595000	0.29777	0.478000	0.44815	GAC		0.398	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		23	83	1	0	1.04121e-07	0.005443	1.28226e-07	23	83				
OR5M10	390167	broad.mit.edu	37	11	56344661	56344661	+	Silent	SNP	G	G	A	rs369067076		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:56344661G>A	ENST00000526812.2	-	1	602	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAGGATCAGCGCAGTAGAAAT	0.468																																							uc001niz.1		NA																	0					0						c.(535-537)TGC>TGT		olfactory receptor, family 5, subfamily M,		A		0,3900		0,0,1950	82.0	80.0	81.0		537	1.7	0.9	11		81	3,8245		0,3,4121	no	coding-synonymous	OR5M10	NM_001004741.1		0,3,6071	AA,AG,GG		0.0364,0.0,0.0247		179/316	56344661	3,12145	1950	4124	6074	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344661G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.537C>T	11.37:g.56344661G>A							p.C179C	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	537	-			179			Extracellular (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.537C>T	CCDS53630.1																																																																																				0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		20	25	0	0	0	0.005443	0	20	25				
OR10W1	81341	broad.mit.edu	37	11	58034615	58034615	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:58034615A>G	ENST00000395079.2	-	1	1117	c.716T>C	c.(715-717)gTg>gCg	p.V239A		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CTGCAGCAGCACCACAGTGAG	0.582																																							uc001nmq.1		NA																	0				ovary(1)	1						c.(715-717)GTG>GCG		olfactory receptor, family 10, subfamily W,							83.0	80.0	81.0					11																	58034615		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034615A>G	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.716T>C	11.37:g.58034615A>G	ENSP00000378516:p.Val239Ala						p.V239A	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1118	-		Breast(21;0.0589)	239			Helical; Name=6; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.716T>C	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419280	0.62622	.	.	ENSG00000172772	ENST00000395079	T	0.00362	7.84	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000367	T	0.00815	0.0027	M	0.92459	3.31	0.31844	N	0.623083	D	0.52996	0.957	P	0.51453	0.67	T	0.08066	-1.0740	10	0.87932	D	0	.	15.8082	0.78531	1.0:0.0:0.0:0.0	.	239	Q8NGF6	O10W1_HUMAN	A	239	ENSP00000378516:V239A	ENSP00000378516:V239A	V	-	2	0	OR10W1	57791191	0.997000	0.39634	0.977000	0.42913	0.389000	0.30415	4.508000	0.60441	2.212000	0.71576	0.533000	0.62120	GTG		0.582	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		31	79	0	0	0	0.003755	0	31	79				
MS4A14	84689	broad.mit.edu	37	11	60184092	60184092	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:60184092C>A	ENST00000300187.6	+	5	1928	c.1651C>A	c.(1651-1653)Caa>Aaa	p.Q551K	MS4A14_ENST00000395005.2_Missense_Mutation_p.Q534K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q439K|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q584K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	551	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CGTAGATAAGCAAGCTCAACT	0.448																																							uc001npj.2		NA																	0				breast(1)	1						c.(1651-1653)CAA>AAA		membrane-spanning 4-domains, subfamily A, member							91.0	84.0	86.0					11																	60184092		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60184092C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1651C>A	11.37:g.60184092C>A	ENSP00000300187:p.Gln551Lys					MS4A14_uc001npi.2_Missense_Mutation_p.Q439K|MS4A14_uc001npn.2_Missense_Mutation_p.Q289K|MS4A14_uc001npk.2_Missense_Mutation_p.Q534K|MS4A14_uc001npl.2_Missense_Mutation_p.Q289K|MS4A14_uc001npm.2_Missense_Mutation_p.Q289K	p.Q551K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2216	+			551			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1651C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330289	0.24167	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.38722	1.12;2.29;1.14;2.66	4.35	-2.1	0.07210	.	.	.	.	.	T	0.33089	0.0851	M	0.61703	1.905	0.09310	N	0.999995	B;B	0.27229	0.172;0.107	B;B	0.25140	0.058;0.026	T	0.34378	-0.9831	9	0.13853	T	0.58	-2.7557	8.2011	0.31426	0.287:0.3377:0.3752:0.0	.	534;551	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	439;551;534;584	ENSP00000437222:Q439K;ENSP00000300187:Q551K;ENSP00000378453:Q534K;ENSP00000433761:Q584K	ENSP00000300187:Q551K	Q	+	1	0	MS4A14	59940668	0.000000	0.05858	0.009000	0.14445	0.042000	0.13812	-0.178000	0.09782	-0.138000	0.11434	0.655000	0.94253	CAA		0.448	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			10	25	1	0	0.000442599	0.006214	0.000480803	10	25				
PAAF1	80227	broad.mit.edu	37	11	73625495	73625495	+	Silent	SNP	C	C	G	rs150921516		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:73625495C>G	ENST00000310571.3	+	8	818	c.765C>G	c.(763-765)ctC>ctG	p.L255L	PAAF1_ENST00000544552.1_Silent_p.L238L|PAAF1_ENST00000544909.1_Silent_p.L256L|PAAF1_ENST00000536003.1_Silent_p.L238L|PAAF1_ENST00000541951.1_Silent_p.L140L|PAAF1_ENST00000535604.1_Silent_p.L140L|PAAF1_ENST00000376384.5_Silent_p.L238L	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	255					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AAATGCTGCTCTTGGCCCGGG	0.502																																							uc001ouk.1		NA																	0				ovary(1)|skin(1)	2						c.(763-765)CTC>CTG		proteasomal ATPase-associated factor 1		C		0,4400		0,0,2200	117.0	98.0	104.0		765	-0.7	0.9	11	dbSNP_134	104	8,8578	6.4+/-24.3	0,8,4285	no	coding-synonymous	PAAF1	NM_025155.1		0,8,6485	GG,GC,CC		0.0932,0.0,0.0616		255/393	73625495	8,12978	2200	4293	6493	SO:0001819	synonymous_variant	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73625495C>G	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.765C>G	11.37:g.73625495C>G						PAAF1_uc001oul.1_Silent_p.L238L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L238L	p.L255L	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			8	799	+	Breast(11;7.42e-05)		255					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Silent	SNP	ENST00000310571.3	37	c.765C>G	CCDS8226.1																																																																																				0.502	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		6	53	0	0	0	0.001984	0	6	53				
RPS3	6188	broad.mit.edu	37	11	75115797	75115797	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:75115797A>G	ENST00000531188.1	+	6	682	c.620A>G	c.(619-621)cAc>cGc	p.H207R	RPS3_ENST00000534440.1_Missense_Mutation_p.H122R|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000278572.6_Missense_Mutation_p.H223R|RPS3_ENST00000526608.1_Missense_Mutation_p.H195R|RPS3_ENST00000524851.1_Missense_Mutation_p.H207R|RPS3_ENST00000527446.1_Missense_Mutation_p.H207R	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	207					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CTGCCTGACCACGTGAGCATT	0.582																																							uc001owh.2		NA																	0					0						c.(619-621)CAC>CGC		ribosomal protein S3							77.0	70.0	73.0					11																	75115797		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75115797A>G		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.620A>G	11.37:g.75115797A>G	ENSP00000434643:p.His207Arg					RPS3_uc001owi.2_Missense_Mutation_p.H207R|RPS3_uc001owk.1_Missense_Mutation_p.H81R	p.H207R	NM_001005	NP_000996	P23396	RS3_HUMAN			6	650	+			207					B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.620A>G	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	4.496|4.496	0.091911|0.091911	0.08632|0.08632	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000531188;ENST00000422465;ENST00000278572;ENST00000534440;ENST00000527446;ENST00000526608;ENST00000524851|ENST00000525933	.|.	.|.	.|.	5.13|5.13	4.0|4.0	0.46444|0.46444	.|.	0.134133|.	0.64402|.	N|.	0.000002|.	T|T	0.60418|0.60418	0.2267|0.2267	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.56956|0.56956	-0.7893|-0.7893	9|5	0.48119|.	T|.	0.1|.	-7.6534|-7.6534	10.4449|10.4449	0.44488|0.44488	0.8362:0.1638:0.0:0.0|0.8362:0.1638:0.0:0.0	.|.	207|.	P23396|.	RS3_HUMAN|.	R|A	207;81;223;122;207;195;207|135	.|.	ENSP00000278572:H223R|.	H|T	+|+	2|1	0|0	RPS3|RPS3	74793445|74793445	1.000000|1.000000	0.71417|0.71417	0.527000|0.527000	0.27925|0.27925	0.144000|0.144000	0.21451|0.21451	9.139000|9.139000	0.94554|0.94554	0.975000|0.975000	0.38392|0.38392	-0.319000|-0.319000	0.08680|0.08680	CAC|ACG		0.582	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		31	42	0	0	0	0.009535	0	31	42				
CCDC89	220388	broad.mit.edu	37	11	85396231	85396231	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:85396231C>G	ENST00000316398.3	-	1	1089	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	315						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCCTCTTGCTCAAACCGCTCC	0.522																																							uc001pau.1		NA																	0					0						c.(943-945)GAG>CAG		coiled-coil domain containing 89							142.0	111.0	121.0					11																	85396231		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396231C>G	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.943G>C	11.37:g.85396231C>G	ENSP00000320649:p.Glu315Gln						p.E315Q	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	1090	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	315			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.943G>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678822	0.14841	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	4.18	0.49190	.	0.331492	0.30311	N	0.009912	T	0.41766	0.1173	L	0.55481	1.735	0.28102	N	0.93137	B	0.29301	0.241	B	0.29598	0.104	T	0.27297	-1.0078	8	.	.	.	-5.0139	10.8323	0.46667	0.0:0.6777:0.2029:0.1195	.	315	Q8N998	CCD89_HUMAN	Q	315	.	.	E	-	1	0	CCDC89	85073879	0.703000	0.27826	0.968000	0.41197	0.702000	0.40608	0.800000	0.27042	0.460000	0.27045	-0.797000	0.03246	GAG		0.522	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		24	40	0	0	0	0.003954	0	24	40				
EED	8726	broad.mit.edu	37	11	85967511	85967511	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:85967511G>T	ENST00000263360.6	+	5	1195	c.509G>T	c.(508-510)gGc>gTc	p.G170V	EED_ENST00000351625.6_Missense_Mutation_p.G170V|EED_ENST00000327320.4_Missense_Mutation_p.G170V|EED_ENST00000528180.1_Missense_Mutation_p.G170V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	170	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCTAGAGGCATAATTAGG	0.373																																							uc001pbp.2		NA																	0		p.G170S(1)		skin(1)|pancreas(1)	2						c.(508-510)GGC>GTC		embryonic ectoderm development isoform a							99.0	99.0	99.0					11																	85967511		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85967511G>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.509G>T	11.37:g.85967511G>T	ENSP00000263360:p.Gly170Val					EED_uc010rtm.1_Missense_Mutation_p.G170V|EED_uc001pbq.2_Missense_Mutation_p.G170V|EED_uc001pbr.2_Missense_Mutation_p.G170V|EED_uc001pbs.2_Missense_Mutation_p.G170V|EED_uc010rtn.1_5'Flank	p.G170V	NM_003797	NP_003788	O75530	EED_HUMAN			5	966	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	170			Interaction with EZH2 (By similarity).|WD 2.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.509G>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873637	0.91664	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.953;1.0;1.0	T	0.74604	-0.3610	9	.	.	.	-9.7026	19.5799	0.95461	0.0:0.0:1.0:0.0	.	170;170;170;170	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	170	ENSP00000263360:G170V;ENSP00000431778:G170V;ENSP00000338186:G170V;ENSP00000315587:G170V	.	G	+	2	0	EED	85645159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.732000	0.98816	2.606000	0.88127	0.585000	0.79938	GGC		0.373	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		10	25	1	0	4.84862e-15	0.010729	7.38019e-15	10	25				
BIRC2	329	broad.mit.edu	37	11	102221329	102221329	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:102221329A>G	ENST00000227758.2	+	2	2143	c.744A>G	c.(742-744)ccA>ccG	p.P248P	BIRC2_ENST00000530675.1_Silent_p.P199P|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Silent_p.P227P	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	248					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CCAACTGTCCATTTTTGGAAA	0.448																																							uc001pgy.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(742-744)CCA>CCG		baculoviral IAP repeat-containing protein 2							83.0	88.0	86.0					11																	102221329		2203	4299	6502	SO:0001819	synonymous_variant	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221329A>G	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.744A>G	11.37:g.102221329A>G						BIRC2_uc010ruq.1_Silent_p.P199P|BIRC2_uc010rur.1_Silent_p.P248P	p.P248P	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	2143	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	248			BIR 2.		B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	c.744A>G	CCDS8316.1																																																																																				0.448	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		14	52	0	0	0	0.004007	0	14	52				
ZC3H12C	85463	broad.mit.edu	37	11	110035499	110035499	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:110035499G>A	ENST00000278590.3	+	6	1740	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.M564I|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.M532I	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	563							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTCAATGATGATGGCAACCA	0.423																																							uc009yxw.2		NA																	0					0						c.(1687-1689)ATG>ATA		zinc finger CCCH-type containing 12C							121.0	113.0	116.0					11																	110035499		1969	4152	6121	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035499G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1689G>A	11.37:g.110035499G>A	ENSP00000278590:p.Met563Ile					ZC3H12C_uc010rwc.1_Missense_Mutation_p.M564I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.M564I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.M532I	p.M563I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	1740	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	563					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1689G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648182	0.29336	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.28895	1.59;1.59;1.61	6.04	4.19	0.49359	.	0.202877	0.51477	D	0.000086	T	0.23611	0.0571	L	0.44542	1.39	0.28055	N	0.933219	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14727	-1.0462	10	0.30078	T	0.28	-14.1195	8.0049	0.30319	0.132:0.0:0.7388:0.1292	.	564;563;563	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	I	563;564;532	ENSP00000278590:M563I;ENSP00000431821:M564I;ENSP00000413094:M532I	ENSP00000278590:M563I	M	+	3	0	ZC3H12C	109540709	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.985000	0.29578	0.897000	0.36392	-0.254000	0.11334	ATG		0.423	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		12	26	0	0	0	0.001855	0	12	26				
NCAM1	4684	broad.mit.edu	37	11	113078567	113078567	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:113078567G>A	ENST00000533760.1	+	7	1004	c.405G>A	c.(403-405)caG>caA	p.Q135Q	NCAM1_ENST00000401611.2_Silent_p.Q252Q|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.Q243Q	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	253	Ig-like C2-type 2.				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)		ATGGGGAACAGATAGAGCAAG	0.423																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(403-405)CAG>CAA		neural cell adhesion molecule 1 isoform 3							68.0	65.0	66.0					11																	113078567		1973	4162	6135	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078567G>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.405G>A	11.37:g.113078567G>A						NCAM1_uc001pno.2_Silent_p.Q135Q	p.Q135Q	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)	7	1099	+		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)	253			Ig-like C2-type 3.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.405G>A																																																																																					0.423	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		3	5	0	0	0	0.004672	0	3	5				
SLC37A4	2542	broad.mit.edu	37	11	118898449	118898449	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:118898449G>C	ENST00000545985.1	-	5	1271	c.515C>G	c.(514-516)tCt>tGt	p.S172C	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S172C|SLC37A4_ENST00000538950.1_Missense_Mutation_p.S99C|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S172C	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	172					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGTGCCCCAGATAGGGCCAG	0.602																																							uc010rys.1		NA																	0				large_intestine(1)	1						c.(514-516)TCT>TGT		solute carrier family 37 (glucose-6-phosphate							56.0	67.0	63.0					11																	118898449		2073	4196	6269	SO:0001583	missense	2542	Glycogen_Storage_Disease_type_Ib			glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity	g.chr11:118898449G>C	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.515C>G	11.37:g.118898449G>C	ENSP00000475241:p.Ser172Cys					SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.S172C|SLC37A4_uc010ryt.1_Missense_Mutation_p.S99C|SLC37A4_uc001pus.2_Missense_Mutation_p.S172C	p.S172C	NM_001164277	NP_001157749	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	5	1272	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	172			Helical; (Potential).		O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.515C>G																																																																																					0.602	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		5	19	0	0	0	0.000602	0	5	19				
TRIM29	23650	broad.mit.edu	37	11	119998221	119998221	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:119998221C>A	ENST00000341846.5	-	3	1378	c.957G>T	c.(955-957)cgG>cgT	p.R319R	TRIM29_ENST00000529044.1_Silent_p.R58R|TRIM29_ENST00000541857.1_Silent_p.R52R|TRIM29_ENST00000528870.1_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	319					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCTCCAGGTCCCGCACCAGGT	0.567																																							uc001pwz.2		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(955-957)CGG>CGT		tripartite motif protein TRIM29							100.0	86.0	91.0					11																	119998221		2199	4295	6494	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998221C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.957G>T	11.37:g.119998221C>A						TRIM29_uc010rzi.1_Silent_p.R58R|TRIM29_uc010rzj.1_Silent_p.R52R|TRIM29_uc001pxa.2_RNA	p.R319R	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1081	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	319			Potential.		Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.957G>T	CCDS8428.1																																																																																				0.567	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		16	55	1	0	4.7546e-09	0.004007	6.13344e-09	16	55				
ATF7IP	55729	broad.mit.edu	37	12	14610230	14610230	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:14610230G>T	ENST00000540793.1	+	7	2313		c.e7+1		ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGAATACAGGTAACTTTTTT	0.348																																							uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.e8+1		activating transcription factor 7 interacting							77.0	77.0	77.0					12																	14610230		2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14610230G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2158+1G>T	12.37:g.14610230G>T						ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.2_Splice_Site_p.V720_splice|ATF7IP_uc001rbv.1_Splice_Site_p.V719_splice|ATF7IP_uc001rbx.2_Splice_Site_p.V719_splice|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.3_Splice_Site_p.V720_splice|ATF7IP_uc001rca.2_Splice_Site_p.V720_splice	p.V720_splice	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			8	2316	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37	c.2158_splice	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429026	0.83667	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14501497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.406000	0.73276	2.866000	0.98385	0.650000	0.86243	.		0.348	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	3	13	1	0	0.004672	0.004672	0.00484087	3	13				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	6	1	0	0.000673444	0.008291	0.000722447	8	6				
ALG10	84920	broad.mit.edu	37	12	34179612	34179612	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:34179612G>T	ENST00000266483.2	+	3	1503	c.1184G>T	c.(1183-1185)tGg>tTg	p.W395L	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	395					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAATTTTTTGGAATTTAATG	0.303																																							uc001rlm.2		NA																	0				skin(1)	1						c.(1183-1185)TGG>TTG		asparagine-linked glycosylation 10 homolog							118.0	121.0	120.0					12																	34179612		2203	4300	6503	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179612G>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1184G>T	12.37:g.34179612G>T	ENSP00000266483:p.Trp395Leu						p.W395L	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			3	1503	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	395			Helical; (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.1184G>T	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562320	0.45694	.	.	ENSG00000139133	ENST00000266483	T	0.58940	0.3	3.19	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.68819	-0.5308	10	0.28530	T	0.3	.	12.2707	0.54704	0.0:0.0:1.0:0.0	.	395	Q5BKT4	AG10A_HUMAN	L	395	ENSP00000266483:W395L	ENSP00000266483:W395L	W	+	2	0	ALG10	34070879	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	7.513000	0.81739	1.502000	0.48669	0.184000	0.17185	TGG		0.303	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		17	51	1	0	5.35267e-07	0.007413	6.39346e-07	17	51				
KMT2D	8085	broad.mit.edu	37	12	49447314	49447314	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:49447314C>A	ENST00000301067.7	-	6	783	c.784G>T	c.(784-786)Gcc>Tcc	p.A262S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L260fs*8(1)									CGTTTGCGGGCAGTCAGAGCA	0.582																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(784-786)GCC>TCC		myeloid/lymphoid or mixed-lineage leukemia 2							31.0	33.0	33.0					12																	49447314		2060	4201	6261	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49447314C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.784G>T	12.37:g.49447314C>A	ENSP00000301067:p.Ala262Ser	HNSCC(34;0.089)					p.A262S	NM_003482	NP_003473	O14686	MLL2_HUMAN			6	784	-			262			Cys-rich.|PHD-type 1.|RING-type 1; atypical.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.784G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855192	0.32791	.	.	ENSG00000167548	ENST00000301067	D	0.87256	-2.23	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35013	N	0.003511	T	0.80470	0.4629	N	0.14661	0.345	0.28183	N	0.928092	P	0.52842	0.956	P	0.46718	0.525	T	0.77560	-0.2542	10	0.87932	D	0	.	12.3185	0.54971	0.0:0.7089:0.2911:0.0	.	262	O14686	MLL2_HUMAN	S	262	ENSP00000301067:A262S	ENSP00000301067:A262S	A	-	1	0	MLL2	47733581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.673000	0.61604	2.340000	0.79590	0.561000	0.74099	GCC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	8	1	0	0.000602214	0.000602	0.000650089	5	8				
OR9K2	441639	broad.mit.edu	37	12	55523560	55523560	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:55523560G>T	ENST00000305377.5	+	1	96	c.8G>T	c.(7-9)gGa>gTa	p.G3V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	3						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTAATGCTAGGATCCAAACCA	0.338																																							uc010spe.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(7-9)GGA>GTA		olfactory receptor, family 9, subfamily K,							137.0	138.0	138.0					12																	55523560		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523560G>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.8G>T	12.37:g.55523560G>T	ENSP00000307598:p.Gly3Val						p.G3V	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	8	+			3			Extracellular (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.8G>T	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955281	0.18507	.	.	ENSG00000170605	ENST00000305377	T	0.00470	7.2	4.98	-1.27	0.09347	.	3.067170	0.02052	U	0.050115	T	0.00241	0.0007	N	0.08118	0	0.09310	N	0.999999	B	0.32968	0.392	B	0.27076	0.076	T	0.38972	-0.9636	10	0.72032	D	0.01	33.2604	5.239	0.15462	0.4146:0.1403:0.4451:0.0	.	3	Q8NGE7	OR9K2_HUMAN	V	3	ENSP00000307598:G3V	ENSP00000307598:G3V	G	+	2	0	OR9K2	53809827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.573000	0.05874	-0.348000	0.08286	-0.145000	0.13849	GGA		0.338	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			12	46	1	0	0.00010058	0.013537	0.000111133	12	46				
FAM19A2	338811	broad.mit.edu	37	12	62148676	62148676	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:62148676C>A	ENST00000416284.3	-	3	1820	c.236G>T	c.(235-237)cGa>cTa	p.R79L	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R79L|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502																																							uc001sqw.2		NA																	0				ovary(1)	1						c.(235-237)CGA>CTA		family with sequence similarity 19 (chemokine							168.0	115.0	133.0					12																	62148676		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62148676C>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.236G>T	12.37:g.62148676C>A	ENSP00000393987:p.Arg79Leu					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.R79L|FAM19A2_uc001sqy.2_RNA	p.R79L	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1749	-			79					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.236G>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534159	0.85812	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.74168	0.3681	M	0.84846	2.72	0.80722	D	1	P	0.36315	0.547	B	0.39339	0.297	T	0.76088	-0.3087	8	.	.	.	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	79	Q8N3H0	F19A2_HUMAN	L	79;79;80;86;80	.	.	R	-	2	0	FAM19A2	60434943	1.000000	0.71417	0.960000	0.40013	0.485000	0.33311	7.752000	0.85141	2.455000	0.83008	0.558000	0.71614	CGA		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		8	42	1	0	0.000442599	0.006214	0.000480803	8	42				
PPFIA2	8499	broad.mit.edu	37	12	81741445	81741445	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:81741445G>T	ENST00000549396.1	-	18	2259	c.2099C>A	c.(2098-2100)cCa>cAa	p.P700Q	PPFIA2_ENST00000550359.2_Missense_Mutation_p.P547Q|PPFIA2_ENST00000550584.2_Missense_Mutation_p.P700Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P626Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P700Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P601Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P682Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P267Q|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P700Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P682Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	700					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAGGTACCTGGGTGGACCCT	0.512																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2098-2100)CCA>CAA		PTPRF interacting protein alpha 2							129.0	136.0	133.0					12																	81741445		1976	4146	6122	SO:0001583	missense	8499							g.chr12:81741445G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2099C>A	12.37:g.81741445G>T	ENSP00000450337:p.Pro700Gln					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.P700Q	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2260	-			626					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2099C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613618	0.28712	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.51	4.61	0.57282	.	0.194073	0.45606	N	0.000341	T	0.35740	0.0942	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10660	-1.0620	10	0.24483	T	0.36	-13.0713	14.7168	0.69275	0.0:0.0:0.7244:0.2756	.	700	O75334	LIPA2_HUMAN	Q	700;682;267;626;711;682;700;601;700	ENSP00000450337:P700Q;ENSP00000450298:P682Q;ENSP00000438337:P267Q;ENSP00000385093:P626Q;ENSP00000327416:P682Q;ENSP00000449338:P700Q;ENSP00000388373:P601Q;ENSP00000447868:P700Q	ENSP00000327416:P682Q	P	-	2	0	PPFIA2	80265576	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.493000	0.53266	1.423000	0.47198	0.650000	0.86243	CCA		0.512	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			30	104	1	0	8.16721e-17	0.010818	1.3007e-16	30	104				
CCER1	196477	broad.mit.edu	37	12	91348430	91348430	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:91348430G>C	ENST00000358859.2	-	1	523	c.90C>G	c.(88-90)gcC>gcG	p.A30A	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	30																	AGCTCAAGGAGGCCGAGTGTG	0.652																																							uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(88-90)GCC>GCG		hypothetical protein LOC196477							12.0	11.0	12.0					12																	91348430		2196	4295	6491	SO:0001819	synonymous_variant	196477							g.chr12:91348430G>C	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.90C>G	12.37:g.91348430G>C							p.A30A	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	524	-			30					Q8TC47	Silent	SNP	ENST00000358859.2	37	c.90C>G	CCDS9036.1																																																																																				0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		5	11	0	0	0	0.000602	0	5	11				
LUM	4060	broad.mit.edu	37	12	91502420	91502420	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:91502420A>T	ENST00000266718.4	-	2	791	c.337T>A	c.(337-339)Tct>Act	p.S113T	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	113					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTCAATTTAGAGAAAACTCTC	0.418																																							uc001tbm.2		NA																	0				central_nervous_system(2)	2						c.(337-339)TCT>ACT		lumican precursor							79.0	81.0	80.0					12																	91502420		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502420A>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.337T>A	12.37:g.91502420A>T	ENSP00000266718:p.Ser113Thr					LUM_uc001tbn.2_Intron	p.S113T	NM_002345	NP_002336	P51884	LUM_HUMAN			2	726	-			113			LRR 2.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.337T>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868545	0.51588	.	.	ENSG00000139329	ENST00000266718	T	0.58797	0.31	5.42	4.21	0.49690	.	0.173783	0.50627	D	0.000117	T	0.49389	0.1554	L	0.31157	0.91	0.41847	D	0.990158	B	0.32382	0.368	B	0.39152	0.292	T	0.53920	-0.8370	10	0.48119	T	0.1	-10.9943	12.5304	0.56111	0.7631:0.2369:0.0:0.0	.	113	P51884	LUM_HUMAN	T	113	ENSP00000266718:S113T	ENSP00000266718:S113T	S	-	1	0	LUM	90026551	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.820000	0.48057	2.194000	0.70268	0.528000	0.53228	TCT		0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		11	31	0	0	0	0.008291	0	11	31				
CMKLR1	1240	broad.mit.edu	37	12	108686252	108686252	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:108686252A>T	ENST00000312143.7	-	3	851	c.488T>A	c.(487-489)aTc>aAc	p.I163N	CMKLR1_ENST00000412676.1_Missense_Mutation_p.I163N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.I163N|CMKLR1_ENST00000397688.2_Missense_Mutation_p.I161N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.I161N	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	163					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGGACCCAGATGACCATGCA	0.562																																							uc009zuw.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(487-489)ATC>AAC		chemokine-like receptor 1 isoform a							83.0	84.0	84.0					12																	108686252		2096	4233	6329	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686252A>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.488T>A	12.37:g.108686252A>T	ENSP00000311733:p.Ile163Asn					CMKLR1_uc001tmw.2_Missense_Mutation_p.I163N|CMKLR1_uc001tmv.2_Missense_Mutation_p.I161N|CMKLR1_uc009zuv.2_Missense_Mutation_p.I163N	p.I163N	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	679	-			163			Helical; Name=4; (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.488T>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	a	14.51	2.556641	0.45487	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.356100	0.30193	N	0.010187	D	0.84606	0.5509	M	0.86502	2.82	0.27407	N	0.954693	D	0.53619	0.961	P	0.59948	0.866	T	0.80500	-0.1355	10	0.87932	D	0	.	9.0574	0.36414	0.9178:0.0:0.0822:0.0	.	163	Q99788	CML1_HUMAN	N	163;163;161;161;163	ENSP00000311733:I163N;ENSP00000401293:I163N;ENSP00000380803:I161N;ENSP00000447579:I161N;ENSP00000449716:I163N	ENSP00000311733:I163N	I	-	2	0	CMKLR1	107210382	1.000000	0.71417	0.948000	0.38648	0.452000	0.32318	3.456000	0.53000	2.019000	0.59389	0.454000	0.30748	ATC		0.562	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			21	62	0	0	0	0.014323	0	21	62				
CUX2	23316	broad.mit.edu	37	12	111748436	111748436	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:111748436C>T	ENST00000261726.6	+	15	2004	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGTTCCTGTCGGATGAGCAG	0.647																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1849-1851)TCG>TTG		cut-like 2							41.0	44.0	43.0					12																	111748436		2072	4208	6280	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748436C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1850C>T	12.37:g.111748436C>T	ENSP00000261726:p.Ser617Leu						p.S617L	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	2003	+			617			CUT 1.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1850C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881451	0.72294	.	.	ENSG00000111249	ENST00000261726	T	0.53423	0.62	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.057544	0.64402	D	0.000001	T	0.68495	0.3007	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.73036	-0.4109	10	0.87932	D	0	-12.2556	18.2511	0.90004	0.0:1.0:0.0:0.0	.	617	O14529	CUX2_HUMAN	L	617	ENSP00000261726:S617L	ENSP00000261726:S617L	S	+	2	0	CUX2	110232819	1.000000	0.71417	0.955000	0.39395	0.200000	0.23975	7.814000	0.86154	2.312000	0.78011	0.313000	0.20887	TCG		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		10	38	0	0	0	0.006214	0	10	38				
TBX5	6910	broad.mit.edu	37	12	114841655	114841655	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:114841655G>T	ENST00000310346.4	-	2	715	c.49C>A	c.(49-51)Cct>Act	p.P17T	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Missense_Mutation_p.P17T|TBX5_ENST00000526441.1_Missense_Mutation_p.P17T|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	17				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGCGTCAGGCTCCAGAGGC	0.687																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(49-51)CCT>ACT		T-box 5 isoform 1							30.0	36.0	34.0					12																	114841655		2202	4300	6502	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841655G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.49C>A	12.37:g.114841655G>T	ENSP00000309913:p.Pro17Thr					TBX5_uc001tvp.2_Missense_Mutation_p.P17T|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.P17T	p.P17T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	544	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		17	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.49C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424730	0.43020	.	.	ENSG00000089225	ENST00000310346;ENST00000405440;ENST00000526441	D;D;D	0.87491	-2.26;-2.26;-2.23	5.31	4.37	0.52481	.	0.848707	0.10830	N	0.629401	T	0.78880	0.4353	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.23249	0.082;0.02	B;B	0.21708	0.036;0.016	T	0.68108	-0.5496	10	0.51188	T	0.08	.	10.2988	0.43639	0.0876:0.226:0.6864:0.0	.	17;17	Q99593-2;Q99593	.;TBX5_HUMAN	T	17	ENSP00000309913:P17T;ENSP00000384152:P17T;ENSP00000433292:P17T	ENSP00000309913:P17T	P	-	1	0	TBX5	113326038	0.248000	0.23930	0.997000	0.53966	0.961000	0.63080	0.346000	0.19997	2.476000	0.83614	0.655000	0.94253	CCT		0.687	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		9	27	1	0	2.17888e-05	0.006214	2.47099e-05	9	27				
MED13L	23389	broad.mit.edu	37	12	116534519	116534519	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:116534519C>A	ENST00000281928.3	-	4	640	c.434G>T	c.(433-435)tGg>tTg	p.W145L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	145						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCGGACAAACCATTTCCCAAT	0.388																																							uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(433-435)TGG>TTG		mediator complex subunit 13-like							139.0	122.0	128.0					12																	116534519		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116534519C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.434G>T	12.37:g.116534519C>A	ENSP00000281928:p.Trp145Leu						p.W145L	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	4	489	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		145					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.434G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688260	0.68271	.	.	ENSG00000123066	ENST00000281928	T	0.79940	-1.32	5.42	5.42	0.78866	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	M	0.85041	2.73	0.58432	D	0.999998	D	0.69078	0.997	D	0.79108	0.992	D	0.91926	0.5551	10	0.72032	D	0.01	.	17.9924	0.89172	0.0:1.0:0.0:0.0	.	145	Q71F56	MD13L_HUMAN	L	145	ENSP00000281928:W145L	ENSP00000281928:W145L	W	-	2	0	MED13L	115018902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.704000	0.68347	2.549000	0.85964	0.655000	0.94253	TGG		0.388	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			14	44	1	0	9.16793e-09	0.00499	1.16519e-08	14	44				
PEBP1	5037	broad.mit.edu	37	12	118575880	118575880	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:118575880C>G	ENST00000261313.2	+	2	524	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	58						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L58V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATGGTCTTGATTCAGG	0.493																																					NSCLC(44;94 1357 12187 49467)	NSCLC(44;94 1357 12187 49467)	uc001twu.1		NA																	1	Substitution - Missense(1)	p.L58V(1)	ovary(1)	ovary(1)	1						c.(172-174)CTT>GTT	Direct_reversal_of_damage	prostatic binding protein							61.0	52.0	55.0					12																	118575880		2203	4300	6503	SO:0001583	missense	5037						ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	g.chr12:118575880C>G	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.172C>G	12.37:g.118575880C>G	ENSP00000261313:p.Leu58Val					PEBP1_uc010szc.1_Missense_Mutation_p.L58V	p.L58V	NM_002567	NP_002558	P30086	PEBP1_HUMAN			2	317	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		58					B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	c.172C>G	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060517	0.19987	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.30182	1.54	4.53	3.55	0.40652	.	0.288557	0.38326	N	0.001723	T	0.14657	0.0354	N	0.17379	0.485	0.25729	N	0.985288	B;B	0.11235	0.004;0.002	B;B	0.17433	0.018;0.004	T	0.06338	-1.0832	10	0.30078	T	0.28	-10.7185	2.4647	0.04550	0.3027:0.5089:0.0:0.1883	.	58;58	B4DRT4;P30086	.;PEBP1_HUMAN	V	58	ENSP00000261313:L58V	ENSP00000261313:L58V	L	+	1	0	PEBP1	117060263	0.994000	0.37717	0.975000	0.42487	0.690000	0.40134	1.783000	0.38664	2.346000	0.79739	0.655000	0.94253	CTT		0.493	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		3	26	0	0	0	0.004672	0	3	26				
TAOK3	51347	broad.mit.edu	37	12	118610414	118610414	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:118610414A>G	ENST00000392533.3	-	17	2237	c.1747T>C	c.(1747-1749)Tcc>Ccc	p.S583P	TAOK3_ENST00000537952.1_Missense_Mutation_p.S123P|TAOK3_ENST00000419821.2_Missense_Mutation_p.S583P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	583					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATGTTTGGAGATCCGCTCT	0.433																																							uc001twx.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(1747-1749)TCC>CCC		TAO kinase 3							332.0	328.0	329.0					12																	118610414		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118610414A>G	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1747T>C	12.37:g.118610414A>G	ENSP00000376317:p.Ser583Pro					TAOK3_uc001twv.2_Missense_Mutation_p.S123P|TAOK3_uc001tww.2_Missense_Mutation_p.S413P|TAOK3_uc001twy.3_Missense_Mutation_p.S583P	p.S583P	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			17	2042	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		583			Potential.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1747T>C	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	a	16.15	3.042385	0.55003	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.51325	0.71;0.71;0.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.66939	2.045	0.80722	D	1	P	0.35124	0.485	B	0.33568	0.166	T	0.49862	-0.8894	10	0.39692	T	0.17	.	14.2298	0.65885	1.0:0.0:0.0:0.0	.	583	Q9H2K8	TAOK3_HUMAN	P	583;583;123;203	ENSP00000416374:S583P;ENSP00000376317:S583P;ENSP00000443834:S123P	ENSP00000352863:S203P	S	-	1	0	TAOK3	117094797	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.084000	0.94076	2.019000	0.59389	0.529000	0.55759	TCC		0.433	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		39	118	0	0	0	0.011902	0	39	118				
GCN1L1	10985	broad.mit.edu	37	12	120569106	120569106	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:120569106C>T	ENST00000300648.6	-	55	7458	c.7446G>A	c.(7444-7446)cgG>cgA	p.R2482R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2482					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGCCCGTGCCGAACCATCC	0.572																																							uc001txo.2		NA																	0				ovary(4)	4						c.(7444-7446)CGG>CGA		GCN1 general control of amino-acid synthesis							48.0	55.0	53.0					12																	120569106		2054	4205	6259	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120569106C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7446G>A	12.37:g.120569106C>T							p.R2482R	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			55	7459	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2482					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7446G>A	CCDS41847.1																																																																																				0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			3	81	0	0	0	0.000602	0	3	81				
PITPNM2	57605	broad.mit.edu	37	12	123474421	123474421	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:123474421T>G	ENST00000542749.1	-	16	2707	c.2644A>C	c.(2644-2646)Acc>Ccc	p.T882P	PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.T882P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	882	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGGGGTGGTGGGGCTGGGG	0.687																																							uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2644-2646)ACC>CCC		phosphatidylinositol transfer protein,							3.0	4.0	4.0					12																	123474421		1635	3249	4884	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474421T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2644A>C	12.37:g.123474421T>G	ENSP00000437611:p.Thr882Pro					PITPNM2_uc001uek.1_Intron	p.T882P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2783	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		882			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2644A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	11.12	1.544787	0.27563	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44881	1.23;0.91;1.23	5.25	-8.06	0.01102	DDHD (2);	0.739382	0.11123	U	0.597255	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10405	-1.0631	10	0.35671	T	0.21	-6.3214	1.0848	0.01650	0.2899:0.2814:0.0983:0.3304	.	882	Q9BZ72	PITM2_HUMAN	P	882;603;882	ENSP00000322218:T882P;ENSP00000376223:T603P;ENSP00000437611:T882P	ENSP00000322218:T882P	T	-	1	0	PITPNM2	122040374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.305000	0.01133	-1.500000	0.01819	-0.473000	0.04963	ACC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		8	23	0	0	0	0.006214	0	8	23				
SBNO1	55206	broad.mit.edu	37	12	123780484	123780484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:123780484G>A	ENST00000602398.1	-	32	4280	c.4153C>T	c.(4153-4155)Cag>Tag	p.Q1385*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1384*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q1385*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1384*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1385					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTGATGCTCTGAGGGTGATGC	0.443																																							uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4153-4155)CAG>TAG		sno, strawberry notch homolog 1							434.0	391.0	406.0					12																	123780484		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780484G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4153C>T	12.37:g.123780484G>A	ENSP00000473665:p.Gln1385*					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Nonsense_Mutation_p.Q1384*|SBNO1_uc010taq.1_Nonsense_Mutation_p.Q336*	p.Q1385*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4153	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1385					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.4153C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	42	9.163406	0.99085	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.8689	20.2566	0.98424	0.0:0.0:1.0:0.0	.	.	.	.	X	1385;1384	.	ENSP00000267176:Q1384X	Q	-	1	0	SBNO1	122346437	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	9.431000	0.97494	2.793000	0.96121	0.561000	0.74099	CAG		0.443	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		32	227	0	0	0	0.013726	0	32	227				
MMP17	4326	broad.mit.edu	37	12	132325149	132325149	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:132325149G>T	ENST00000360564.1	+	4	556	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	MMP17_ENST00000535291.1_Missense_Mutation_p.G68W	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	152					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G152R(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CTCACCACTGGGGCACGACAC	0.667																																							uc001ujc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GGG>TGG		matrix metalloproteinase 17 preproprotein							90.0	84.0	86.0					12																	132325149		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132325149G>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.454G>T	12.37:g.132325149G>T	ENSP00000353767:p.Gly152Trp					MMP17_uc001ujd.1_Missense_Mutation_p.G68W	p.G152W	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	4	553	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		152					Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.454G>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567071	0.45694	.	.	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000545790;ENST00000535291	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.21	4.21	0.49690	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.125338	0.52532	D	0.000071	T	0.46425	0.1392	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.52646	-0.8548	10	0.87932	D	0	.	16.7261	0.85422	0.0:0.0:1.0:0.0	.	152	Q9ULZ9	MMP17_HUMAN	W	152;48;68;68	ENSP00000353767:G152W;ENSP00000444603:G48W;ENSP00000441710:G68W;ENSP00000441106:G68W	ENSP00000353767:G152W	G	+	1	0	MMP17	130891102	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	6.295000	0.72744	2.169000	0.68431	0.313000	0.20887	GGG		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		29	68	1	0	5.8336e-16	0.003271	9.14936e-16	29	68				
VWA8	23078	broad.mit.edu	37	13	42295619	42295619	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:42295619T>C	ENST00000379310.3	-	25	2919	c.2851A>G	c.(2851-2853)Atc>Gtc	p.I951V	VWA8_ENST00000281496.6_Missense_Mutation_p.I951V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	951						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTCTGAAGGATGGGCTCAGGC	0.468																																							uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2851-2853)ATC>GTC		hypothetical protein LOC23078 isoform a							121.0	125.0	124.0					13																	42295619		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42295619T>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2851A>G	13.37:g.42295619T>C	ENSP00000368612:p.Ile951Val					KIAA0564_uc001uyk.2_Missense_Mutation_p.I951V	p.I951V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	25	2921	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	951					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.2851A>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	6.314	0.426013	0.11987	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.26810	1.71;1.71	5.62	1.99	0.26369	.	0.165937	0.53938	N	0.000053	T	0.08846	0.0219	N	0.03948	-0.315	0.28902	N	0.893192	B	0.02656	0.0	B	0.06405	0.002	T	0.34725	-0.9817	10	0.08599	T	0.76	.	8.4537	0.32886	0.0:0.3829:0.0:0.6171	.	951	A3KMH1	K0564_HUMAN	V	855;951;951	ENSP00000368612:I951V;ENSP00000281496:I951V	ENSP00000251030:I855V	I	-	1	0	KIAA0564	41193619	0.968000	0.33430	1.000000	0.80357	0.992000	0.81027	0.998000	0.29744	0.432000	0.26286	-0.376000	0.06991	ATC		0.468	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		24	37	0	0	0	0.003954	0	24	37				
DGKH	160851	broad.mit.edu	37	13	42742644	42742644	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:42742644G>T	ENST00000337343.4	+	10	1208	c.1187G>T	c.(1186-1188)tGg>tTg	p.W396L	DGKH_ENST00000540693.1_Missense_Mutation_p.W396L|DGKH_ENST00000379274.2_Missense_Mutation_p.W260L|DGKH_ENST00000261491.5_Missense_Mutation_p.W396L|DGKH_ENST00000538674.1_Missense_Mutation_p.W151L|DGKH_ENST00000536612.1_Missense_Mutation_p.W260L|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	396	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGTGTAGGTTGGGTTTTGTCA	0.333																																							uc001uyl.1		NA																	0				ovary(2)	2						c.(1186-1188)TGG>TTG		diacylglycerol kinase, eta isoform 2							113.0	106.0	108.0					13																	42742644		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42742644G>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1187G>T	13.37:g.42742644G>T	ENSP00000337572:p.Trp396Leu					DGKH_uc010tfh.1_Missense_Mutation_p.W396L|DGKH_uc001uym.1_Missense_Mutation_p.W396L|DGKH_uc010tfi.1_Missense_Mutation_p.W151L|DGKH_uc010tfj.1_Missense_Mutation_p.W251L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.W251L|DGKH_uc001uyp.2_RNA	p.W396L	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	10	1208	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	396			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1187G>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194325	0.78902	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.74	5.74	0.90152	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.995;1.0	T	0.44375	-0.9332	10	0.87932	D	0	.	10.6491	0.45638	0.0698:0.0:0.7963:0.1339	.	151;260;396;396	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	396;396;396;260;260;151	ENSP00000440823:W396L;ENSP00000337572:W396L;ENSP00000261491:W396L;ENSP00000368576:W260L;ENSP00000445114:W260L;ENSP00000441308:W151L	ENSP00000261491:W396L	W	+	2	0	DGKH	41640644	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.669000	0.74462	2.717000	0.92951	0.563000	0.77884	TGG		0.333	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		7	16	1	0	0.00010058	0.013537	0.000111133	7	16				
SPERT	220082	broad.mit.edu	37	13	46288187	46288187	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:46288187G>A	ENST00000310521.1	+	3	1107	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	SPERT_ENST00000378966.3_Missense_Mutation_p.A307T	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	343						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)		GGAGGAGGAGGCCAAGGTGGG	0.711																																							uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1027-1029)GCC>ACC		spermatid associated							5.0	5.0	5.0					13																	46288187		2118	4110	6228	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46288187G>A	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.1027G>A	13.37:g.46288187G>A	ENSP00000309189:p.Ala343Thr					SPERT_uc001vao.2_Missense_Mutation_p.A307T	p.A343T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	1107	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	343					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.1027G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	2.419	-0.333549	0.05278	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.42513	0.97;0.97	4.83	-1.45	0.08828	.	1.560810	0.03948	N	0.288047	T	0.25195	0.0612	N	0.14661	0.345	0.09310	N	1	B;B	0.25904	0.137;0.082	B;B	0.25140	0.058;0.058	T	0.17776	-1.0358	10	0.10377	T	0.69	.	10.2054	0.43109	0.6104:0.0:0.3896:0.0	.	307;343	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	T	343;307	ENSP00000309189:A343T;ENSP00000368249:A307T	ENSP00000309189:A343T	A	+	1	0	SPERT	45186188	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-0.264000	0.08658	-0.259000	0.09432	-0.192000	0.12808	GCC		0.711	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		3	4	0	0	0	0.009096	0	3	4				
KPNA3	3839	broad.mit.edu	37	13	50276609	50276609	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:50276609C>T	ENST00000261667.3	-	16	1794	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	460					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTTCAATTTTCTCCAAACCTG	0.279																																							uc001vdj.2		NA																	0					0						c.(1378-1380)GAG>GAA		karyopherin alpha 3							54.0	56.0	55.0					13																	50276609		2187	4274	6461	SO:0001819	synonymous_variant	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50276609C>T	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1380G>A	13.37:g.50276609C>T							p.E460E	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	16	1795	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	460			ARM 10; atypical.		O00191|O43195|Q5JVM9|Q96AA7	Silent	SNP	ENST00000261667.3	37	c.1380G>A	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741159	0.15642	.	.	ENSG00000102753	ENST00000436760	.	.	.	5.6	3.39	0.38822	.	.	.	.	.	T	0.63331	0.2502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62364	-0.6870	4	.	.	.	-1.4117	12.8622	0.57920	0.0:0.8796:0.0:0.1204	.	.	.	.	K	47	.	.	R	-	2	0	KPNA3	49174610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.309000	0.33539	1.277000	0.44412	0.650000	0.86243	AGA		0.279	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		4	12	0	0	0	0.000602	0	4	12				
CKAP2	26586	broad.mit.edu	37	13	53039580	53039580	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:53039580G>A	ENST00000378037.5	+	6	1549	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CKAP2_ENST00000490903.1_Missense_Mutation_p.A438T|CKAP2_ENST00000378034.3_Missense_Mutation_p.A486T|CKAP2_ENST00000258607.5_Missense_Mutation_p.A486T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTATGAGAAAGCCATTCTGGC	0.328																																							uc001vgv.2		NA																	0				ovary(1)|skin(1)	2						c.(1459-1461)GCC>ACC		cytoskeleton associated protein 2 isoform 2							65.0	70.0	68.0					13																	53039580		2203	4298	6501	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53039580G>A	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1459G>A	13.37:g.53039580G>A	ENSP00000367276:p.Ala487Thr					CKAP2_uc001vgt.2_Missense_Mutation_p.A486T|CKAP2_uc001vgu.2_Missense_Mutation_p.A486T|CKAP2_uc010tha.1_Missense_Mutation_p.A438T	p.A487T	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	6	1656	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	487						Missense_Mutation	SNP	ENST00000378037.5	37	c.1459G>A	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	33	5.266235	0.95399	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.63	5.63	0.86233	.	0.073163	0.56097	D	0.000027	T	0.66147	0.2760	M	0.85630	2.765	0.42829	D	0.994017	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.79784	0.993;0.993;0.993;0.913	T	0.70464	-0.4864	10	0.72032	D	0.01	-3.036	18.6031	0.91256	0.0:0.0:1.0:0.0	.	438;487;486;487	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	T	487;486;486;487;438	ENSP00000258607:A486T;ENSP00000367273:A486T;ENSP00000367276:A487T;ENSP00000417830:A438T	ENSP00000258607:A486T	A	+	1	0	CKAP2	51937581	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.285000	0.72658	2.805000	0.96524	0.655000	0.94253	GCC		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			7	25	0	0	0	0.001984	0	7	25				
RNASE12	493901	broad.mit.edu	37	14	21058461	21058461	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:21058461C>G	ENST00000556526.1	-	1	521	c.422G>C	c.(421-423)aGt>aCt	p.S141T	RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000555283.1_Intron|RNASE11_ENST00000555841.1_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	141						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GCCAAGGAAACTATCTGGCCT	0.502																																							uc001vxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(421-423)AGT>ACT		ribonuclease, RNase A family, 12 (non-active)							70.0	71.0	71.0					14																	21058461		2203	4300	6503	SO:0001583	missense	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058461C>G		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.422G>C	14.37:g.21058461C>G	ENSP00000450580:p.Ser141Thr					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.S141T	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	522	-	all_cancers(95;0.00238)		141						Missense_Mutation	SNP	ENST00000556526.1	37	c.422G>C	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	C	2.368	-0.344970	0.05208	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.72505	-0.66;-0.66	4.91	-5.87	0.02297	Ribonuclease A, domain (3);	1.175240	0.06282	N	0.697617	T	0.49795	0.1578	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40384	-0.9566	10	0.56958	D	0.05	-33.7757	7.2917	0.26370	0.0:0.3096:0.4528:0.2376	.	141	Q5GAN4	RNS12_HUMAN	T	141	ENSP00000450580:S141T;ENSP00000372460:S141T	ENSP00000372460:S141T	S	-	2	0	RNASE12;AL163195.1	20128301	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.502000	0.06390	-1.443000	0.01953	-2.896000	0.00094	AGT		0.502	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			15	14	0	0	0	0.003163	0	15	14				
LRRC16B	90668	broad.mit.edu	37	14	24538031	24538031	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:24538031C>A	ENST00000342740.5	+	38	3992	c.3838C>A	c.(3838-3840)Cca>Aca	p.P1280T	LRRC16B_ENST00000334420.7_Missense_Mutation_p.P333T|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000537691.1_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1280						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCCTCCCAAGCCAGTGGCTGT	0.642																																							uc001wlj.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3838-3840)CCA>ACA		leucine rich repeat containing 16B							23.0	24.0	24.0					14																	24538031		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24538031C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3838C>A	14.37:g.24538031C>A	ENSP00000340467:p.Pro1280Thr					LRRC16B_uc001wlk.2_Missense_Mutation_p.P333T|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	p.P1280T	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	38	3995	+			1280					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3838C>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804108	0.70682	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.72835	-0.69;-0.69	4.32	4.32	0.51571	.	0.000000	0.36167	N	0.002749	T	0.72104	0.3419	N	0.19112	0.55	0.38115	D	0.937693	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.77083	-0.2719	10	0.62326	D	0.03	-4.9971	12.1887	0.54254	0.0:1.0:0.0:0.0	.	333;1280	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	T	1280;333	ENSP00000340467:P1280T;ENSP00000334701:P333T	ENSP00000334701:P333T	P	+	1	0	LRRC16B	23607871	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.662000	0.54510	2.250000	0.74265	0.561000	0.74099	CCA		0.642	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		12	13	1	0	1.05317e-09	0.00245	1.38632e-09	12	13				
PRKD1	5587	broad.mit.edu	37	14	30047522	30047522	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:30047522G>A	ENST00000331968.5	-	17	2708	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	PRKD1_ENST00000415220.2_Missense_Mutation_p.R835C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACACTGTAGCGCTTTCTCATT	0.328																																							uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2479-2481)CGC>TGC		protein kinase D1							87.0	85.0	86.0					14																	30047522		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30047522G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2479C>T	14.37:g.30047522G>A	ENSP00000333568:p.Arg827Cys						p.R827C	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	17	2660	-	Hepatocellular(127;0.0604)		827			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2479C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253170	0.80135	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.96885	-4.16;-4.16	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	-22.8557	19.8276	0.96624	0.0:0.0:1.0:0.0	.	827	Q15139	KPCD1_HUMAN	C	827;835	ENSP00000333568:R827C;ENSP00000390535:R835C	ENSP00000333568:R827C	R	-	1	0	PRKD1	29117273	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.239000	0.65371	2.697000	0.92050	0.585000	0.79938	CGC		0.328	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	9	0	0	0	0.001984	0	5	9				
NIN	51199	broad.mit.edu	37	14	51226934	51226934	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:51226934C>G	ENST00000382041.3	-	17	2230	c.2040G>C	c.(2038-2040)caG>caC	p.Q680H	NIN_ENST00000389868.3_Missense_Mutation_p.Q680H|NIN_ENST00000530997.2_Missense_Mutation_p.Q680H|NIN_ENST00000382043.4_Missense_Mutation_p.Q680H|NIN_ENST00000324330.9_Missense_Mutation_p.Q680H|NIN_ENST00000245441.5_Missense_Mutation_p.Q680H|NIN_ENST00000453196.1_Missense_Mutation_p.Q680H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	680					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGCTTGCCCCTGAAGTTCAG	0.458			T	PDGFRB	MPD																																		uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(2038-2040)CAG>CAC		ninein isoform 5							114.0	114.0	114.0					14																	51226934		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51226934C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2040G>C	14.37:g.51226934C>G	ENSP00000371472:p.Gln680His					NIN_uc001wyi.2_Missense_Mutation_p.Q680H|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q680H|NIN_uc010tqp.1_Missense_Mutation_p.Q686H|NIN_uc001wyo.2_Missense_Mutation_p.Q680H	p.Q680H	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			17	2231	-	all_epithelial(31;0.00244)|Breast(41;0.127)		680			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2040G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.01|11.01	1.514199|1.514199	0.27123|0.27123	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.18338	.|3.12;2.22;2.25;2.86;2.86;2.86	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	.|0.249270	.|0.41194	.|D	.|0.000930	T|T	0.35307|0.35307	0.0927|0.0927	M|M	0.64997|0.64997	1.995|1.995	0.31258|0.31258	N|N	0.69325|0.69325	.|D;D;D;P;D	.|0.67145	.|0.987;0.996;0.984;0.938;0.98	.|D;D;P;P;P	.|0.68353	.|0.922;0.957;0.906;0.62;0.804	T|T	0.43147|0.43147	-0.9409|-0.9409	5|10	.|0.66056	.|D	.|0.02	-7.7634|-7.7634	9.9341|9.9341	0.41541|0.41541	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	.|686;680;680;680;680	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	R|H	171|680;663;680;680;686;680;680;680	.|ENSP00000245441:Q680H;ENSP00000374518:Q680H;ENSP00000371474:Q680H;ENSP00000371472:Q680H;ENSP00000324210:Q680H;ENSP00000412391:Q680H	.|ENSP00000245441:Q680H	G|Q	-|-	1|3	0|2	NIN|NIN	50296684|50296684	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	0.815000|0.815000	0.27253|0.27253	1.490000|1.490000	0.48466|0.48466	0.591000|0.591000	0.81541|0.81541	GGG|CAG		0.458	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		31	55	0	0	0	0.013726	0	31	55				
PELI2	57161	broad.mit.edu	37	14	56585389	56585389	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:56585389C>G	ENST00000267460.4	+	1	297	c.11C>G	c.(10-12)cCt>cGt	p.P4R		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	4					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATGTTTTCCCCTGGCCAGGAG	0.726																																							uc001xch.2		NA																	0				ovary(1)	1						c.(10-12)CCT>CGT		pellino 2							17.0	16.0	16.0					14																	56585389		2144	4228	6372	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56585389C>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.11C>G	14.37:g.56585389C>G	ENSP00000267460:p.Pro4Arg						p.P4R	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			1	297	+			4					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.11C>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417534	0.83449	.	.	ENSG00000139946	ENST00000267460	T	0.43688	0.94	3.66	3.66	0.41972	.	0.258114	0.37955	U	0.001875	T	0.39118	0.1066	L	0.58101	1.795	0.44918	D	0.997938	B	0.28324	0.207	B	0.14578	0.011	T	0.47169	-0.9138	10	0.62326	D	0.03	-16.3351	15.1795	0.72945	0.0:1.0:0.0:0.0	.	4	Q9HAT8	PELI2_HUMAN	R	4	ENSP00000267460:P4R	ENSP00000267460:P4R	P	+	2	0	PELI2	55655142	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.838000	0.55828	1.875000	0.54330	0.499000	0.49734	CCT		0.726	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			3	5	0	0	0	0.004672	0	3	5				
SYNE2	23224	broad.mit.edu	37	14	64675542	64675542	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:64675542C>G	ENST00000344113.4	+	101	18480	c.18268C>G	c.(18268-18270)Cta>Gta	p.L6090V	SYNE2_ENST00000555002.1_Missense_Mutation_p.L2724V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2475V|SYNE2_ENST00000554805.1_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.L6090V|SYNE2_ENST00000554584.1_Missense_Mutation_p.L6052V|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000357395.3_Missense_Mutation_p.L2475V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6090					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGACGTCCTACTGCACGA	0.512																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18268-18270)CTA>GTA		spectrin repeat containing, nuclear envelope 2							127.0	100.0	109.0					14																	64675542		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64675542C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18268C>G	14.37:g.64675542C>G	ENSP00000341781:p.Leu6090Val					SYNE2_uc001xgl.2_Missense_Mutation_p.L6090V|SYNE2_uc010apy.2_Missense_Mutation_p.L2475V|SYNE2_uc001xgn.2_Missense_Mutation_p.L1052V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.L60V|SYNE2_uc001xgq.2_Missense_Mutation_p.L455V|SYNE2_uc001xgr.2_5'Flank	p.L6090V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	101	18498	+			6090			Cytoplasmic (Potential).|Spectrin 6.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18268C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413110	0.25465	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.66	4.77	0.60923	.	0.000000	0.38959	N	0.001520	T	0.79191	0.4404	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.997;1.0;0.994	T	0.81756	-0.0787	10	0.72032	D	0.01	.	11.659	0.51334	0.0:0.8579:0.0:0.1421	.	2475;478;6052;6090;6090	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	V	6090;2475;6090;6052;6058;2724;2475;60	ENSP00000350719:L6090V;ENSP00000349969:L2475V;ENSP00000341781:L6090V;ENSP00000452570:L6052V;ENSP00000450831:L2724V;ENSP00000378249:L2475V;ENSP00000452298:L60V	ENSP00000261678:L6058V	L	+	1	2	SYNE2	63745295	1.000000	0.71417	0.946000	0.38457	0.245000	0.25701	4.033000	0.57282	1.402000	0.46780	0.563000	0.77884	CTA		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		31	52	0	0	0	0.003271	0	31	52				
ESRRB	2103	broad.mit.edu	37	14	76906004	76906004	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:76906004G>T	ENST00000509242.1	+	3	406	c.308G>T	c.(307-309)tGc>tTc	p.C103F	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.C103F|ESRRB_ENST00000380887.2_Missense_Mutation_p.C103F|ESRRB_ENST00000556177.1_Missense_Mutation_p.C103F	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	103					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAGCGCCTGTGCCTCGTGTGC	0.617																																							uc001xsq.1		NA																	0				ovary(1)|skin(1)	2						c.(307-309)TGC>TTC		estrogen-related receptor beta							62.0	57.0	59.0					14																	76906004		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76906004G>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.308G>T	14.37:g.76906004G>T	ENSP00000422488:p.Cys103Phe					ESRRB_uc001xsr.2_Missense_Mutation_p.C103F|ESRRB_uc001xso.2_RNA	p.C103F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	375	+			103					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.308G>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577198	0.86645	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.99902	-7.66;-7.66;-7.66;-7.66;-7.66	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99634	4.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.95793	0.8826	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	103;108	Q5F0P7;E7EWD9	.;.	F	108;103;103;103;103	ENSP00000424992:C108F;ENSP00000422488:C103F;ENSP00000451658:C103F;ENSP00000370270:C103F;ENSP00000261532:C103F	ENSP00000261532:C103F	C	+	2	0	ESRRB	75975757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.818000	0.99354	2.377000	0.81083	0.655000	0.94253	TGC		0.617	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			8	23	1	0	1.06961e-07	0.00308	1.30787e-07	8	23				
VASH1	22846	broad.mit.edu	37	14	77242564	77242564	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:77242564G>A	ENST00000167106.4	+	5	1493	c.860G>A	c.(859-861)cGc>cAc	p.R287H	VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554743.1_5'Flank|RP11-488C13.7_ENST00000553758.1_lincRNA|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	287					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CGCCTGGGCCGCGATGACTTC	0.697																																							uc001xst.2		NA																	0					0						c.(859-861)CGC>CAC		vasohibin 1							22.0	26.0	25.0					14																	77242564		2202	4298	6500	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77242564G>A	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.860G>A	14.37:g.77242564G>A	ENSP00000167106:p.Arg287His						p.R287H	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1790	+			287					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.860G>A	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761015	0.69763	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	4.33	0.51752	.	0.232813	0.42172	D	0.000745	T	0.47266	0.1436	L	0.53249	1.67	0.80722	D	1	D	0.54047	0.964	B	0.43082	0.407	T	0.43972	-0.9358	9	0.38643	T	0.18	-5.0102	9.9995	0.41920	0.1544:0.0:0.8456:0.0	.	287	Q7L8A9	VASH1_HUMAN	H	287	.	ENSP00000167106:R287H	R	+	2	0	VASH1	76312317	0.999000	0.42202	0.986000	0.45419	0.790000	0.44656	3.171000	0.50824	1.204000	0.43247	-0.136000	0.14681	CGC		0.697	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		3	20	0	0	0	0.009096	0	3	20				
POMT2	29954	broad.mit.edu	37	14	77772688	77772688	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:77772688T>A	ENST00000261534.4	-	3	632	c.430A>T	c.(430-432)Atg>Ttg	p.M144L	POMT2_ENST00000556880.1_5'UTR	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	144						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACTCCTCTCATTCCCATGTAG	0.488																																							uc001xti.2		NA																	0				ovary(1)	1						c.(430-432)ATG>TTG		protein-O-mannosyltransferase 2							99.0	90.0	93.0					14																	77772688		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77772688T>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.430A>T	14.37:g.77772688T>A	ENSP00000261534:p.Met144Leu					POMT2_uc010asr.2_Missense_Mutation_p.M33L	p.M144L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	3	631	-			144					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.430A>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000743	0.93227	.	.	ENSG00000009830	ENST00000261534;ENST00000554948	D;D	0.84730	-1.89;-1.89	5.97	5.97	0.96955	Glycosyl transferase, family 39 (1);	0.000000	0.85682	D	0.000000	D	0.90858	0.7128	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.89279	0.3610	10	0.30854	T	0.27	-26.4284	16.43	0.83839	0.0:0.0:0.0:1.0	.	144	Q9UKY4	POMT2_HUMAN	L	144;53	ENSP00000261534:M144L;ENSP00000452060:M53L	ENSP00000261534:M144L	M	-	1	0	POMT2	76842441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.879000	0.87236	2.283000	0.76528	0.533000	0.62120	ATG		0.488	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		8	30	0	0	0	0.006214	0	8	30				
TTC7B	145567	broad.mit.edu	37	14	91196419	91196420	+	Splice_Site	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:91196419_91196420CC>AA	ENST00000328459.6	-	5	818_819	c.697_698GG>TT	c.(697-699)GGg>TTg	p.G233L	TTC7B_ENST00000357056.2_Splice_Site_p.G233L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	233										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GATGGCTTACCCATTTTTGAAA	0.386																																							uc001xyp.2		NA																	0				ovary(2)	2						c.(697-699)GGG>TTG		tetratricopeptide repeat domain 7B																																				SO:0001630	splice_region_variant	145567						binding	g.chr14:91196419_91196420CC>AA	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.697_698delinsAA	14.37:g.91196419_91196420delinsAA							p.G233L	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			5	819_820	-		Melanoma(154;0.222)	233			TPR 2.		Q86U24|Q86VT3	Missense_Mutation	DNP	ENST00000328459.6	37	c.697_698GG>TT	CCDS32140.1																																																																																				0.386	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2		Missense_Mutation	24	41	0	0	0	0.004672	0	24	41				
BCL11B	64919	broad.mit.edu	37	14	99642443	99642443	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:99642443G>T	ENST00000357195.3	-	4	739	c.730C>A	c.(730-732)Cac>Aac	p.H244N	BCL11B_ENST00000443726.2_Missense_Mutation_p.H50N|BCL11B_ENST00000345514.2_Missense_Mutation_p.H173N	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	244					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGAAGCCGTGCGTGTTCTGC	0.662			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(730-732)CAC>AAC		B-cell CLL/lymphoma 11B isoform 1							26.0	26.0	26.0					14																	99642443		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642443G>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.730C>A	14.37:g.99642443G>T	ENSP00000349723:p.His244Asn					BCL11B_uc001ygb.2_Missense_Mutation_p.H173N	p.H244N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	997	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	244			C2H2-type 1.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.730C>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225041	0.79576	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.68624	-0.34;-0.12;-0.32	4.68	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000002	T	0.81108	0.4754	M	0.69523	2.12	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.81885	-0.0727	10	0.46703	T	0.11	-17.1143	17.955	0.89065	0.0:0.0:1.0:0.0	.	173;244	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	N	244;173;50	ENSP00000349723:H244N;ENSP00000280435:H173N;ENSP00000387419:H50N	ENSP00000280435:H173N	H	-	1	0	BCL11B	98712196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.681000	0.98653	2.323000	0.78572	0.655000	0.94253	CAC		0.662	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	23	1	0	3.59834e-05	0.001168	4.0718e-05	5	23				
CYFIP1	23191	broad.mit.edu	37	15	22969346	22969346	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:22969346A>T	ENST00000313077.7	+	22	2697	c.2572A>T	c.(2572-2574)Aac>Tac	p.N858Y	CYFIP1_ENST00000560848.1_Missense_Mutation_p.N858Y|CYFIP1_ENST00000435939.2_Missense_Mutation_p.N427Y	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTACTGCTACAACGGCTCTAC	0.637																																							uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2572-2574)AAC>TAC		cytoplasmic FMR1 interacting protein 1 isoform							103.0	93.0	97.0					15																	22969346		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22969346A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2572A>T	15.37:g.22969346A>T	ENSP00000324549:p.Asn858Tyr					CYFIP1_uc001yut.2_Missense_Mutation_p.N858Y|CYFIP1_uc010aya.1_Missense_Mutation_p.N886Y|CYFIP1_uc001yuu.2_Missense_Mutation_p.N427Y|CYFIP1_uc001yuv.2_Missense_Mutation_p.N52Y	p.N858Y	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	22	2676	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	858						Missense_Mutation	SNP	ENST00000313077.7	37	c.2572A>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791821	0.90453	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.25414	1.8;1.8	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.58206	0.2106	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.913;1.0;0.998	T	0.67122	-0.5750	10	0.72032	D	0.01	-25.9018	15.4351	0.75140	1.0:0.0:0.0:0.0	.	886;427;858	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	Y	858;886;427	ENSP00000324549:N858Y;ENSP00000405956:N427Y	ENSP00000324549:N858Y	N	+	1	0	CYFIP1	20520787	1.000000	0.71417	0.991000	0.47740	0.935000	0.57460	9.127000	0.94417	2.059000	0.61396	0.459000	0.35465	AAC		0.637	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		27	65	0	0	0	0.012213	0	27	65				
MEIS2	4212	broad.mit.edu	37	15	37187382	37187382	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:37187382C>A	ENST00000561208.1	-	11	1535	c.1117G>T	c.(1117-1119)Ggt>Tgt	p.G373C	MEIS2_ENST00000397620.2_Missense_Mutation_p.G278C|MEIS2_ENST00000219869.9_Missense_Mutation_p.G227C|MEIS2_ENST00000557796.2_Missense_Mutation_p.G353C|MEIS2_ENST00000382766.2_Missense_Mutation_p.G366C|MEIS2_ENST00000424352.2_Missense_Mutation_p.G373C|MEIS2_ENST00000397624.3_Missense_Mutation_p.G278C|MEIS2_ENST00000559085.1_Missense_Mutation_p.G360C|MEIS2_ENST00000559561.1_Missense_Mutation_p.G366C|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.G366C|MEIS2_ENST00000340545.5_Missense_Mutation_p.G353C|MEIS2_ENST00000338564.5_Missense_Mutation_p.G366C			O14770	MEIS2_HUMAN	Meis homeobox 2	373	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGTTGCTGACCATCCAACACA	0.572																																							uc001zjr.2		NA																	0				ovary(2)	2						c.(1117-1119)GGT>TGT		Meis homeobox 2 isoform c							112.0	103.0	106.0					15																	37187382		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37187382C>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1117G>T	15.37:g.37187382C>A	ENSP00000453793:p.Gly373Cys					MEIS2_uc001zjl.2_Missense_Mutation_p.G360C|MEIS2_uc010ucj.1_Missense_Mutation_p.G353C|MEIS2_uc001zjm.2_Missense_Mutation_p.G278C|MEIS2_uc001zjn.2_Missense_Mutation_p.G227C|MEIS2_uc001zjo.2_Missense_Mutation_p.G373C|MEIS2_uc001zjp.2_Missense_Mutation_p.G366C|MEIS2_uc001zjs.2_Missense_Mutation_p.G366C|MEIS2_uc001zju.2_Missense_Mutation_p.G353C|MEIS2_uc001zjt.2_Missense_Mutation_p.G366C|MEIS2_uc001zjj.2_Missense_Mutation_p.G69C|MEIS2_uc001zjk.2_Missense_Mutation_p.G62C	p.G373C	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	11	2154	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	373					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1117G>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263771	0.59431	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D	0.91237	-2.39;-2.39;-2.41;-2.39;-2.39;-2.41;-2.81	5.77	5.77	0.91146	.	0.156699	0.56097	D	0.000021	D	0.95589	0.8566	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.971;0.987;0.999;0.978;0.995;0.968;0.977;0.971;0.971;0.996	D	0.95424	0.8510	10	0.72032	D	0.01	-6.5192	19.9886	0.97358	0.0:1.0:0.0:0.0	.	353;366;373;366;373;227;278;360;353;69	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98;B7Z6F6;Q6V703	.;.;MEIS2_HUMAN;.;.;.;.;.;.;.	C	373;366;366;373;366;353;360;278;227	ENSP00000341400:G366C;ENSP00000372216:G366C;ENSP00000404185:G373C;ENSP00000391887:G366C;ENSP00000339549:G353C;ENSP00000380745:G278C;ENSP00000219869:G227C	ENSP00000219869:G227C	G	-	1	0	MEIS2	34974674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.735000	0.93741	0.655000	0.94253	GGT		0.572	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		32	93	1	0	2.51541e-25	0.004878	4.34098e-25	32	93				
CAPN3	825	broad.mit.edu	37	15	42676714	42676714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:42676714G>T	ENST00000397163.3	+	2	562	c.343G>T	c.(343-345)Gga>Tga	p.G115*	CAPN3_ENST00000357568.3_Nonsense_Mutation_p.G115*|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Nonsense_Mutation_p.G28*|CAPN3_ENST00000318023.7_Nonsense_Mutation_p.G115*|CAPN3_ENST00000349748.3_Nonsense_Mutation_p.G115*	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	115	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TATCATTGATGGAGCCAACAG	0.428																																							uc001zpn.1		NA																	0				central_nervous_system(1)	1						c.(343-345)GGA>TGA		calpain 3 isoform a							134.0	128.0	130.0					15																	42676714		2203	4299	6502	SO:0001587	stop_gained	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42676714G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.343G>T	15.37:g.42676714G>T	ENSP00000380349:p.Gly115*					CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udf.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udg.1_Nonsense_Mutation_p.G28*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.G115*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.G115*	p.G115*	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	2	649	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	115			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Nonsense_Mutation	SNP	ENST00000397163.3	37	c.343G>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834060	0.97873	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	.	.	.	X	28;115;115;115;115	.	ENSP00000326281:G115X	G	+	1	0	CAPN3	40464006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.591000	0.87537	0.650000	0.86243	GGA		0.428	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			16	37	1	0	3.32936e-07	0.006122	3.99523e-07	16	37				
RASL12	51285	broad.mit.edu	37	15	65357604	65357604	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:65357604G>A	ENST00000220062.4	-	2	387	c.111C>T	c.(109-111)acC>acT	p.T37T	RASL12_ENST00000434605.2_Silent_p.T26T|RASL12_ENST00000421977.3_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	37					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAAACTTCACGGTCAGGGCTG	0.532																																							uc002aoi.1		NA																	0				skin(1)	1						c.(109-111)ACC>ACT		RAS-like, family 12 protein							119.0	94.0	103.0					15																	65357604		2202	4299	6501	SO:0001819	synonymous_variant	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65357604G>A	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.111C>T	15.37:g.65357604G>A						RASL12_uc002aoj.1_Intron|RASL12_uc010uir.1_Silent_p.T26T	p.T37T	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			2	326	-			37					B2RC29|B4DJW2|B4DU82	Silent	SNP	ENST00000220062.4	37	c.111C>T	CCDS10200.1																																																																																				0.532	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		3	15	0	0	0	0.004672	0	3	15				
VWA9	81556	broad.mit.edu	37	15	65899529	65899529	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:65899529C>T	ENST00000395644.4	-	2	525	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	VWA9_ENST00000420799.2_Intron|VWA9_ENST00000313182.2_Missense_Mutation_p.V64I|VWA9_ENST00000569491.1_Intron|VWA9_ENST00000567744.1_Missense_Mutation_p.V100I|VWA9_ENST00000431261.2_Intron|VWA9_ENST00000442903.3_Missense_Mutation_p.V64I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	64	VWFA.																GTGAAGGGGACCATCAACTCC	0.388																																							uc002apd.2		NA																	0				ovary(1)	1						c.(190-192)GTC>ATC		hypothetical protein LOC81556 isoform 2							98.0	85.0	89.0					15																	65899529		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65899529C>T	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.190G>A	15.37:g.65899529C>T	ENSP00000379006:p.Val64Ile					C15orf44_uc010uix.1_Missense_Mutation_p.V100I|C15orf44_uc010uiz.1_Missense_Mutation_p.V64I|C15orf44_uc010uja.1_Intron|C15orf44_uc010ujb.1_Intron|C15orf44_uc002ape.3_Missense_Mutation_p.V64I|C15orf44_uc010uiy.1_Intron|C15orf44_uc010ujc.1_Missense_Mutation_p.V64I	p.V64I	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			2	526	-			64			VWFA.		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.190G>A		.	.	.	.	.	.	.	.	.	.	C	27.0	4.786567	0.90367	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000442903	T;T;T	0.67171	2.6;2.6;-0.25	4.67	4.67	0.58626	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.75777	2.31	0.80722	D	1	P;B;B	0.46512	0.879;0.336;0.166	B;B;B	0.42188	0.379;0.223;0.149	T	0.75414	-0.3326	10	0.51188	T	0.08	-16.8283	18.1864	0.89795	0.0:1.0:0.0:0.0	.	64;100;64	B4DVT3;B4DJL6;Q96SY0	.;.;CO044_HUMAN	I	64	ENSP00000379006:V64I;ENSP00000326379:V64I;ENSP00000396314:V64I	ENSP00000326379:V64I	V	-	1	0	C15orf44	63686582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.580000	0.82523	2.615000	0.88500	0.650000	0.86243	GTC		0.388	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		9	23	0	0	0	0.010729	0	9	23				
CHRNB4	1143	broad.mit.edu	37	15	78921882	78921882	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:78921882G>T	ENST00000261751.3	-	5	876	c.765C>A	c.(763-765)taC>taA	p.Y255*	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	255					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CGGATGGCAGGTAGAAGACGA	0.547																																							uc002bed.1		NA																	0					0						c.(763-765)TAC>TAA		cholinergic receptor, nicotinic, beta 4							287.0	224.0	245.0					15																	78921882		2196	4293	6489	SO:0001587	stop_gained	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921882G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.765C>A	15.37:g.78921882G>T	ENSP00000261751:p.Tyr255*					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Nonsense_Mutation_p.Y73*	p.Y255*	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	877	-			255			Helical; (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Nonsense_Mutation	SNP	ENST00000261751.3	37	c.765C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740255	0.89573	.	.	ENSG00000117971	ENST00000261751	.	.	.	5.57	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.122	0.42627	0.1492:0.0:0.8508:0.0	.	.	.	.	X	255	.	ENSP00000261751:Y255X	Y	-	3	2	CHRNB4	76708937	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.175000	0.58263	2.637000	0.89404	0.655000	0.94253	TAC		0.547	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			26	87	1	0	9.57634e-11	0.00333	1.31071e-10	26	87				
BNC1	646	broad.mit.edu	37	15	83926689	83926689	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:83926689C>A	ENST00000345382.2	-	5	2575	c.2490G>T	c.(2488-2490)ctG>ctT	p.L830L	BNC1_ENST00000569704.1_Silent_p.L823L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	830					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTGGGTAAACCAGACTGCCCA	0.517																																							uc002bjt.1		NA																	0				ovary(3)	3						c.(2488-2490)CTG>CTT		basonuclin 1							123.0	107.0	113.0					15																	83926689		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926689C>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2490G>T	15.37:g.83926689C>A						BNC1_uc010uos.1_Silent_p.L818L	p.L830L	NM_001717	NP_001708	Q01954	BNC1_HUMAN			5	2578	-			830					Q15840	Silent	SNP	ENST00000345382.2	37	c.2490G>T	CCDS10324.1																																																																																				0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		21	73	1	0	1.42536e-11	0.004656	2.00952e-11	21	73				
DNM1P47	100216544	broad.mit.edu	37	15	102291827	102291827	+	RNA	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:102291827G>T	ENST00000561463.1	+	0	593									DNM1 pseudogene 47																		AAACCACCCAGAACCTGGTGG	0.537																																							uc010usj.1		NA																	0					NA						c.(133-135)CAG>CAT		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102291827G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102291827G>T						uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank	p.Q45H							3	194	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.135G>T																																																																																					0.537	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		11	37	1	0	2.32078e-09	0.003163	3.01644e-09	11	37				
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																							uc010usj.1		NA																	2	Substitution - coding silent(2)		kidney(2)		NA						c.(406-408)ACG>ACC		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102292820G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C						uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank	p.T136T							4	467	+									Silent	SNP	ENST00000561463.1	37	c.408G>C																																																																																					0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	21	0	0	0	0.000602	0	3	21				
RAB40C	57799	broad.mit.edu	37	16	640413	640413	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:640413C>T	ENST00000248139.3	+	1	325	c.122C>T	c.(121-123)tCc>tTc	p.S41F	RAB40C_ENST00000538492.1_Missense_Mutation_p.S41F|RAB40C_ENST00000539661.1_Missense_Mutation_p.S41F|RAB40C_ENST00000535977.1_Missense_Mutation_p.S41F	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	41					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCGGCAGAGTCCCCGTACGCC	0.716																																					Melanoma(123;1631 1690 28262 44104 44957)	Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NA																	0					0						c.(121-123)TCC>TTC		RAB40C, member RAS oncogene family							44.0	34.0	37.0					16																	640413		2201	4296	6497	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:640413C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.122C>T	16.37:g.640413C>T	ENSP00000248139:p.Ser41Phe					RAB40C_uc002chq.2_Missense_Mutation_p.S41F	p.S41F	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			1	238	+		Hepatocellular(780;0.0218)	41					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.122C>T	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211508	0.58343	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	3.68	2.69	0.31865	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.77198	0.4095	N	0.17594	0.5	0.58432	D	0.999997	D;P	0.64830	0.994;0.955	D;P	0.71414	0.973;0.888	T	0.78326	-0.2247	10	0.87932	D	0	.	11.8936	0.52644	0.0:0.822:0.178:0.0	.	41;41	Q96S21;Q5PXE8	RB40C_HUMAN;.	F	41	ENSP00000438492:S41F;ENSP00000445050:S41F;ENSP00000438382:S41F;ENSP00000248139:S41F	ENSP00000248139:S41F	S	+	2	0	RAB40C	580414	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.374000	0.66167	0.514000	0.28300	0.298000	0.19748	TCC		0.716	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		4	22	0	0	0	0.009096	0	4	22				
GNG13	51764	broad.mit.edu	37	16	849032	849033	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:849032_849033GG>TT	ENST00000248150.4	-	2	146_147	c.45_46CC>AA	c.(43-48)agCCtc>agAAtc	p.15_16SL>RI		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	15					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				TGGTACTTGAGGCTCTCCACCT	0.624																																							uc002ckh.3		NA																	0					0						c.(43-48)AGCCTC>AGAATC		guanine nucleotide binding protein (G protein),																																				SO:0001583	missense	51764				cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity	g.chr16:849032_849033GG>TT	AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"""G gamma subunit, clone:h2-35"""	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.45_46delinsTT	16.37:g.849032_849033delinsTT	ENSP00000248150:p.S15_L16delinsRI						p.15_16SL>RI	NM_016541	NP_057625	Q9P2W3	GBG13_HUMAN			2	147_148	-		Hepatocellular(780;0.00335)	15_16					B2R5C8|Q52LX0|Q9UJJ3	Missense_Mutation	DNP	ENST00000248150.4	37	c.45_46CC>AA	CCDS10427.1																																																																																				0.624	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109062.3	NM_016541		12	28	0	0	0	0.004672	0	12	28				
MLST8	64223	broad.mit.edu	37	16	2256185	2256185	+	Silent	SNP	C	C	T	rs374945803		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:2256185C>T	ENST00000569417.1	+	2	453	c.99C>T	c.(97-99)atC>atT	p.I33I	MLST8_ENST00000565250.1_Silent_p.I33I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.I33I|MLST8_ENST00000397124.1_Silent_p.I33I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Silent_p.I52I|MLST8_ENST00000301724.10_Silent_p.I33I|MLST8_ENST00000564088.1_Silent_p.I33I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	33					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ACAGCGGCATCTGCACCCGGA	0.697																																							uc002coz.2		NA																	0					0						c.(97-99)ATC>ATT		G protein beta subunit-like		C	,,,	0,4098		0,0,2049	35.0	38.0	37.0		99,99,99,99	4.1	1.0	16		37	1,8375		0,1,4187	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MLST8	NM_001199173.1,NM_001199174.1,NM_001199175.1,NM_022372.4	,,,	0,1,6236	TT,TC,CC		0.0119,0.0,0.0080	,,,	33/327,33/327,33/326,33/327	2256185	1,12473	2049	4188	6237	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256185C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.99C>T	16.37:g.2256185C>T						MLST8_uc002coy.2_Silent_p.I33I|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.I33I|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.I33I|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.I33I|MLST8_uc010uvy.1_Silent_p.I33I|MLST8_uc002cpg.2_Silent_p.I52I|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.I33I	p.I33I	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			2	218	+			33			WD 1.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.99C>T	CCDS10462.2																																																																																				0.697	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		25	51	0	0	0	0.005443	0	25	51				
PPL	5493	broad.mit.edu	37	16	4934221	4934221	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4934221C>T	ENST00000345988.2	-	22	4524	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	PPL_ENST00000590782.2_Missense_Mutation_p.E1477K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1479					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTCTCGAGCTCCCCCTCCAGG	0.657																																							uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4435-4437)GAG>AAG		periplakin							43.0	40.0	41.0					16																	4934221		2194	4283	6477	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934221C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4435G>A	16.37:g.4934221C>T	ENSP00000340510:p.Glu1479Lys						p.E1479K	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4525	-			1479			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4435G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036541	0.54896	.	.	ENSG00000118898	ENST00000345988	T	0.56275	0.47	5.74	5.74	0.90152	.	0.121972	0.53938	D	0.000043	T	0.75860	0.3907	M	0.80746	2.51	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.77819	-0.2446	10	0.72032	D	0.01	.	19.9111	0.97025	0.0:1.0:0.0:0.0	.	1479	O60437	PEPL_HUMAN	K	1479	ENSP00000340510:E1479K	ENSP00000340510:E1479K	E	-	1	0	PPL	4874222	1.000000	0.71417	0.968000	0.41197	0.044000	0.14063	6.024000	0.70857	2.722000	0.93159	0.591000	0.81541	GAG		0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	75	0	0	0	0.000602	0	5	75				
PPL	5493	broad.mit.edu	37	16	4934286	4934286	+	Missense_Mutation	SNP	C	C	T	rs143676756	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4934286C>T	ENST00000345988.2	-	22	4459	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	PPL_ENST00000590782.2_Missense_Mutation_p.R1455Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1457					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGCATGCTCTCGCGCCTGCTG	0.662													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		17066	0.002		0.002	False		,,,				2504	0.0						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4369-4371)CGA>CAA		periplakin		C	GLN/ARG	1,4389		0,1,2194	62.0	60.0	61.0		4370	4.6	1.0	16	dbSNP_134	61	6,8588		0,6,4291	yes	missense	PPL	NM_002705.4	43	0,7,6485	TT,TC,CC		0.0698,0.0228,0.0539	possibly-damaging	1457/1757	4934286	7,12977	2195	4297	6492	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934286C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4370G>A	16.37:g.4934286C>T	ENSP00000340510:p.Arg1457Gln						p.R1457Q	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4460	-			1457			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4370G>A	CCDS10526.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	13.29	2.193956	0.38707	2.28E-4	6.98E-4	ENSG00000118898	ENST00000345988	T	0.40756	1.02	5.74	4.6	0.57074	.	0.066683	0.64402	D	0.000019	T	0.29458	0.0734	L	0.56769	1.78	0.27784	N	0.943058	P	0.50943	0.94	B	0.34242	0.178	T	0.38178	-0.9673	10	0.30854	T	0.27	.	6.6365	0.22885	0.0:0.7505:0.0:0.2495	.	1457	O60437	PEPL_HUMAN	Q	1457	ENSP00000340510:R1457Q	ENSP00000340510:R1457Q	R	-	2	0	PPL	4874287	1.000000	0.71417	0.964000	0.40570	0.712000	0.41017	3.444000	0.52914	2.722000	0.93159	0.591000	0.81541	CGA		0.662	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		11	103	0	0	0	0.001855	0	11	103				
PPL	5493	broad.mit.edu	37	16	4935596	4935596	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4935596C>A	ENST00000345988.2	-	22	3149	c.3060G>T	c.(3058-3060)ctG>ctT	p.L1020L	PPL_ENST00000590782.2_Silent_p.L1018L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1020					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGCCGCCTCAGTGCCTCCA	0.687																																							uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3058-3060)CTG>CTT		periplakin							49.0	54.0	52.0					16																	4935596		2197	4298	6495	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935596C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3060G>T	16.37:g.4935596C>A							p.L1020L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3150	-			1020			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3060G>T	CCDS10526.1																																																																																				0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		26	58	1	0	7.92952e-12	0.003954	1.12408e-11	26	58				
GRIN2A	2903	broad.mit.edu	37	16	10274009	10274009	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:10274009C>A	ENST00000396573.2	-	3	569	c.260G>T	c.(259-261)tGc>tTc	p.C87F	GRIN2A_ENST00000396575.2_Missense_Mutation_p.C87F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.C87F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.C87F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.C87F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	87					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATGAGGTCGCACACGTGCGT	0.657																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(259-261)TGC>TTC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100.0	96.0	98.0					16																	10274009		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274009C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.260G>T	16.37:g.10274009C>A	ENSP00000379818:p.Cys87Phe					GRIN2A_uc010uym.1_Missense_Mutation_p.C87F|GRIN2A_uc002czr.3_Missense_Mutation_p.C87F|GRIN2A_uc010buk.2_Missense_Mutation_p.C87F	p.C87F	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			2	808	-			87			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.260G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788141	0.90367	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	4.54	4.54	0.55810	.	0.111297	0.64402	D	0.000007	D	0.93028	0.7781	M	0.87269	2.87	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	0.94013	0.7286	9	.	.	.	.	16.2901	0.82747	0.0:1.0:0.0:0.0	.	87;87;87	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	F	87	ENSP00000379818:C87F;ENSP00000385872:C87F;ENSP00000332549:C87F;ENSP00000379820:C87F	.	C	-	2	0	GRIN2A	10181510	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.717000	0.84732	2.088000	0.63022	0.561000	0.74099	TGC		0.657	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			27	76	1	0	2.80507e-11	0.012213	3.90139e-11	27	76				
MYH11	4629	broad.mit.edu	37	16	15850236	15850237	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:15850236_15850237CC>AA	ENST00000300036.5	-	14	1819_1820	c.1710_1711GG>TT	c.(1708-1713)aaGGac>aaTTac	p.570_571KD>NY	MYH11_ENST00000452625.2_Missense_Mutation_p.577_578KD>NY|MYH11_ENST00000396324.3_Missense_Mutation_p.577_578KD>NY|MYH11_ENST00000576790.2_Missense_Mutation_p.570_571KD>NY	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	570	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAGTCTTGTCCTTGAGCTGCT	0.594			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1708-1713)AAGGAC>AATTAC		smooth muscle myosin heavy chain 11 isoform																																				SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15850236_15850237CC>AA	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1710_1711delinsAA	16.37:g.15850236_15850237delinsAA	ENSP00000300036:p.K570_D571delinsNY		OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	705	MYH11_uc002ddv.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc002ddw.2_Missense_Mutation_p.570_571KD>NY|MYH11_uc002ddx.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc010bvg.2_Missense_Mutation_p.402_403KD>NY|MYH11_uc002dea.1_Missense_Mutation_p.276_277KD>NY	p.570_571KD>NY	NM_002474	NP_002465	P35749	MYH11_HUMAN			14	1817_1818	-			570_571			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	DNP	ENST00000300036.5	37	c.1710_1711GG>TT	CCDS10565.1																																																																																				0.594	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		10	35	0	0	0	0.004672	0	10	35				
SMG1	23049	broad.mit.edu	37	16	18849510	18849510	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:18849510C>A	ENST00000446231.2	-	45	7651	c.7239G>T	c.(7237-7239)ctG>ctT	p.L2413L	SMG1_ENST00000389467.3_Silent_p.L2413L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2413	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGCCTCCAGCAGCGTCAGCA	0.537																																							uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(7237-7239)CTG>CTT		PI-3-kinase-related kinase SMG-1							37.0	38.0	37.0					16																	18849510		2026	4199	6225	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18849510C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7239G>T	16.37:g.18849510C>A						SMG1_uc010bwb.2_Silent_p.L2273L|SMG1_uc010bwa.2_Silent_p.L1144L	p.L2413L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			45	7602	-			2413			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.7239G>T	CCDS45430.1																																																																																				0.537	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	14	1	0	0.00116845	0.001168	0.00124057	4	14				
TMC7	79905	broad.mit.edu	37	16	19056725	19056725	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:19056725C>G	ENST00000304381.5	+	11	1648	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	TMC7_ENST00000569532.1_Missense_Mutation_p.I506M|TMC7_ENST00000421369.3_Missense_Mutation_p.I396M	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	506					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCATCATCATCTTGGCTGTGA	0.478																																							uc002dfq.2		NA																	0				skin(2)|ovary(1)	3						c.(1516-1518)ATC>ATG		transmembrane channel-like 7 isoform a							158.0	128.0	138.0					16																	19056725		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19056725C>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1518C>G	16.37:g.19056725C>G	ENSP00000304710:p.Ile506Met					TMC7_uc002dfp.2_Missense_Mutation_p.I506M|TMC7_uc010vap.1_Missense_Mutation_p.I396M	p.I506M	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			11	1648	+			506			Helical; (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1518C>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644130	0.29246	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.63744	-0.06;-0.06	5.27	4.11	0.48088	.	0.055480	0.64402	D	0.000001	T	0.47060	0.1425	L	0.27053	0.805	0.37842	D	0.929105	B;B	0.18741	0.03;0.014	B;B	0.25759	0.063;0.063	T	0.49513	-0.8932	10	0.40728	T	0.16	.	8.8811	0.35376	0.0:0.75:0.0:0.25	.	506;506	Q7Z402;B3KSZ3	TMC7_HUMAN;.	M	506;396	ENSP00000304710:I506M;ENSP00000397081:I396M	ENSP00000304710:I506M	I	+	3	3	TMC7	18964226	0.645000	0.27286	1.000000	0.80357	0.992000	0.81027	0.887000	0.28254	2.437000	0.82529	0.555000	0.69702	ATC		0.478	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		9	58	0	0	0	0.010729	0	9	58				
GP2	2813	broad.mit.edu	37	16	20327339	20327339	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:20327339G>C	ENST00000381362.4	-	10	1525	c.1449C>G	c.(1447-1449)cgC>cgG	p.R483R	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Silent_p.R480R|GP2_ENST00000381360.5_Silent_p.R336R|GP2_ENST00000341642.5_Silent_p.R333R	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	483	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTACTTCACTGCGGACTTGAC	0.483																																							uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(1447-1449)CGC>CGG		zymogen granule membrane glycoprotein 2 isoform							116.0	107.0	110.0					16																	20327339		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327339G>C	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1449C>G	16.37:g.20327339G>C						GP2_uc002dgw.2_Silent_p.R480R|GP2_uc002dgx.2_Silent_p.R336R|GP2_uc002dgy.2_Silent_p.R333R	p.R483R	NM_001007240	NP_001007241	P55259	GP2_HUMAN			10	1532	-			483			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.1449C>G	CCDS42128.1																																																																																				0.483	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		24	61	0	0	0	0.005443	0	24	61				
ACSM2A	123876	broad.mit.edu	37	16	20494388	20494388	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:20494388G>A	ENST00000573854.1	+	13	1632	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	ACSM2A_ENST00000417235.2_Silent_p.K427K|ACSM2A_ENST00000219054.6_Silent_p.K506K|ACSM2A_ENST00000575690.1_Silent_p.K506K|ACSM2A_ENST00000536134.1_Silent_p.K278K|ACSM2A_ENST00000396104.2_Silent_p.K506K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	506					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGGTGGTGAAGGCATTTGTGG	0.498																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1516-1518)AAG>AAA		acyl-CoA synthetase medium-chain family member							201.0	181.0	188.0					16																	20494388		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494388G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1518G>A	16.37:g.20494388G>A						ACSM2A_uc002dhf.3_Silent_p.K506K|ACSM2A_uc002dhg.3_Silent_p.K506K|ACSM2A_uc010vay.1_Silent_p.K427K|ACSM2A_uc002dhh.3_Silent_p.K136K	p.K506K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1757	+			506					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1518G>A	CCDS32401.1																																																																																				0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		41	93	0	0	0	0.013114	0	41	93				
GTF3C1	2975	broad.mit.edu	37	16	27473778	27473778	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:27473778C>A	ENST00000356183.4	-	36	5969	c.5954G>T	c.(5953-5955)cGg>cTg	p.R1985L	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1960L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1985					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACGCCACGGCCGGCCGATGAA	0.612																																							uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5953-5955)CGG>CTG		general transcription factor IIIC, polypeptide							82.0	48.0	60.0					16																	27473778		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27473778C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5954G>T	16.37:g.27473778C>A	ENSP00000348510:p.Arg1985Leu					GTF3C1_uc002dou.2_Missense_Mutation_p.R1960L	p.R1985L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			36	5994	-			1985					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5954G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	c	15.96	2.986444	0.53934	.	.	ENSG00000077235	ENST00000356183	T	0.29655	1.56	4.83	3.87	0.44632	.	0.069003	0.53938	D	0.000046	T	0.55305	0.1912	M	0.77616	2.38	0.42822	D	0.993997	D;D	0.89917	0.999;1.0	D;D	0.87578	0.988;0.998	T	0.60845	-0.7182	10	0.66056	D	0.02	-15.4199	13.0567	0.58984	0.0:0.8381:0.1619:0.0	.	1985;1960	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1985	ENSP00000348510:R1985L	ENSP00000348510:R1985L	R	-	2	0	GTF3C1	27381279	1.000000	0.71417	0.989000	0.46669	0.074000	0.17049	7.454000	0.80714	1.023000	0.39654	-0.552000	0.04208	CGG		0.612	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		7	26	1	0	0.000157383	0.00308	0.000172787	7	26				
MAPK3	5595	broad.mit.edu	37	16	30129733	30129733	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:30129733G>A	ENST00000263025.4	-	3	564	c.480C>T	c.(478-480)gcC>gcT	p.A160A	MAPK3_ENST00000403394.1_Silent_p.A160A|MAPK3_ENST00000395202.1_Silent_p.A160A|MAPK3_ENST00000395200.1_Silent_p.A131A|MAPK3_ENST00000322266.5_Silent_p.A160A|MAPK3_ENST00000395199.3_Silent_p.A160A|MAPK3_ENST00000484663.1_Silent_p.A46A|MAPK3_ENST00000494643.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GGAGCACGTTGGCGGAGTGGA	0.567																																							uc002dws.2		NA																	0					0						c.(478-480)GCC>GCT		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						145.0	117.0	127.0					16																	30129733		2197	4300	6497	SO:0001819	synonymous_variant	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30129733G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.480C>T	16.37:g.30129733G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Silent_p.A46A|MAPK3_uc002dwv.3_Silent_p.A160A|MAPK3_uc002dwt.2_Silent_p.A160A|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.A160A	NM_002746	NP_002737	P27361	MK03_HUMAN			3	580	-			160			Protein kinase.		A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	ENST00000263025.4	37	c.480C>T	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	8.128	0.782510	0.16189	.	.	ENSG00000102882	ENST00000495629;ENST00000481230	.	.	.	5.69	4.74	0.60224	.	.	.	.	.	T	0.72890	0.3517	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70952	-0.4732	4	.	.	.	0.042	16.7389	0.85454	0.0702:0.0:0.9298:0.0	.	.	.	.	L	121;114	.	.	P	-	2	0	MAPK3	30037234	1.000000	0.71417	0.993000	0.49108	0.717000	0.41224	4.217000	0.58547	0.774000	0.33427	-1.119000	0.02030	CCA		0.567	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			4	82	0	0	0	0.000602	0	4	82				
ITGAL	3683	broad.mit.edu	37	16	30528393	30528393	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:30528393T>A	ENST00000356798.6	+	26	3142	c.2962T>A	c.(2962-2964)Tgg>Agg	p.W988R	ITGAL_ENST00000358164.5_Missense_Mutation_p.W904R|ITGAL_ENST00000433423.2_Missense_Mutation_p.W222R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	988					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACACACCAGTGGAGCGTGCA	0.627																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2962-2964)TGG>AGG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						94.0	94.0	94.0					16																	30528393		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30528393T>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2962T>A	16.37:g.30528393T>A	ENSP00000349252:p.Trp988Arg					ITGAL_uc002dyj.3_Missense_Mutation_p.W904R|ITGAL_uc010vev.1_Missense_Mutation_p.W222R	p.W988R	NM_002209	NP_002200	P20701	ITAL_HUMAN			26	3138	+			988			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2962T>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852525	0.71719	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.42900	0.96;0.96;0.96	4.67	4.67	0.58626	Integrin alpha-2 (1);	0.000000	0.49916	D	0.000128	T	0.59998	0.2235	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57974	-0.7718	10	0.25106	T	0.35	.	10.6833	0.45828	0.0:0.0:0.0:1.0	.	222;904;988	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	R	988;904;222	ENSP00000349252:W988R;ENSP00000350886:W904R;ENSP00000409377:W222R	ENSP00000349252:W988R	W	+	1	0	ITGAL	30435894	0.963000	0.33076	0.676000	0.29932	0.597000	0.36814	1.731000	0.38135	2.080000	0.62538	0.455000	0.32223	TGG		0.627	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			31	77	0	0	0	0.008361	0	31	77				
ZNF423	23090	broad.mit.edu	37	16	49670231	49670231	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:49670231C>A	ENST00000561648.1	-	4	2885	c.2832G>T	c.(2830-2832)ggG>ggT	p.G944G	ZNF423_ENST00000562871.1_Silent_p.G884G|ZNF423_ENST00000567169.1_Silent_p.G827G|ZNF423_ENST00000535559.1_Silent_p.G827G|ZNF423_ENST00000563137.2_Silent_p.G884G|ZNF423_ENST00000262383.2_Silent_p.G944G|ZNF423_ENST00000562520.1_Silent_p.G884G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	944					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCCCGTAGCCCGTTCTCCG	0.592																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2830-2832)GGG>GGT		zinc finger protein 423							71.0	56.0	61.0					16																	49670231		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670231C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2832G>T	16.37:g.49670231C>A						ZNF423_uc010vgn.1_Silent_p.G827G	p.G944G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3130	-		all_cancers(37;0.0155)	944			C2H2-type 22.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.2832G>T	CCDS32445.1																																																																																				0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		18	41	1	0	0.00188189	0.012319	0.00199395	18	41				
ADCY7	113	broad.mit.edu	37	16	50339437	50339437	+	Missense_Mutation	SNP	C	C	T	rs142217351		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:50339437C>T	ENST00000394697.2	+	13	1959	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	ADCY7_ENST00000566433.2_Missense_Mutation_p.S540L|ADCY7_ENST00000538642.1_Missense_Mutation_p.S540L|ADCY7_ENST00000254235.3_Missense_Mutation_p.S540L|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	540					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		AAGGGGCGGTCGGAGGATGAC	0.597																																							uc002egd.1		NA																	0				skin(1)	1						c.(1618-1620)TCG>TTG		adenylate cyclase 7	Bromocriptine(DB01200)	C	LEU/SER	0,4396		0,0,2198	184.0	172.0	176.0		1619	3.6	0.2	16	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY7	NM_001114.3	145	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	540/1081	50339437	1,12995	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339437C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1619C>T	16.37:g.50339437C>T	ENSP00000378187:p.Ser540Leu					ADCY7_uc002egc.1_Missense_Mutation_p.S540L	p.S540L	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	1887	+		all_cancers(37;0.0127)	540			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1619C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223935	0.09863	0.0	1.16E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.75704	0.82;-0.96;-0.96	5.57	3.62	0.41486	.	1.093900	0.07315	N	0.876653	T	0.56016	0.1957	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.42275	-0.9461	10	0.23891	T	0.37	.	7.0231	0.24924	0.0:0.7041:0.0:0.2959	.	540;540	P51828;F5H4D1	ADCY7_HUMAN;.	L	540	ENSP00000445046:S540L;ENSP00000378187:S540L;ENSP00000254235:S540L	ENSP00000254235:S540L	S	+	2	0	ADCY7	48896938	0.033000	0.19621	0.203000	0.23512	0.377000	0.30045	1.409000	0.34680	0.693000	0.31634	-0.324000	0.08512	TCG		0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			19	172	0	0	0	0.010504	0	19	172				
FTO	79068	broad.mit.edu	37	16	53878094	53878094	+	Missense_Mutation	SNP	C	C	G	rs76762929		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:53878094C>G	ENST00000471389.1	+	4	1001	c.779C>G	c.(778-780)tCt>tGt	p.S260C	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	260	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.S260F(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGGATGACTCTCATCTCGAA	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13456	0.0		0.0	False		,,,				2504	0.0						uc002ehr.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(778-780)TCT>TGT		fat mass and obesity associated							146.0	134.0	138.0					16																	53878094		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53878094C>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.779C>G	16.37:g.53878094C>G	ENSP00000418823:p.Ser260Cys					FTO_uc010vha.1_5'UTR	p.S260C	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			4	1001	+			260			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.779C>G	CCDS32448.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.84	3.234971	0.58886	.	.	ENSG00000140718	ENST00000471389	T	0.65732	-0.17	5.81	3.21	0.36854	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.940200	0.09129	N	0.844670	T	0.50120	0.1597	N	0.22421	0.69	0.18873	N	0.999984	P	0.43938	0.822	P	0.46850	0.529	T	0.41752	-0.9491	10	0.41790	T	0.15	-5.409	3.4838	0.07611	0.3185:0.4738:0.1222:0.0855	.	260	Q9C0B1	FTO_HUMAN	C	260	ENSP00000418823:S260C	ENSP00000418823:S260C	S	+	2	0	FTO	52435595	0.000000	0.05858	0.013000	0.15412	0.503000	0.33858	0.612000	0.24283	2.756000	0.94617	0.655000	0.94253	TCT		0.408	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		4	36	0	0	0	0.001168	0	4	36				
HYDIN	54768	broad.mit.edu	37	16	71007821	71007821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71007821C>A	ENST00000393567.2	-	34	5290	c.5140G>T	c.(5140-5142)Gga>Tga	p.G1714*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1714					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCACTGTCCACACTGAATT	0.488																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(5137-5139)GGA>TGA		hydrocephalus inducing isoform a							153.0	150.0	151.0					16																	71007821		1985	4179	6164	SO:0001587	stop_gained	54768							g.chr16:71007821C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5140G>T	16.37:g.71007821C>A	ENSP00000377197:p.Gly1714*						p.G1713*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			34	5265	-		Ovarian(137;0.0654)	1714					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.5137G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	48	14.586070	0.99801	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.82	4.82	0.62117	.	0.000000	0.32687	U	0.005766	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8574	0.88769	0.0:1.0:0.0:0.0	.	.	.	.	X	1714;1713	.	ENSP00000310485:G5X	G	-	1	0	HYDIN	69565322	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.207000	0.77899	2.387000	0.81309	0.505000	0.49811	GGA		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			28	88	1	0	2.42023e-17	0.003271	3.89047e-17	28	88				
HYDIN	54768	broad.mit.edu	37	16	71098635	71098635	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71098635G>A	ENST00000393567.2	-	16	2334	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	HYDIN_ENST00000538248.1_Silent_p.L755L|HYDIN_ENST00000448691.1_Silent_p.L728L|HYDIN_ENST00000448089.2_Silent_p.L728L|HYDIN_ENST00000541601.1_Silent_p.L745L|HYDIN_ENST00000321489.5_Silent_p.L728L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	728					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAATCCTGGGAGGTCATCTT	0.468																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(2182-2184)CTC>CTT		hydrocephalus inducing isoform a							78.0	71.0	74.0					16																	71098635		2198	4300	6498	SO:0001819	synonymous_variant	54768							g.chr16:71098635G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2184C>T	16.37:g.71098635G>A						HYDIN_uc010cfz.1_Silent_p.L473L|HYDIN_uc002ezv.2_Silent_p.L728L|HYDIN_uc010vmc.1_Silent_p.L745L|HYDIN_uc010vmd.1_Silent_p.L755L	p.L728L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			16	2312	-		Ovarian(137;0.0654)	728					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.2184C>T	CCDS59269.1																																																																																				0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	22	0	0	0	0.006214	0	6	22				
CALB2	794	broad.mit.edu	37	16	71417284	71417284	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71417284C>A	ENST00000302628.4	+	6	491	c.414C>A	c.(412-414)gaC>gaA	p.D138E	CALB2_ENST00000349553.5_Missense_Mutation_p.D138E	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	138	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCCTGTCAGACCTGCTGAAGA	0.522																																							uc002faa.3		NA																	0					0						c.(412-414)GAC>GAA		calbindin 2 isoform 1							110.0	87.0	95.0					16																	71417284		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71417284C>A	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.414C>A	16.37:g.71417284C>A	ENSP00000307508:p.Asp138Glu					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.D138E	p.D138E	NM_001740	NP_001731	P22676	CALB2_HUMAN			6	484	+		Ovarian(137;0.125)	138			EF-hand 3.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.414C>A	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	c	16.57	3.161089	0.57368	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.70399	-0.48;-0.48	5.6	1.5	0.22942	EF-hand-like domain (1);	0.046072	0.85682	D	0.000000	T	0.70954	0.3283	L	0.39147	1.195	0.43360	D	0.995433	P;B	0.43885	0.82;0.111	P;B	0.54965	0.765;0.274	T	0.69960	-0.5003	10	0.72032	D	0.01	-34.1897	9.7248	0.40324	0.0:0.6636:0.0:0.3364	.	138;138	A6NER6;P22676	.;CALB2_HUMAN	E	138	ENSP00000340294:D138E;ENSP00000307508:D138E	ENSP00000307508:D138E	D	+	3	2	CALB2	69974785	1.000000	0.71417	0.991000	0.47740	0.608000	0.37181	0.828000	0.27435	0.321000	0.23259	-0.219000	0.12488	GAC		0.522	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		7	29	1	0	1.06961e-07	0.00308	1.30787e-07	7	29				
ADAMTS18	170692	broad.mit.edu	37	16	77325218	77325218	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:77325218G>T	ENST00000282849.5	-	21	3765	c.3347C>A	c.(3346-3348)cCa>cAa	p.P1116Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1116	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGATGGGCTGGGCAAGCCCG	0.512																																							uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3346-3348)CCA>CAA		ADAM metallopeptidase with thrombospondin type 1							129.0	125.0	126.0					16																	77325218		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325218G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3347C>A	16.37:g.77325218G>T	ENSP00000282849:p.Pro1116Gln						p.P1116Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3766	-			1116			TSP type-1 4.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3347C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149945	0.57151	.	.	ENSG00000140873	ENST00000282849	T	0.61274	0.12	5.8	5.8	0.92144	.	0.056353	0.64402	D	0.000001	T	0.81837	0.4907	M	0.91768	3.24	0.51482	D	0.999927	D	0.67145	0.996	D	0.75020	0.985	D	0.85052	0.0929	10	0.72032	D	0.01	.	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1116	Q8TE60	ATS18_HUMAN	Q	1116	ENSP00000282849:P1116Q	ENSP00000282849:P1116Q	P	-	2	0	ADAMTS18	75882719	1.000000	0.71417	0.848000	0.33437	0.070000	0.16714	5.451000	0.66632	2.758000	0.94735	0.563000	0.77884	CCA		0.512	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			30	75	1	0	8.88839e-20	0.010818	1.47e-19	30	75				
MVD	4597	broad.mit.edu	37	16	88723851	88723851	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:88723851G>A	ENST00000301012.3	-	4	425	c.396C>T	c.(394-396)gcC>gcT	p.A132A	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	132					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACCTAGGCAGGCATAGCCCG	0.692																																							uc002flg.1		NA																	0					0						c.(394-396)GCC>GCT		diphosphomevalonate decarboxylase							17.0	15.0	16.0					16																	88723851		2186	4291	6477	SO:0001819	synonymous_variant	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88723851G>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.396C>T	16.37:g.88723851G>A						MVD_uc002flf.1_5'Flank	p.A132A	NM_002461	NP_002452	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	4	403	-			132					Q53Y65	Silent	SNP	ENST00000301012.3	37	c.396C>T	CCDS10968.1																																																																																				0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		7	10	0	0	0	0.00308	0	7	10				
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:7579310A>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site	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						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.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGCAACTGACCGTGCAAGT	0.532		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)	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		17	Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.0?(7)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	bone(4)|large_intestine(2)|central_nervous_system(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CI073782	TP53	I		c.e4+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	61.0	62.0					17																	7579310		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7579310A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1T>A	17.37:g.7579310A>T		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_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	p.T125_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880010	0.72294	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.734	0.51755	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520035	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.389000	0.79806	1.946000	0.56461	0.533000	0.62120	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	5	50	0	0	0	0.001984	0	5	50				
ALOX12B	242	broad.mit.edu	37	17	7984442	7984442	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:7984442G>T	ENST00000319144.4	-	3	676	c.416C>A	c.(415-417)gCc>gAc	p.A139D	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	139	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GTCCTGCTTGGCTCTGATCTC	0.632										Multiple Myeloma(8;0.094)																													uc002gjy.1		NA																	0					0						c.(415-417)GCC>GAC		arachidonate 12-lipoxygenase, 12R type							79.0	64.0	69.0					17																	7984442		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984442G>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.416C>A	17.37:g.7984442G>T	ENSP00000315167:p.Ala139Asp	Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.A139D	NM_001139	NP_001130	O75342	LX12B_HUMAN			3	677	-			139			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.416C>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583339	0.46006	.	.	ENSG00000179477	ENST00000319144	D	0.90261	-2.64	4.13	4.13	0.48395	Lipoxygenase, C-terminal (2);	0.556047	0.20638	N	0.088457	D	0.86997	0.6068	L	0.55481	1.735	0.33815	D	0.628309	B	0.18461	0.028	B	0.21708	0.036	D	0.86923	0.2068	10	0.41790	T	0.15	-26.8267	9.5386	0.39237	0.0:0.0:0.79:0.21	.	139	O75342	LX12B_HUMAN	D	139	ENSP00000315167:A139D	ENSP00000315167:A139D	A	-	2	0	ALOX12B	7925167	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.366000	0.44204	2.312000	0.78011	0.456000	0.33151	GCC		0.632	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			16	26	1	0	3.5997e-14	0.014323	5.43113e-14	16	26				
ZNF18	7566	broad.mit.edu	37	17	11881681	11881681	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:11881681T>A	ENST00000322748.3	-	9	1847	c.1243A>T	c.(1243-1245)Aag>Tag	p.K415*	ZNF18_ENST00000454073.3_Nonsense_Mutation_p.K414*|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Nonsense_Mutation_p.K415*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	415					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TAAAAGGTCTTCCCACACTCC	0.517																																							uc002gng.1		NA																	0				central_nervous_system(1)	1						c.(1243-1245)AAG>TAG		zinc finger protein 18							69.0	78.0	75.0					17																	11881681		2203	4300	6503	SO:0001587	stop_gained	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881681T>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1243A>T	17.37:g.11881681T>A	ENSP00000315664:p.Lys415*					ZNF18_uc002gnh.1_Nonsense_Mutation_p.K415*|ZNF18_uc002gni.1_Nonsense_Mutation_p.K414*	p.K415*	NM_144680	NP_653281	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	1848	-			415			C2H2-type 1.		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	ENST00000322748.3	37	c.1243A>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	T	38	6.647523	0.97730	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.31	5.31	0.75309	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6808	13.2625	0.60113	0.0:0.0:0.0:1.0	.	.	.	.	X	415	.	ENSP00000315664:K415X	K	-	1	0	ZNF18	11822406	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.067000	0.57527	2.230000	0.72887	0.455000	0.32223	AAG		0.517	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		27	31	0	0	0	0.008361	0	27	31				
UTP6	55813	broad.mit.edu	37	17	30228589	30228589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:30228589C>A	ENST00000261708.4	-	1	195	c.58G>T	c.(58-60)Gag>Tag	p.E20*	UTP6_ENST00000490218.2_5'Flank	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	20					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCAATGCGCTCCAGCTGTTCC	0.572																																							uc002hgr.2		NA																	0				ovary(1)	1						c.(58-60)GAG>TAG		hepatocellular carcinoma-associated antigen 66							107.0	102.0	104.0					17																	30228589		2203	4300	6503	SO:0001587	stop_gained	55813				rRNA processing	nucleolus	binding	g.chr17:30228589C>A	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.58G>T	17.37:g.30228589C>A	ENSP00000261708:p.Glu20*					UTP6_uc010cst.2_5'UTR|UTP6_uc010wbw.1_Nonsense_Mutation_p.E20*	p.E20*	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN			1	141	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	20					Q8IX96|Q96BL2|Q9NQ91	Nonsense_Mutation	SNP	ENST00000261708.4	37	c.58G>T	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	38	7.087312	0.98055	.	.	ENSG00000108651	ENST00000261708	.	.	.	4.53	4.53	0.55603	.	0.094663	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.997	15.5526	0.76164	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000261708:E20X	E	-	1	0	UTP6	27252702	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.029000	0.64121	2.490000	0.84030	0.650000	0.86243	GAG		0.572	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		21	53	1	0	6.36457e-07	0.003954	7.58457e-07	21	53				
RFFL	117584	broad.mit.edu	37	17	33353469	33353469	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:33353469C>A	ENST00000315249.7	-	2	326	c.104G>T	c.(103-105)aGc>aTc	p.S35I	RFFL_ENST00000447669.2_Missense_Mutation_p.S35I|RFFL_ENST00000394597.2_Missense_Mutation_p.S35I|RFFL_ENST00000378516.2_Missense_Mutation_p.S35I|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.S35I|RFFL_ENST00000413582.2_Missense_Mutation_p.S35I|RFFL_ENST00000268850.7_Missense_Mutation_p.S35I|RFFL_ENST00000415395.2_Missense_Mutation_p.S35I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGGAAGGAGCTGTACCCAGG	0.602																																							uc002hin.1		NA																	0					0						c.(103-105)AGC>ATC		rififylin							87.0	65.0	72.0					17																	33353469		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33353469C>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.104G>T	17.37:g.33353469C>A	ENSP00000326170:p.Ser35Ile					RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.S35I|RFFL_uc010cti.1_Missense_Mutation_p.S41I|RFFL_uc002hip.1_Missense_Mutation_p.S35I|RFFL_uc002hio.1_Missense_Mutation_p.S35I	p.S35I	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	2	277	-		Ovarian(249;0.17)	35						Missense_Mutation	SNP	ENST00000315249.7	37	c.104G>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452586	0.84209	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419;ENST00000447669	T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.44;-0.96	5.21	5.21	0.72293	Zinc finger, FYVE/PHD-type (1);	0.080740	0.85682	D	0.000000	D	0.83936	0.5362	L	0.56199	1.76	0.58432	D	0.999995	D;D;D;D	0.76494	0.999;0.999;0.991;0.999	D;D;P;D	0.83275	0.996;0.996;0.757;0.996	D	0.84944	0.0867	10	0.72032	D	0.01	-19.3402	17.92	0.88963	0.0:1.0:0.0:0.0	.	35;35;35;35	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	I	35	ENSP00000326170:S35I;ENSP00000378096:S35I;ENSP00000367777:S35I;ENSP00000268850:S35I;ENSP00000408513:S35I;ENSP00000412322:S35I;ENSP00000395090:S35I;ENSP00000389832:S35I	ENSP00000268850:S35I	S	-	2	0	RFFL	30377582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.806000	0.47947	2.711000	0.92665	0.650000	0.86243	AGC		0.602	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		9	30	1	0	0.000274275	0.004482	0.000299843	9	30				
HEATR9	256957	broad.mit.edu	37	17	34191520	34191520	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:34191520T>G	ENST00000311880.2	-	5	639	c.491A>C	c.(490-492)gAg>gCg	p.E164A	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.E124A	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		164					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATAGAACTGCTCATCCTCTCT	0.473																																							uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.(490-492)GAG>GCG		hypothetical protein LOC256957							125.0	118.0	120.0					17																	34191520		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34191520T>G																												ENST00000311880.2:c.491A>C	17.37:g.34191520T>G	ENSP00000309560:p.Glu164Ala					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.E124A|C17orf66_uc010wcm.1_Missense_Mutation_p.E130A	p.E164A	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	5	640	-		Ovarian(249;0.17)	164					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.491A>C	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820272	0.71028	.	.	ENSG00000172653	ENST00000311880	T	0.48836	0.8	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47852	D	0.000206	T	0.52597	0.1744	L	0.36672	1.1	0.33817	D	0.628548	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.53683	-0.8404	10	0.08381	T	0.77	.	11.3208	0.49421	0.0:0.0:0.0:1.0	.	130;124;164	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	A	164	ENSP00000309560:E164A	ENSP00000309560:E164A	E	-	2	0	C17orf66	31215633	0.984000	0.35163	0.998000	0.56505	0.984000	0.73092	3.432000	0.52824	2.163000	0.67991	0.533000	0.62120	GAG		0.473	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			4	84	0	0	0	0.001168	0	4	84				
IKZF3	22806	broad.mit.edu	37	17	37922523	37922523	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:37922523C>G	ENST00000346872.3	-	8	1111	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000439016.2_Missense_Mutation_p.E255D|IKZF3_ENST00000377952.2_Missense_Mutation_p.E129D|IKZF3_ENST00000377945.3_Missense_Mutation_p.E216D|IKZF3_ENST00000377944.3_Missense_Mutation_p.E207D|IKZF3_ENST00000467757.1_Missense_Mutation_p.E294D|IKZF3_ENST00000351680.3_Missense_Mutation_p.E311D|IKZF3_ENST00000394189.2_Missense_Mutation_p.E168D|IKZF3_ENST00000350532.3_Missense_Mutation_p.E311D|IKZF3_ENST00000377958.2_Missense_Mutation_p.E263D|IKZF3_ENST00000439167.2_Missense_Mutation_p.E277D|IKZF3_ENST00000346243.3_Missense_Mutation_p.E272D|IKZF3_ENST00000535189.1_Missense_Mutation_p.E316D|IKZF3_ENST00000583368.1_Missense_Mutation_p.E103D	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	350					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTTTGACATCTCAGCCCGGG	0.582																																							uc002hsu.2		NA																	0				lung(2)|kidney(2)|skin(2)	6						c.(1048-1050)GAG>GAC		aiolos isoform 1							106.0	97.0	100.0					17																	37922523		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922523C>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1050G>C	17.37:g.37922523C>G	ENSP00000344544:p.Glu350Asp					IKZF3_uc002htd.2_Missense_Mutation_p.E316D|IKZF3_uc010cwd.2_Missense_Mutation_p.E207D|IKZF3_uc002hsv.2_Missense_Mutation_p.E277D|IKZF3_uc010cwe.2_Missense_Mutation_p.E216D|IKZF3_uc010cwf.2_Missense_Mutation_p.E168D|IKZF3_uc010cwg.2_Missense_Mutation_p.E129D|IKZF3_uc002hsw.2_Missense_Mutation_p.E311D|IKZF3_uc002hsx.2_Missense_Mutation_p.E294D|IKZF3_uc002hsy.2_Missense_Mutation_p.E311D|IKZF3_uc002hsz.2_Missense_Mutation_p.E255D|IKZF3_uc002hta.2_Missense_Mutation_p.E272D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E263D|IKZF3_uc002htc.2_Missense_Mutation_p.E103D|IKZF3_uc010wel.1_Missense_Mutation_p.E103D	p.E350D	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1112	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		350					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1050G>C	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.31|12.31	1.898609|1.898609	0.33535|0.33535	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.09538|.	3.38;3.43;3.17;2.97;3.61;3.23;3.29;3.29;3.2;4.26|.	5.91|5.91	1.54|1.54	0.23209|0.23209	.|.	0.098061|.	0.44688|.	N|.	0.000438|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.20610|0.20610	0.595|0.595	0.25699|0.25699	N|N	0.985603|0.985603	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.18013|.	0.013;0.001;0.003;0.001;0.025;0.0;0.004;0.001;0.001;0.0;0.008;0.001;0.0|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.18871|.	0.016;0.006;0.005;0.006;0.023;0.007;0.01;0.004;0.003;0.003;0.01;0.005;0.002|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.13108|.	T|.	0.6|.	-12.9544|-12.9544	1.9875|1.9875	0.03439|0.03439	0.1269:0.4482:0.1309:0.294|0.1269:0.4482:0.1309:0.294	.|.	263;129;168;216;207;316;272;255;311;294;311;277;350|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	D|T	350;255;216;168;207;263;129;316;311;272;311;294|265;304	ENSP00000367180:E216D;ENSP00000377741:E168D;ENSP00000367179:E207D;ENSP00000367194:E263D;ENSP00000367188:E129D;ENSP00000438972:E316D;ENSP00000345622:E311D;ENSP00000341977:E272D;ENSP00000344471:E311D;ENSP00000420463:E294D|.	ENSP00000341977:E272D|.	E|R	-|-	3|2	2|0	IKZF3|IKZF3	35176049|35176049	0.657000|0.657000	0.27393|0.27393	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	-0.052000|-0.052000	0.11865|0.11865	0.329000|0.329000	0.23460|0.23460	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.582	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		6	47	0	0	0	0.00308	0	6	47				
COIL	8161	broad.mit.edu	37	17	55027858	55027858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:55027858C>A	ENST00000240316.4	-	2	779	c.745G>T	c.(745-747)Gag>Tag	p.E249*		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	249	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GATTCAGACTCCGAGGAGGAA	0.428																																							uc002iuu.2		NA																	0				ovary(1)	1						c.(745-747)GAG>TAG		coilin							96.0	99.0	98.0					17																	55027858		2203	4298	6501	SO:0001587	stop_gained	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027858C>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.745G>T	17.37:g.55027858C>A	ENSP00000240316:p.Glu249*						p.E249*	NM_004645	NP_004636	P38432	COIL_HUMAN			2	776	-	Breast(9;6.15e-08)		249			2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.		B2R931	Nonsense_Mutation	SNP	ENST00000240316.4	37	c.745G>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498060	0.64186	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.71	5.71	0.89125	.	0.336949	0.31381	N	0.007750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.825	18.0398	0.89315	0.0:1.0:0.0:0.0	.	.	.	.	X	249	.	ENSP00000240316:E249X	E	-	1	0	COIL	52382857	0.985000	0.35326	0.994000	0.49952	0.149000	0.21700	4.197000	0.58413	2.700000	0.92200	0.557000	0.71058	GAG		0.428	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			18	42	1	0	1.01871e-10	0.008871	1.38695e-10	18	42				
APOH	350	broad.mit.edu	37	17	64216808	64216808	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:64216808A>T	ENST00000205948.6	-	5	505	c.468T>A	c.(466-468)taT>taA	p.Y156*		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	156	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CTGATGGCTTATAAACACGAA	0.403																																					Melanoma(155;624 1882 16869 48804 51309)	Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3		NA																	0					0						c.(466-468)TAT>TAA		apolipoprotein H precursor							118.0	115.0	116.0					17																	64216808		2203	4300	6503	SO:0001587	stop_gained	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64216808A>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.468T>A	17.37:g.64216808A>T	ENSP00000205948:p.Tyr156*						p.Y156*	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	527	-			156			Sushi 3.		B2R9M3|Q9UCN7	Nonsense_Mutation	SNP	ENST00000205948.6	37	c.468T>A	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	a	17.20	3.329787	0.60743	.	.	ENSG00000091583	ENST00000205948	.	.	.	5.42	-2.18	0.07037	.	0.649555	0.16449	N	0.213932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2547	0.26168	0.4477:0.0:0.4346:0.1177	.	.	.	.	X	156	.	ENSP00000205948:Y156X	Y	-	3	2	APOH	61647270	0.000000	0.05858	0.015000	0.15790	0.346000	0.29079	-0.245000	0.08890	-0.486000	0.06744	0.460000	0.39030	TAT		0.403	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		22	66	0	0	0	0.004656	0	22	66				
LAMA1	284217	broad.mit.edu	37	18	6980545	6980545	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:6980545G>T	ENST00000389658.3	-	42	6075	c.5982C>A	c.(5980-5982)ctC>ctA	p.L1994L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1994	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAAGTATCAAGAGTGATTCAT	0.348																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5980-5982)CTC>CTA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						199.0	172.0	181.0					18																	6980545		2201	4300	6501	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6980545G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5982C>A	18.37:g.6980545G>T						LAMA1_uc010wzj.1_Silent_p.L1470L	p.L1994L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			42	6076	-		Colorectal(10;0.172)	1994			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.5982C>A	CCDS32787.1																																																																																				0.348	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	20	1	0	1.06961e-07	0.00308	1.30787e-07	7	20				
CHMP1B	57132	broad.mit.edu	37	18	11852027	11852027	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:11852027A>G	ENST00000526991.2	+	1	633	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000269162.5_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	173					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						GCAGGGCCAGACCGGCTCCGT	0.637																																							uc002kqe.2		NA																	0					0						c.(517-519)ACC>GCC		chromatin modifying protein 1B							20.0	25.0	23.0					18																	11852027		2012	4156	6168	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11852027A>G	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.517A>G	18.37:g.11852027A>G	ENSP00000432279:p.Thr173Ala					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.T173A	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	639	+			173					Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.517A>G	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	A	7.761	0.705326	0.15172	.	.	ENSG00000255112	ENST00000526991	D	0.85955	-2.05	5.21	5.21	0.72293	.	.	.	.	.	T	0.69133	0.3077	N	0.08118	0	0.46317	D	0.998985	B	0.14012	0.009	B	0.18263	0.021	T	0.64558	-0.6379	9	0.07990	T	0.79	.	13.3819	0.60773	1.0:0.0:0.0:0.0	.	173	Q7LBR1	CHM1B_HUMAN	A	173	ENSP00000432279:T173A	ENSP00000432279:T173A	T	+	1	0	CHMP1B	11842027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.583000	0.60964	2.326000	0.78906	0.533000	0.62120	ACC		0.637	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		7	25	0	0	0	0.006214	0	7	25				
MIB1	57534	broad.mit.edu	37	18	19353597	19353597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:19353597C>T	ENST00000261537.6	+	4	808	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	182	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAGAAATCCAGGACTGGAG	0.378																																							uc002ktq.2		NA																	0				ovary(4)	4						c.(544-546)CAG>TAG		mindbomb homolog 1							75.0	67.0	69.0					18																	19353597		2203	4300	6503	SO:0001587	stop_gained	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19353597C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.544C>T	18.37:g.19353597C>T	ENSP00000261537:p.Gln182*					MIB1_uc002ktp.2_5'UTR	p.Q182*	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		4	544	+			182			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Nonsense_Mutation	SNP	ENST00000261537.6	37	c.544C>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	C	39	7.826054	0.98510	.	.	ENSG00000101752	ENST00000261537	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-10.3853	19.0873	0.93209	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000261537:Q182X	Q	+	1	0	MIB1	17607595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.508000	0.84585	0.655000	0.94253	CAG		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		14	38	0	0	0	0.004007	0	14	38				
LAMA3	3909	broad.mit.edu	37	18	21508596	21508596	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:21508596G>T	ENST00000313654.9	+	64	8544	c.8303G>T	c.(8302-8304)cGa>cTa	p.R2768L	LAMA3_ENST00000269217.6_Missense_Mutation_p.R1159L|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2712L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R1103L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2768	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R2768L(1)|p.R1159L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAGCTTGTGCGATCTGCCTCA	0.418																																							uc002kuq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8302-8304)CGA>CTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						176.0	150.0	159.0					18																	21508596		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508596G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8303G>T	18.37:g.21508596G>T	ENSP00000324532:p.Arg2768Leu					LAMA3_uc002kur.2_Missense_Mutation_p.R2712L|LAMA3_uc002kus.3_Missense_Mutation_p.R1159L|LAMA3_uc002kut.3_Missense_Mutation_p.R1103L	p.R2768L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			64	8389	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2768			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8303G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364315	0.82463	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.16457	2.34;2.34;2.34	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.45438	0.1342	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.997;0.999;0.998	T	0.36432	-0.9748	9	0.72032	D	0.01	.	17.0514	0.86519	0.0:0.0:1.0:0.0	.	1103;1159;2712;2768	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	2768;2712;1159	ENSP00000324532:R2768L;ENSP00000382432:R2712L;ENSP00000269217:R1159L	ENSP00000269217:R1159L	R	+	2	0	LAMA3	19762594	1.000000	0.71417	0.967000	0.41034	0.775000	0.43874	5.225000	0.65294	2.765000	0.95021	0.655000	0.94253	CGA		0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		37	123	1	0	2.19962e-31	0.00874	3.87374e-31	37	123				
OSBPL1A	114876	broad.mit.edu	37	18	21914211	21914211	+	Missense_Mutation	SNP	G	G	C	rs554976454		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:21914211G>C	ENST00000319481.3	-	6	684	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	160	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGTTTTACCAGAGCTGTGAGT	0.328																																							uc002kve.2		NA																	0				ovary(4)	4						c.(478-480)CTG>GTG		oxysterol-binding protein-like 1A isoform B							105.0	97.0	100.0					18																	21914211		2203	4297	6500	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21914211G>C	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.478C>G	18.37:g.21914211G>C	ENSP00000320291:p.Leu160Val						p.L160V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			6	652	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		160					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.478C>G	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087828	0.55968	.	.	ENSG00000141447	ENST00000319481	D	0.95205	-3.64	4.81	2.58	0.30949	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.95859	0.8652	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94486	0.7697	10	0.56958	D	0.05	-10.7088	6.6812	0.23121	0.3791:0.0:0.6209:0.0	.	160	Q9BXW6	OSBL1_HUMAN	V	160	ENSP00000320291:L160V	ENSP00000320291:L160V	L	-	1	2	OSBPL1A	20168209	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.022000	0.41030	1.166000	0.42689	0.655000	0.94253	CTG		0.328	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	29	0	0	0	0.001984	0	6	29				
DSC2	1824	broad.mit.edu	37	18	28648025	28648025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:28648025C>A	ENST00000280904.6	-	16	3105	c.2662G>T	c.(2662-2664)Gag>Tag	p.E888*	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	888					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATTTGGGCTCCAAATTATCC	0.398																																							uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(2662-2664)GAG>TAG		desmocollin 2 isoform Dsc2a preproprotein							85.0	75.0	79.0					18																	28648025		2203	4300	6503	SO:0001587	stop_gained	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28648025C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2662G>T	18.37:g.28648025C>A	ENSP00000280904:p.Glu888*					DSC2_uc002kwk.3_3'UTR	p.E888*	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		16	3116	-			888			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000280904.6	37	c.2662G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	44	11.174439	0.99526	.	.	ENSG00000134755	ENST00000280904;ENST00000438199;ENST00000399347	.	.	.	5.87	5.87	0.94306	.	0.000000	0.33023	N	0.005370	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	888;654;901	.	ENSP00000280904:E888X	E	-	1	0	DSC2	26902023	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.332000	0.72934	2.941000	0.99782	0.655000	0.94253	GAG		0.398	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		12	38	1	0	1.3612e-06	0.003163	1.61467e-06	12	38				
ASXL3	80816	broad.mit.edu	37	18	31323412	31323412	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:31323412G>C	ENST00000269197.5	+	12	3600	c.3600G>C	c.(3598-3600)gtG>gtC	p.V1200V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1200	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTATCTGTGCATAGTTCTG	0.418																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3598-3600)GTG>GTC		additional sex combs like 3							60.0	57.0	58.0					18																	31323412		1882	4120	6002	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323412G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3600G>C	18.37:g.31323412G>C						ASXL3_uc002kxq.2_Silent_p.V907V	p.V1200V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3655	+			1200			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.3600G>C	CCDS45847.1																																																																																				0.418	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	25	0	0	0	0.001855	0	12	25				
SLC14A2	8170	broad.mit.edu	37	18	43249312	43249312	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:43249312G>T	ENST00000255226.6	+	16	2894	c.2078G>T	c.(2077-2079)tGg>tTg	p.W693L	SLC14A2_ENST00000589658.1_Missense_Mutation_p.W170L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.W693L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	693					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGCAAGTGGGACCTCCCA	0.552																																							uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2077-2079)TGG>TTG		solute carrier family 14 (urea transporter),							185.0	170.0	175.0					18																	43249312		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43249312G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2078G>T	18.37:g.43249312G>T	ENSP00000255226:p.Trp693Leu					SLC14A2_uc002lbe.2_Missense_Mutation_p.W693L	p.W693L	NM_007163	NP_009094	Q15849	UT2_HUMAN			17	2399	+			693					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2078G>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054194	0.93793	.	.	ENSG00000132874	ENST00000255226	T	0.51325	0.71	5.76	5.76	0.90799	.	0.000000	0.52532	D	0.000073	T	0.62405	0.2425	M	0.75777	2.31	0.80722	D	1	P	0.41978	0.767	P	0.48304	0.573	T	0.65076	-0.6256	10	0.72032	D	0.01	-10.058	19.9857	0.97347	0.0:0.0:1.0:0.0	.	693	Q15849	UT2_HUMAN	L	693	ENSP00000255226:W693L	ENSP00000255226:W693L	W	+	2	0	SLC14A2	41503310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.102000	0.94226	2.706000	0.92434	0.655000	0.94253	TGG		0.552	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			55	139	1	0	3.77215e-22	0.01441	6.42387e-22	55	139				
ALPK2	115701	broad.mit.edu	37	18	56203726	56203726	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:56203726C>A	ENST00000361673.3	-	5	3906	c.3693G>T	c.(3691-3693)gaG>gaT	p.E1231D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1231						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTGCCTGCCTCCCAATTTC	0.468																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3691-3693)GAG>GAT		heart alpha-kinase							85.0	93.0	90.0					18																	56203726		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203726C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3693G>T	18.37:g.56203726C>A	ENSP00000354991:p.Glu1231Asp					ALPK2_uc002lhk.1_Missense_Mutation_p.E562D	p.E1231D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3907	-			1231					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3693G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296371	0.40594	.	.	ENSG00000198796	ENST00000361673	T	0.51574	0.7	5.7	-1.4	0.08968	.	1.655710	0.03048	N	0.154177	T	0.47395	0.1443	L	0.42245	1.32	0.09310	N	1	P;P	0.49559	0.925;0.682	P;B	0.49752	0.621;0.156	T	0.42015	-0.9476	10	0.62326	D	0.03	-3.3725	5.0107	0.14312	0.15:0.3845:0.0:0.4655	.	1226;1231	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	D	1231	ENSP00000354991:E1231D	ENSP00000354991:E1231D	E	-	3	2	ALPK2	54354706	0.001000	0.12720	0.000000	0.03702	0.137000	0.21094	-0.074000	0.11450	-0.128000	0.11641	-0.302000	0.09304	GAG		0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		23	78	1	0	6.44725e-10	0.014323	8.50839e-10	23	78				
CDH7	1005	broad.mit.edu	37	18	63527057	63527057	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:63527057C>G	ENST00000397968.2	+	10	2034	c.1608C>G	c.(1606-1608)aaC>aaG	p.N536K	CDH7_ENST00000323011.3_Missense_Mutation_p.N536K|CDH7_ENST00000536984.2_Missense_Mutation_p.N536K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGAAAGATAACAAAGGTAATG	0.363																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1606-1608)AAC>AAG		cadherin 7, type 2 preproprotein							77.0	66.0	70.0					18																	63527057		2203	4299	6502	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63527057C>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1608C>G	18.37:g.63527057C>G	ENSP00000381058:p.Asn536Lys					CDH7_uc002lka.2_Missense_Mutation_p.N536K|CDH7_uc002lkb.2_Missense_Mutation_p.N536K	p.N536K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			10	1933	+		Esophageal squamous(42;0.129)	536			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1608C>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897528	0.72639	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.58940	0.3;0.3;0.3	5.71	4.84	0.62591	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	T	0.77988	-0.2380	10	0.62326	D	0.03	.	11.5327	0.50620	0.0:0.8564:0.0:0.1436	.	536;536	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	536	ENSP00000319166:N536K;ENSP00000443030:N536K;ENSP00000381058:N536K	ENSP00000319166:N536K	N	+	3	2	CDH7	61678037	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.165000	0.50778	1.418000	0.47098	0.585000	0.79938	AAC		0.363	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		3	17	0	0	0	0.004672	0	3	17				
C19orf26	255057	broad.mit.edu	37	19	1235049	1235049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:1235049C>A	ENST00000382477.2	-	5	662	c.388G>T	c.(388-390)Gag>Tag	p.E130*	C19orf26_ENST00000590083.1_Nonsense_Mutation_p.E136*|C19orf26_ENST00000215376.6_Nonsense_Mutation_p.E130*			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	130						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCGCCTCATTGAAGGAG	0.692										HNSCC(14;0.022)																													uc002lrm.2		NA																	0					0						c.(388-390)GAG>TAG		downstream of Stk11							22.0	25.0	24.0					19																	1235049		2194	4294	6488	SO:0001587	stop_gained	255057					integral to membrane		g.chr19:1235049C>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.388G>T	19.37:g.1235049C>A	ENSP00000371917:p.Glu130*	HNSCC(14;0.022)					p.E130*	NM_152769	NP_689982	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	663	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	130					O43385	Nonsense_Mutation	SNP	ENST00000382477.2	37	c.388G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.678514	0.96764	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.123758	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4625	0.32936	0.0:0.8885:0.0:0.1115	.	.	.	.	X	130	.	ENSP00000215376:E130X	E	-	1	0	C19orf26	1186049	1.000000	0.71417	0.982000	0.44146	0.167000	0.22549	5.257000	0.65473	2.026000	0.59711	0.561000	0.74099	GAG		0.692	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		4	9	1	0	0.000602214	0.000602	0.000650089	4	9				
JSRP1	126306	broad.mit.edu	37	19	2252613	2252613	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:2252613C>G	ENST00000300961.6	-	7	775	c.711G>C	c.(709-711)gaG>gaC	p.E237D	MIR4321_ENST00000592276.1_RNA|JSRP1_ENST00000586471.2_Missense_Mutation_p.E237D	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	237	Arg-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGAGGCCTCTCCTTGGGTC	0.687																																							uc002lvi.1		NA																	0				pancreas(1)	1						c.(709-711)GAG>GAC		junctional sarcoplasmic reticulum protein 1							37.0	46.0	43.0					19																	2252613		2200	4298	6498	SO:0001583	missense	126306					sarcoplasmic reticulum membrane		g.chr19:2252613C>G	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.711G>C	19.37:g.2252613C>G	ENSP00000300961:p.Glu237Asp					JSRP1_uc002lvj.1_Missense_Mutation_p.E237D	p.E237D	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	746	-			237			Arg-rich.			Missense_Mutation	SNP	ENST00000300961.6	37	c.711G>C	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.143891	0.37825	.	.	ENSG00000167476	ENST00000300961	T	0.21031	2.03	4.43	2.16	0.27623	.	0.225330	0.30455	N	0.009584	T	0.11922	0.0290	N	0.24115	0.695	0.20307	N	0.999914	B	0.31459	0.324	B	0.30179	0.112	T	0.17018	-1.0383	10	0.45353	T	0.12	-22.0494	6.335	0.21291	0.0:0.5471:0.2849:0.1679	.	237	Q96MG2	JSPR1_HUMAN	D	237	ENSP00000300961:E237D	ENSP00000300961:E237D	E	-	3	2	JSRP1	2203613	0.000000	0.05858	0.869000	0.34112	0.361000	0.29550	0.185000	0.16958	0.454000	0.26884	0.550000	0.68814	GAG		0.687	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		12	61	0	0	0	0.013537	0	12	61				
ZFR2	23217	broad.mit.edu	37	19	3822144	3822144	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:3822144T>C	ENST00000262961.4	-	9	1436	c.1426A>G	c.(1426-1428)Agt>Ggt	p.S476G		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	476							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGTTGAAACTGCACTCGCAC	0.667																																							uc002lyw.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1426-1428)AGT>GGT		zinc finger RNA binding protein 2 isoform 1							28.0	33.0	32.0					19																	3822144		2106	4220	6326	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3822144T>C	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1426A>G	19.37:g.3822144T>C	ENSP00000262961:p.Ser476Gly					ZFR2_uc010xhx.1_RNA	p.S476G	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	9	1438	-			476						Missense_Mutation	SNP	ENST00000262961.4	37	c.1426A>G	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948084	0.53186	.	.	ENSG00000105278	ENST00000262961	T	0.25250	1.81	3.54	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	U	0.000000	T	0.38852	0.1056	L	0.57536	1.79	0.80722	D	1	D	0.60160	0.987	D	0.65140	0.932	T	0.09378	-1.0677	10	0.56958	D	0.05	-8.0007	6.6504	0.22959	0.0:0.1193:0.0:0.8807	.	476	Q9UPR6	ZFR2_HUMAN	G	476	ENSP00000262961:S476G	ENSP00000262961:S476G	S	-	1	0	ZFR2	3773144	1.000000	0.71417	0.435000	0.26784	0.234000	0.25298	3.398000	0.52579	0.454000	0.26884	0.379000	0.24179	AGT		0.667	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		7	9	0	0	0	0.004482	0	7	9				
ACTL9	284382	broad.mit.edu	37	19	8808217	8808217	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:8808217T>A	ENST00000324436.3	-	1	955	c.835A>T	c.(835-837)Act>Tct	p.T279S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	279						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCTTCAGAGTCCGCTTGTAC	0.632																																							uc002mkl.2		NA																	0				large_intestine(2)|pancreas(1)	3						c.(835-837)ACT>TCT		actin-like 9							35.0	35.0	35.0					19																	8808217		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808217T>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.835A>T	19.37:g.8808217T>A	ENSP00000316674:p.Thr279Ser						p.T279S	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	956	-			279					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.835A>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	t	0.007	-1.939981	0.00484	.	.	ENSG00000181786	ENST00000324436	D	0.93811	-3.29	4.63	-0.518	0.11943	.	2.112370	0.02907	N	0.136285	D	0.82747	0.5104	N	0.10837	0.055	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.75897	-0.3155	10	0.02654	T	1	.	5.0594	0.14550	0.1573:0.2081:0.0:0.6346	.	279	Q8TC94	ACTL9_HUMAN	S	279	ENSP00000316674:T279S	ENSP00000316674:T279S	T	-	1	0	ACTL9	8669217	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.641000	0.05434	-0.288000	0.09051	0.255000	0.18592	ACT		0.632	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		15	46	0	0	0	0.004007	0	15	46				
OR2Z1	284383	broad.mit.edu	37	19	8842168	8842168	+	Missense_Mutation	SNP	A	A	G	rs61746161	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:8842168A>G	ENST00000324060.2	+	1	853	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	260						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)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTCATGTACATGGTGCCTTG	0.552																																							uc010xkg.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(778-780)ATG>GTG		olfactory receptor, family 2, subfamily Z,							178.0	143.0	154.0					19																	8842168		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842168A>G	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.778A>G	19.37:g.8842168A>G	ENSP00000316284:p.Met260Val						p.M260V	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	778	+			260			Extracellular (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.778A>G	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648119	0.29336	.	.	ENSG00000181733	ENST00000324060	T	0.35048	1.33	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.25094	0.71	0.23260	N	0.998029	P	0.49696	0.927	P	0.54706	0.759	T	0.10177	-1.0641	10	0.35671	T	0.21	.	8.8864	0.35406	0.8113:0.1887:0.0:0.0	.	260	Q8NG97	OR2Z1_HUMAN	V	260	ENSP00000316284:M260V	ENSP00000316284:M260V	M	+	1	0	OR2Z1	8703168	0.050000	0.20438	1.000000	0.80357	0.596000	0.36781	0.310000	0.19356	1.910000	0.55303	0.444000	0.29173	ATG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			18	48	0	0	0	0.012319	0	18	48				
CYP4F2	8529	broad.mit.edu	37	19	15990587	15990587	+	Silent	SNP	C	C	A	rs554245566		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:15990587C>A	ENST00000221700.6	-	10	1331	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGGATGACCCGGCCGTCTG	0.632																																							uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(1234-1236)CGG>CGT		cytochrome P450, family 4, subfamily F,							84.0	89.0	88.0					19																	15990587		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990587C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1236G>T	19.37:g.15990587C>A						CYP4F2_uc010xot.1_Silent_p.R263R	p.R412R	NM_001082	NP_001073	P78329	CP4F2_HUMAN			10	1286	-			412						Silent	SNP	ENST00000221700.6	37	c.1236G>T	CCDS12336.1																																																																																				0.632	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		28	82	1	0	6.90743e-12	0.003755	9.90064e-12	28	82				
NWD1	284434	broad.mit.edu	37	19	16874726	16874726	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:16874726C>A	ENST00000552788.1	+	7	2221	c.2221C>A	c.(2221-2223)Cgc>Agc	p.R741S	NWD1_ENST00000339803.6_Missense_Mutation_p.R606S|NWD1_ENST00000379808.3_Missense_Mutation_p.R741S|NWD1_ENST00000524140.2_Missense_Mutation_p.R741S|NWD1_ENST00000549814.1_Missense_Mutation_p.R741S|NWD1_ENST00000523826.1_Missense_Mutation_p.R535S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	741							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACTCGGGCCGCCTGGAGGA	0.612																																							uc002neu.3		NA																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(2221-2223)CGC>AGC		RecName: Full=NACHT and WD repeat domain-containing protein 1;																																				SO:0001583	missense	284434						ATP binding	g.chr19:16874726C>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2221C>A	19.37:g.16874726C>A	ENSP00000447224:p.Arg741Ser					NWD1_uc002net.3_Missense_Mutation_p.R606S|NWD1_uc002nev.3_Missense_Mutation_p.R535S	p.R741S			Q149M9	NWD1_HUMAN			9	2643	+			741					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2221C>A		.	.	.	.	.	.	.	.	.	.	C	15.62	2.887324	0.52014	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.60920	0.17;0.23;0.17;0.15;0.21;0.21	4.88	3.82	0.43975	.	0.396975	0.26265	N	0.025363	T	0.45716	0.1356	L	0.49455	1.56	0.31864	N	0.620579	P;P;P	0.43701	0.465;0.815;0.678	B;B;B	0.40702	0.125;0.338;0.247	T	0.48736	-0.9009	10	0.08381	T	0.77	-26.1432	9.5217	0.39140	0.0:0.8969:0.0:0.1031	.	741;741;606	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	606;741;741;741;535;741;606	ENSP00000428579:R741S;ENSP00000447548:R741S;ENSP00000369136:R741S;ENSP00000428955:R535S;ENSP00000447224:R741S;ENSP00000340159:R606S	ENSP00000340159:R606S	R	+	1	0	NWD1	16735726	0.385000	0.25172	0.927000	0.36925	0.824000	0.46624	1.212000	0.32394	2.257000	0.74773	0.472000	0.43445	CGC		0.612	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		14	45	1	0	7.93312e-07	0.00245	9.43201e-07	14	45				
ZNF99	7652	broad.mit.edu	37	19	22939348	22939348	+	IGR	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:22939348C>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.E941E|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTCCAGTAT	0.373																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2821-2823)GAG>GAA		zinc finger protein 99							32.0	45.0	41.0					19																	22939348		1976	4258	6234	SO:0001628	intergenic_variant	7652							g.chr19:22939348C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939348C>T							p.E941E	NM_001080409	NP_001073878					7	2823	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2823G>A	CCDS59369.1																																																																																				0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		13	20	0	0	0	0.00499	0	13	20				
ZNF536	9745	broad.mit.edu	37	19	30935800	30935800	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:30935800C>A	ENST00000355537.3	+	2	1478	c.1331C>A	c.(1330-1332)gCc>gAc	p.A444D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	444					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGGACAAAGCCGGCCTGAGC	0.647																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1330-1332)GCC>GAC		zinc finger protein 536							24.0	27.0	26.0					19																	30935800		2200	4298	6498	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935800C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1331C>A	19.37:g.30935800C>A	ENSP00000347730:p.Ala444Asp					ZNF536_uc010edd.1_Missense_Mutation_p.A444D	p.A444D	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1469	+	Esophageal squamous(110;0.0834)		444					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1331C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.988852	0.00439	.	.	ENSG00000198597	ENST00000355537	T	0.08008	3.14	5.44	4.41	0.53225	.	0.436673	0.27393	N	0.019568	T	0.07098	0.0180	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.32245	0.361;0.361	B;B	0.26864	0.074;0.074	T	0.20140	-1.0284	10	0.48119	T	0.1	-9.6211	16.4054	0.83662	0.0:0.868:0.1319:0.0	.	444;444	A7E228;O15090	.;ZN536_HUMAN	D	444	ENSP00000347730:A444D	ENSP00000347730:A444D	A	+	2	0	ZNF536	35627640	0.170000	0.23016	0.071000	0.20095	0.036000	0.12997	1.570000	0.36439	1.296000	0.44742	-0.187000	0.12897	GCC		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		15	33	1	0	5.01169e-05	0.00499	5.63406e-05	15	33				
PEPD	5184	broad.mit.edu	37	19	34003636	34003636	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:34003636G>T	ENST00000244137.7	-	2	97	c.64C>A	c.(64-66)Ctc>Atc	p.L22I	PEPD_ENST00000436370.3_Missense_Mutation_p.L22I|PEPD_ENST00000397032.4_Missense_Mutation_p.L22I	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	22					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AAGGCAAAGAGCGCCAGCGGC	0.632																																							uc002nur.3		NA																	0				ovary(2)	2						c.(64-66)CTC>ATC		prolidase isoform 1							37.0	40.0	39.0					19																	34003636		2048	4198	6246	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:34003636G>T	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.64C>A	19.37:g.34003636G>T	ENSP00000244137:p.Leu22Ile					PEPD_uc010xrr.1_Missense_Mutation_p.L22I|PEPD_uc010xrs.1_Missense_Mutation_p.L22I	p.L22I	NM_000285	NP_000276	P12955	PEPD_HUMAN			2	199	-	Esophageal squamous(110;0.137)		22					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.64C>A	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421192	0.62622	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.77229	-1.08;-1.08;-1.08	4.62	4.62	0.57501	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88551	0.6467	M	0.90082	3.085	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.987	D;D;D	0.79108	0.992;0.973;0.956	D	0.89641	0.3862	10	0.62326	D	0.03	-36.0689	10.1387	0.42723	0.0943:0.0:0.9057:0.0	.	22;22;22	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	I	22	ENSP00000244137:L22I;ENSP00000380226:L22I;ENSP00000391890:L22I	ENSP00000244137:L22I	L	-	1	0	PEPD	38695476	1.000000	0.71417	0.881000	0.34555	0.610000	0.37248	5.775000	0.68915	2.288000	0.76882	0.313000	0.20887	CTC		0.632	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		13	33	1	0	4.36969e-10	0.001855	5.78144e-10	13	33				
KCTD15	79047	broad.mit.edu	37	19	34302445	34302445	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:34302445C>G	ENST00000430256.3	+	5	1089	c.681C>G	c.(679-681)ctC>ctG	p.L227L	KCTD15_ENST00000284006.6_Silent_p.L227L|KCTD15_ENST00000588881.1_Silent_p.L227L|KCTD15_ENST00000589786.1_Silent_p.L227L			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	227					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					ACTGCCGGCTCAACTCGGTAC	0.697																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.3		NA																	0				pancreas(1)	1						c.(679-681)CTC>CTG		potassium channel tetramerisation domain							19.0	19.0	19.0					19																	34302445		2200	4297	6497	SO:0001819	synonymous_variant	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34302445C>G	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.681C>G	19.37:g.34302445C>G						KCTD15_uc002nuv.2_Silent_p.L227L|KCTD15_uc002nuw.3_Silent_p.L227L|KCTD15_uc010xrt.1_Silent_p.L227L|KCTD15_uc002nux.3_Silent_p.L227L	p.L227L	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN			6	949	+	Esophageal squamous(110;0.162)		227					A8K600|Q9BVI6	Silent	SNP	ENST00000430256.3	37	c.681C>G	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166656	0.21621	.	.	ENSG00000153885	ENST00000413790	.	.	.	5.01	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0877	0.30782	0.1488:0.5952:0.256:0.0	.	.	.	.	X	102	.	ENSP00000406942:S102X	S	+	2	0	KCTD15	38994285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.464000	0.35288	2.330000	0.79161	0.655000	0.94253	TCA		0.697	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076		9	43	0	0	0	0.006214	0	9	43				
HKR1	284459	broad.mit.edu	37	19	37854120	37854121	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:37854120_37854121GG>TT	ENST00000324411.4	+	6	1692_1693	c.1423_1424GG>TT	c.(1423-1425)GGg>TTg	p.G475L	HKR1_ENST00000392153.3_Missense_Mutation_p.G456L|HKR1_ENST00000589392.1_Missense_Mutation_p.G457L|HKR1_ENST00000541583.2_Missense_Mutation_p.G414L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Missense_Mutation_p.G202L|HKR1_ENST00000544914.1_Missense_Mutation_p.G202L	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	475					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTGGAGTGCGGGCAGTGCTTT	0.51																																							uc002ogb.2		NA																	0				ovary(2)	2						c.(1423-1425)GGG>TTG		GLI-Kruppel family member HKR1																																				SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854120_37854121GG>TT	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		Exception_encountered	19.37:g.37854120_37854121delinsTT	ENSP00000315505:p.Gly475Leu					HKR1_uc002ofx.2_Missense_Mutation_p.G191L|HKR1_uc002ofy.2_Missense_Mutation_p.G191L|HKR1_uc002oga.2_Missense_Mutation_p.G457L|HKR1_uc010xto.1_Missense_Mutation_p.G457L|HKR1_uc002ogc.2_Missense_Mutation_p.G456L|HKR1_uc010xtp.1_Missense_Mutation_p.G414L|HKR1_uc002ogd.2_Missense_Mutation_p.G414L	p.G475L	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1692_1693	+			475			C2H2-type 7.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	DNP	ENST00000324411.4	37	c.1423_1424GG>TT	CCDS12502.1																																																																																				0.510	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		23	62	0	0	0	0.004672	0	23	62				
HKR1	284459	broad.mit.edu	37	19	37854344	37854344	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:37854344G>A	ENST00000324411.4	+	6	1916	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	HKR1_ENST00000392153.3_Silent_p.G530G|HKR1_ENST00000589392.1_Silent_p.G531G|HKR1_ENST00000541583.2_Silent_p.G488G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.G276G|HKR1_ENST00000544914.1_Silent_p.G276G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	549					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACATTCAGGGGAAAAGCCTT	0.512																																							uc002ogb.2		NA																	0				ovary(2)	2						c.(1645-1647)GGG>GGA		GLI-Kruppel family member HKR1							53.0	48.0	50.0					19																	37854344		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854344G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1647G>A	19.37:g.37854344G>A						HKR1_uc002ofx.2_Silent_p.G265G|HKR1_uc002ofy.2_Silent_p.G265G|HKR1_uc002oga.2_Silent_p.G531G|HKR1_uc010xto.1_Silent_p.G531G|HKR1_uc002ogc.2_Silent_p.G530G|HKR1_uc010xtp.1_Silent_p.G488G|HKR1_uc002ogd.2_Silent_p.G488G	p.G549G	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1916	+			549					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.1647G>A	CCDS12502.1																																																																																				0.512	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		8	33	0	0	0	0.004482	0	8	33				
RYR1	6261	broad.mit.edu	37	19	38948829	38948829	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:38948829C>A	ENST00000359596.3	+	18	2064	c.2064C>A	c.(2062-2064)acC>acA	p.T688T	RYR1_ENST00000360985.3_Silent_p.T688T|RYR1_ENST00000355481.4_Silent_p.T688T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	688	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T688T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGCCCTCACCGAGGGCTACA	0.627																																							uc002oit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2062-2064)ACC>ACA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						56.0	52.0	53.0					19																	38948829		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948829C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2064C>A	19.37:g.38948829C>A						RYR1_uc002oiu.2_Silent_p.T688T	p.T688T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2194	+	all_cancers(60;7.91e-06)		688			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2064C>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	66	1	0	1.01871e-10	0.008871	1.38695e-10	19	66				
DEDD2	162989	broad.mit.edu	37	19	42719285	42719285	+	Splice_Site	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:42719285C>G	ENST00000595337.1	-	3	535	c.448G>C	c.(448-450)Ggc>Cgc	p.G150R	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Splice_Site_p.G150R|DEDD2_ENST00000336034.4_Intron|DEDD2_ENST00000598727.1_Splice_Site_p.G150R	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	150					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTGGGCTCACCTGTCTCCCAC	0.542																																							uc002osu.1		NA																	0					0						c.(448-450)GGC>CGC		death effector domain-containing  DNA binding							93.0	79.0	84.0					19																	42719285		2203	4300	6503	SO:0001630	splice_region_variant	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42719285C>G	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.448+1G>C	19.37:g.42719285C>G						DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Intron|DEDD2_uc002osx.1_Missense_Mutation_p.Q33H|DEDD2_uc002osy.1_Missense_Mutation_p.G150R	p.G150R	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			3	516	-		Prostate(69;0.0704)	150					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.448G>C	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367562	0.61513	.	.	ENSG00000160570	ENST00000336034	.	.	.	4.88	4.88	0.63580	.	0.278252	0.33938	N	0.004410	T	0.51702	0.1690	N	0.08118	0	0.47949	D	0.999557	D	0.89917	1.0	D	0.78314	0.991	T	0.54050	-0.8351	8	.	.	.	-14.877	15.3685	0.74541	0.0:1.0:0.0:0.0	.	150	Q8WXF8	DEDD2_HUMAN	R	150	.	.	G	-	1	0	DEDD2	47411125	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.319000	0.59197	2.424000	0.82194	0.650000	0.86243	GGC		0.542	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328	Missense_Mutation	17	71	0	0	0	0.00278	0	17	71				
TMEM145	284339	broad.mit.edu	37	19	42824524	42824524	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:42824524G>C	ENST00000301204.3	+	13	1170	c.1129G>C	c.(1129-1131)Gcc>Ccc	p.A377P	TMEM145_ENST00000598766.1_Missense_Mutation_p.A401P	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	377					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCCCAAGTGGGCCCGGGAGAA	0.577																																							uc002otk.1		NA																	0					0						c.(1129-1131)GCC>CCC		transmembrane protein 145							123.0	114.0	117.0					19																	42824524		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42824524G>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1129G>C	19.37:g.42824524G>C	ENSP00000301204:p.Ala377Pro						p.A377P	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			13	1181	+		Prostate(69;0.00682)	377						Missense_Mutation	SNP	ENST00000301204.3	37	c.1129G>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468467	0.84533	.	.	ENSG00000167619	ENST00000301204	T	0.45668	0.89	4.23	4.23	0.50019	Rhodopsin-like GPCR transmembrane domain (1);	0.066337	0.64402	N	0.000019	T	0.56877	0.2015	M	0.63428	1.95	0.58432	D	0.999999	D	0.65815	0.995	P	0.61658	0.892	T	0.55854	-0.8075	10	0.36615	T	0.2	-22.9509	14.8982	0.70659	0.0:0.0:1.0:0.0	.	377	Q8NBT3	TM145_HUMAN	P	377	ENSP00000301204:A377P	ENSP00000301204:A377P	A	+	1	0	TMEM145	47516364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.310000	0.77875	0.555000	0.69702	GCC		0.577	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		25	71	0	0	0	0.004656	0	25	71				
ZNF233	353355	broad.mit.edu	37	19	44777052	44777052	+	Splice_Site	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:44777052G>A	ENST00000391958.2	+	5	366	c.239G>A	c.(238-240)gGa>gAa	p.G80E	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_Splice_Site_p.*141*|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCATTCTAGGACACAAGAAT	0.323																																							uc002oyz.1		NA																	0				skin(2)	2						c.(238-240)GGA>GAA		zinc finger protein 233							47.0	50.0	49.0					19																	44777052		2198	4295	6493	SO:0001630	splice_region_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777052G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.239-1G>A	19.37:g.44777052G>A						ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_5'UTR	p.G80E	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	366	+		Prostate(69;0.0435)|all_neural(266;0.226)	80					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.239G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266212	0.40095	.	.	ENSG00000159915	ENST00000391958;ENST00000544563;ENST00000280305	T	0.05855	3.38	2.49	1.41	0.22369	.	.	.	.	.	T	0.11367	0.0277	L	0.60455	1.87	0.80722	D	1	D	0.54047	0.964	P	0.50352	0.638	T	0.05869	-1.0859	9	0.87932	D	0	.	9.158	0.37005	0.0:0.2266:0.7734:0.0	.	80	A6NK53	ZN233_HUMAN	E	80;1;1	ENSP00000375820:G80E	ENSP00000280305:G1E	G	+	2	0	ZNF233	49468892	0.386000	0.25180	0.160000	0.22671	0.087000	0.18053	1.146000	0.31589	0.592000	0.29728	0.407000	0.27541	GGA		0.323	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	Missense_Mutation	6	20	0	0	0	0.001984	0	6	20				
DMWD	1762	broad.mit.edu	37	19	46289820	46289820	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:46289820G>A	ENST00000270223.6	-	3	979	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	DMWD_ENST00000377735.3_Missense_Mutation_p.H312Y|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	312										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GAGTCGAAGTGGAAGACGCGC	0.662																																							uc002pdj.1		NA																	0					0						c.(934-936)CAC>TAC		dystrophia myotonica-containing WD repeat motif							43.0	48.0	46.0					19																	46289820		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46289820G>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.934C>T	19.37:g.46289820G>A	ENSP00000270223:p.His312Tyr					DMWD_uc002pdk.1_Missense_Mutation_p.H312Y|DMWD_uc010eko.1_5'UTR	p.H312Y	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	980	-		Ovarian(192;0.0308)|all_neural(266;0.112)	312			WD 2.			Missense_Mutation	SNP	ENST00000270223.6	37	c.934C>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659403	0.29515	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.28666	1.6;1.6	3.75	2.67	0.31697	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.133749	0.48767	N	0.000168	T	0.24547	0.0595	N	0.21508	0.67	0.41418	D	0.987781	P;P	0.41313	0.51;0.745	B;P	0.45377	0.201;0.478	T	0.05599	-1.0875	10	0.87932	D	0	-32.455	8.6456	0.34003	0.0:0.0:0.5843:0.4157	.	312;312	G5E9A7;Q09019	.;DMWD_HUMAN	Y	312	ENSP00000366964:H312Y;ENSP00000270223:H312Y	ENSP00000270223:H312Y	H	-	1	0	DMWD	50981660	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.890000	0.39728	0.908000	0.36671	0.407000	0.27541	CAC		0.662	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		14	35	0	0	0	0.003163	0	14	35				
DHX34	9704	broad.mit.edu	37	19	47870342	47870342	+	Silent	SNP	C	C	A	rs373860563		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:47870342C>A	ENST00000328771.4	+	7	2047	c.1698C>A	c.(1696-1698)gcC>gcA	p.A566A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	566					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACCAGGGGGCCCTGGACAGCT	0.642																																							uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1696-1698)GCC>GCA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							33.0	34.0	33.0					19																	47870342		2203	4297	6500	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47870342C>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1698C>A	19.37:g.47870342C>A						DHX34_uc010elc.1_Silent_p.A481A	p.A566A	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2039	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	566					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.1698C>A	CCDS12700.1																																																																																				0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	15	1	0	4.36969e-10	0.001855	5.78144e-10	7	15				
SULT2A1	6822	broad.mit.edu	37	19	48387042	48387042	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:48387042C>A	ENST00000222002.3	-	2	276	c.137G>T	c.(136-138)gGa>gTa	p.G46V		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	46					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CCAGTTTGTTCCTGGAAAAAG	0.507																																							uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(136-138)GGA>GTA		bile-salt sulfotransferase 2A1							45.0	45.0	45.0					19																	48387042		2203	4300	6503	SO:0001630	splice_region_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48387042C>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.137-1G>T	19.37:g.48387042C>A							p.G46V	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	277	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	46			PAPS.			Missense_Mutation	SNP	ENST00000222002.3	37	c.137G>T	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.170099	0.38315	.	.	ENSG00000105398	ENST00000222002	D	0.99683	-6.39	3.56	3.56	0.40772	Sulfotransferase domain (1);	0.000000	0.56097	D	0.000031	D	0.99829	0.9923	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96590	0.9437	10	0.87932	D	0	.	13.0376	0.58881	0.0:1.0:0.0:0.0	.	46	Q06520	ST2A1_HUMAN	V	46	ENSP00000222002:G46V	ENSP00000222002:G46V	G	-	2	0	SULT2A1	53078854	0.997000	0.39634	0.541000	0.28102	0.209000	0.24338	3.103000	0.50298	2.023000	0.59567	0.639000	0.83563	GGA		0.507	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167	Missense_Mutation	9	26	1	0	0.00448238	0.004482	0.0046915	9	26				
EMP3	2014	broad.mit.edu	37	19	48830119	48830120	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:48830119_48830120GG>TT	ENST00000270221.6	+	2	319_320	c.18_19GG>TT	c.(16-21)ctGGtg>ctTTtg	p.V7L	EMP3_ENST00000596315.1_Intron|EMP3_ENST00000597279.1_Missense_Mutation_p.V7L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	7					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCCTCTTGCTGGTGGTCTCAGC	0.564																																							uc002piv.2		NA																	0					0						c.(16-21)CTGGTG>CTTTTG		epithelial membrane protein 3																																				SO:0001583	missense	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48830119_48830120GG>TT	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		Exception_encountered	19.37:g.48830119_48830120delinsTT	ENSP00000270221:p.Val7Leu						p.V7L	NM_001425	NP_001416	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	2	272_273	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	7			Helical; (Potential).		Q6FH01	Missense_Mutation	DNP	ENST00000270221.6	37	c.18_19GG>TT	CCDS12715.1																																																																																				0.564	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	NM_001425		53	155	0	0	0	0.004672	0	53	155				
SPHK2	56848	broad.mit.edu	37	19	49132455	49132455	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:49132455C>T	ENST00000245222.4	+	7	1756	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S	SPHK2_ENST00000443164.1_Missense_Mutation_p.P526S|SPHK2_ENST00000340932.3_Missense_Mutation_p.P426S|SPHK2_ENST00000599748.1_Missense_Mutation_p.P428S|SPHK2_ENST00000598088.1_Missense_Mutation_p.P464S|SPHK2_ENST00000599029.1_Missense_Mutation_p.P428S|SPHK2_ENST00000600537.1_Missense_Mutation_p.P405S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	464					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGGGGATGCTCCGCTGTCCCC	0.682																																							uc002pjr.2		NA																	0				lung(1)	1						c.(1390-1392)CCG>TCG		sphingosine kinase 2							46.0	58.0	54.0					19																	49132455		2203	4299	6502	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132455C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1390C>T	19.37:g.49132455C>T	ENSP00000245222:p.Pro464Ser					SPHK2_uc010xzt.1_Missense_Mutation_p.P405S|SPHK2_uc002pjs.2_Missense_Mutation_p.P464S|SPHK2_uc002pjt.2_Missense_Mutation_p.P258S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.P428S|SPHK2_uc002pjw.2_Missense_Mutation_p.P526S	p.P464S	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1756	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	464					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1390C>T	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225734	0.22542	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.22743	2.29;1.99;1.94	3.91	3.91	0.45181	.	0.178483	0.34603	N	0.003838	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;B;B	0.34290	0.141;0.447;0.447	B;B;B	0.31245	0.039;0.126;0.078	T	0.21999	-1.0229	10	0.05525	T	0.97	-11.1213	14.2019	0.65710	0.0:1.0:0.0:0.0	.	405;526;464	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	S	464;437;426;526	ENSP00000245222:P464S;ENSP00000341091:P426S;ENSP00000413369:P526S	ENSP00000245222:P464S	P	+	1	0	SPHK2	53824267	0.180000	0.23148	0.210000	0.23637	0.879000	0.50718	4.252000	0.58785	2.479000	0.83701	0.556000	0.70494	CCG		0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			41	116	0	0	0	0.01441	0	41	116				
MYBPC2	4606	broad.mit.edu	37	19	50944254	50944254	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:50944254C>G	ENST00000357701.5	+	8	741	c.690C>G	c.(688-690)gcC>gcG	p.A230A		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	230					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGAAAATCGCCTTCCAGTATG	0.542																																							uc002psf.2		NA																	0				breast(1)	1						c.(688-690)GCC>GCG		myosin binding protein C, fast type							40.0	43.0	42.0					19																	50944254		2093	4248	6341	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944254C>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.690C>G	19.37:g.50944254C>G							p.A230A	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	741	+		all_neural(266;0.057)	230					A1L4G9	Silent	SNP	ENST00000357701.5	37	c.690C>G	CCDS46152.1																																																																																				0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	14	0	0	0	0.001168	0	6	14				
NLRP12	91662	broad.mit.edu	37	19	54310817	54310817	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54310817C>A	ENST00000324134.6	-	4	2343	c.2175G>T	c.(2173-2175)ctG>ctT	p.L725L	NLRP12_ENST00000351894.4_Silent_p.L725L|NLRP12_ENST00000354278.3_Silent_p.L725L|NLRP12_ENST00000391773.1_Silent_p.L726L|NLRP12_ENST00000391772.1_Silent_p.L726L|NLRP12_ENST00000535162.1_Silent_p.L725L|NLRP12_ENST00000391775.3_Silent_p.L725L|NLRP12_ENST00000345770.5_Silent_p.L726L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	725					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCGGCTGCCCAGGGCATTTC	0.582																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2173-2175)CTG>CTT		NLR family, pyrin domain containing 12 isoform							77.0	69.0	71.0					19																	54310817		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54310817C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2175G>T	19.37:g.54310817C>A						NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Silent_p.L725L|NLRP12_uc002qcj.3_Silent_p.L726L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L726L	p.L725L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	4	2395	-	Ovarian(34;0.19)		725					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.2175G>T	CCDS12864.1																																																																																				0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		17	49	1	0	4.14922e-12	0.004007	5.98044e-12	17	49				
LILRB5	10990	broad.mit.edu	37	19	54758764	54758764	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54758764G>C	ENST00000316219.5	-	6	1196	c.1089C>G	c.(1087-1089)ccC>ccG	p.P363P	LILRB5_ENST00000450632.1_Silent_p.P354P|LILRB5_ENST00000449561.2_Silent_p.P363P|LILRB5_ENST00000345866.6_Silent_p.P263P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	363	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547																																							uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1087-1089)CCC>CCG		leukocyte immunoglobulin-like receptor,							71.0	70.0	70.0					19																	54758764		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758764G>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1089C>G	19.37:g.54758764G>C						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P354P|LILRB5_uc002qey.2_Silent_p.P363P|LILRB5_uc002qez.2_Silent_p.P263P|LILRB5_uc002qfa.1_Silent_p.P253P|LILRB5_uc010yes.1_RNA	p.P363P	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1200	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		363			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1089C>G	CCDS12885.1																																																																																				0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			10	72	0	0	0	0.010729	0	10	72				
LILRA4	23547	broad.mit.edu	37	19	54848130	54848130	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54848130G>A	ENST00000291759.4	-	6	1293	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	413	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ACGAGCTCCAGGGGCTCACTG	0.597																																							uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1237-1239)CTG>TTG		leukocyte immunoglobulin-like receptor subfamily							93.0	77.0	82.0					19																	54848130		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848130G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1237C>T	19.37:g.54848130G>A						LILRA4_uc002qfi.2_Silent_p.L347L	p.L413L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1294	-	Ovarian(34;0.19)		413			Ig-like C2-type 4.|Extracellular (Potential).		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.1237C>T	CCDS12890.1																																																																																				0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		24	46	0	0	0	0.003954	0	24	46				
LILRA2	11027	broad.mit.edu	37	19	55087568	55087568	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:55087568T>A	ENST00000251377.3	+	7	1380	c.1247T>A	c.(1246-1248)gTg>gAg	p.V416E	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.V404E|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V416E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.V416E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	416					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGGAGCTCGTGGTCTCAGGT	0.612																																							uc002qgg.3		NA																	0				ovary(1)	1						c.(1246-1248)GTG>GAG		leukocyte immunoglobulin-like receptor,							80.0	74.0	76.0					19																	55087568		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087568T>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1247T>A	19.37:g.55087568T>A	ENSP00000251377:p.Val416Glu					LILRA2_uc010ern.2_Missense_Mutation_p.V416E|LILRA2_uc002qgf.2_Missense_Mutation_p.V416E|LILRA2_uc010yfe.1_Missense_Mutation_p.V416E|LILRA2_uc010yff.1_Missense_Mutation_p.V404E|LILRA2_uc010ero.2_Missense_Mutation_p.V404E|LILRA2_uc010yfg.1_Intron	p.V416E	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1336	+			416			Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.1247T>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930663	0.34096	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00816	5.66;5.66;5.66;5.66	2.42	-4.12	0.03916	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.622570	0.01562	N	0.020151	T	0.04227	0.0117	M	0.88775	2.98	0.20638	N	0.999876	B;B;D	0.56746	0.414;0.038;0.977	B;B;P	0.58520	0.196;0.103;0.84	T	0.41538	-0.9503	10	0.48119	T	0.1	.	3.5538	0.07857	0.3702:0.0:0.3725:0.2572	.	404;416;416	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	E	416;416;416;404	ENSP00000251377:V416E;ENSP00000375618:V416E;ENSP00000251376:V416E;ENSP00000375617:V404E	ENSP00000251376:V416E	V	+	2	0	LILRA2	59779380	0.001000	0.12720	0.052000	0.19188	0.222000	0.24845	-0.856000	0.04290	-0.732000	0.04856	-0.678000	0.03780	GTG		0.612	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			24	83	0	0	0	0.003954	0	24	83				
SYT5	6861	broad.mit.edu	37	19	55685998	55685998	+	Missense_Mutation	SNP	G	G	T	rs369519456		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:55685998G>T	ENST00000354308.3	-	8	1216	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	SYT5_ENST00000537500.1_Missense_Mutation_p.L283M|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.L279M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	283	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCTGCAGCAGGTGGACCTTG	0.522																																							uc002qjm.1		NA																	0					0						c.(847-849)CTG>ATG		synaptotagmin V							142.0	130.0	134.0					19																	55685998		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55685998G>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.847C>A	19.37:g.55685998G>T	ENSP00000346265:p.Leu283Met					SYT5_uc002qjp.2_Missense_Mutation_p.L279M|SYT5_uc002qjn.1_Missense_Mutation_p.L283M|SYT5_uc002qjo.1_Missense_Mutation_p.L282M	p.L283M	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1907	-			283			Cytoplasmic (Potential).|C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.847C>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192022	0.78902	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.73681	-0.77;-0.77	3.44	3.44	0.39384	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.84835	0.5560	M	0.74389	2.26	0.45852	D	0.998716	D;D;D	0.71674	0.991;0.998;0.981	D;D;D	0.91635	0.955;0.999;0.955	D	0.87145	0.2205	10	0.72032	D	0.01	.	14.8363	0.70187	0.0:0.0:1.0:0.0	.	279;282;283	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	283;283;279	ENSP00000442896:L283M;ENSP00000346265:L283M	ENSP00000346265:L283M	L	-	1	2	SYT5	60377810	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.844000	0.55873	2.232000	0.73038	0.561000	0.74099	CTG		0.522	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		17	48	1	0	1.50039e-11	0.012319	2.10381e-11	17	48				
ZNF304	57343	broad.mit.edu	37	19	57867768	57867768	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:57867768A>G	ENST00000282286.5	+	3	704	c.531A>G	c.(529-531)ccA>ccG	p.P177P	ZNF304_ENST00000598744.1_Silent_p.P135P|ZNF304_ENST00000443917.2_Silent_p.P224P|ZNF304_ENST00000391705.3_Silent_p.P177P			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGACTTACCAGATAGCTCTG	0.517																																							uc010ygw.1		NA																	0				ovary(1)	1						c.(529-531)CCA>CCG		zinc finger protein 304							118.0	89.0	99.0					19																	57867768		2203	4300	6503	SO:0001819	synonymous_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867768A>G	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.531A>G	19.37:g.57867768A>G						ZNF304_uc010etw.2_Silent_p.P224P|ZNF304_uc010etx.2_Silent_p.P135P	p.P177P	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	919	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	177						Silent	SNP	ENST00000282286.5	37	c.531A>G	CCDS12950.1																																																																																				0.517	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			17	44	0	0	0	0.00333	0	17	44				
PREB	10113	broad.mit.edu	37	2	27354669	27354669	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:27354669T>C	ENST00000260643.2	-	8	1283	c.1030A>G	c.(1030-1032)Att>Gtt	p.I344V	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Missense_Mutation_p.I286V	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	344					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCACCACAATGCCATGGGCC	0.562																																							uc002rix.1		NA																	0				ovary(1)	1						c.(1030-1032)ATT>GTT		prolactin regulatory element binding protein							174.0	162.0	166.0					2																	27354669		2203	4300	6503	SO:0001583	missense	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27354669T>C		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.1030A>G	2.37:g.27354669T>C	ENSP00000260643:p.Ile344Val					PREB_uc002riy.1_Missense_Mutation_p.I272V|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.I286V	p.I344V	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN			8	1283	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		344			Cytoplasmic (Potential).		Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	c.1030A>G	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.08|15.08	2.725840|2.725840	0.48833|0.48833	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000456259|ENST00000260643;ENST00000406567;ENST00000546336	.|T;T	.|0.28895	.|1.59;5.06	5.16|5.16	2.55|2.55	0.30701|0.30701	.|WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.|0.057185	.|0.64402	.|D	.|0.000002	T|T	0.24661|0.24661	0.0598|0.0598	M|M	0.64567|0.64567	1.98|1.98	0.47153|0.47153	D|D	0.99933|0.99933	.|B;B	.|0.26876	.|0.071;0.162	.|B;B	.|0.24848	.|0.056;0.056	T|T	0.04242|0.04242	-1.0966|-1.0966	5|10	.|0.20519	.|T	.|0.43	-5.7501|-5.7501	5.175|5.175	0.15129|0.15129	0.1815:0.0:0.1891:0.6294|0.1815:0.0:0.1891:0.6294	.|.	.|286;344	.|B5MC98;Q9HCU5	.|.;PREB_HUMAN	R|V	87|344;286;344	.|ENSP00000260643:I344V;ENSP00000384032:I286V	.|ENSP00000260643:I344V	H|I	-|-	2|1	0|0	PREB|PREB	27208173|27208173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.552000|4.552000	0.60747|0.60747	0.769000|0.769000	0.33313|0.33313	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.562	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		45	128	0	0	0	0.01441	0	45	128				
FOSL2	2355	broad.mit.edu	37	2	28634930	28634930	+	Missense_Mutation	SNP	G	G	T	rs143327177		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:28634930G>T	ENST00000264716.4	+	4	1459	c.596G>T	c.(595-597)cGa>cTa	p.R199L	FOSL2_ENST00000545753.1_Missense_Mutation_p.R160L|FOSL2_ENST00000379619.1_Missense_Mutation_p.R191L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	199					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCGCCGATCGCCCCCA	0.642																																							uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(595-597)CGA>CTA		FOS-like antigen 2							34.0	37.0	36.0					2																	28634930		2201	4300	6501	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634930G>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.596G>T	2.37:g.28634930G>T	ENSP00000264716:p.Arg199Leu					FOSL2_uc010ymi.1_Missense_Mutation_p.R160L	p.R199L	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1405	+	Acute lymphoblastic leukemia(172;0.155)		199					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.596G>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042333	0.19748	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.77358	-1.09;-0.05;-1.04;-1.05	5.18	4.31	0.51392	.	.	.	.	.	T	0.69459	0.3113	L	0.50333	1.59	0.48571	D	0.999672	B	0.22414	0.069	B	0.17433	0.018	T	0.64166	-0.6471	9	0.28530	T	0.3	-16.2771	9.8494	0.41048	0.155:0.0:0.845:0.0	.	199	P15408	FOSL2_HUMAN	L	191;199;160;160	ENSP00000368939:R191L;ENSP00000264716:R199L;ENSP00000396497:R160L;ENSP00000439303:R160L	ENSP00000264716:R199L	R	+	2	0	FOSL2	28488434	1.000000	0.71417	0.831000	0.32960	0.463000	0.32649	3.917000	0.56424	1.405000	0.46838	0.655000	0.94253	CGA		0.642	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		24	34	1	0	6.38683e-12	0.008361	9.17996e-12	24	34				
ALK	238	broad.mit.edu	37	2	29430080	29430080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:29430080C>A	ENST00000389048.3	-	26	4801	c.3895G>T	c.(3895-3897)Gag>Tag	p.E1299*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATGAAGGCCTCTGGGGGCATC	0.522			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3895-3897)GAG>TAG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						91.0	87.0	88.0					2																	29430080		2203	4300	6503	SO:0001587	stop_gained	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29430080C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3895G>T	2.37:g.29430080C>A	ENSP00000373700:p.Glu1299*					ALK_uc010ymo.1_Nonsense_Mutation_p.E231*	p.E1299*	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			26	4802	-	Acute lymphoblastic leukemia(172;0.155)		1299			Protein kinase.|Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	ENST00000389048.3	37	c.3895G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	50	16.469433	0.99864	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.56	5.56	0.83823	.	0.000000	0.48286	D	0.000189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5177	0.95171	0.0:1.0:0.0:0.0	.	.	.	.	X	1299	.	.	E	-	1	0	ALK	29283584	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	7.814000	0.86154	2.625000	0.88918	0.650000	0.86243	GAG		0.522	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		24	43	1	0	7.92952e-12	0.003954	1.12408e-11	24	43				
LTBP1	4052	broad.mit.edu	37	2	33413709	33413709	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:33413709C>A	ENST00000404816.2	+	7	1845	c.1492C>A	c.(1492-1494)Cat>Aat	p.H498N	LTBP1_ENST00000407925.1_Missense_Mutation_p.H172N|LTBP1_ENST00000354476.3_Missense_Mutation_p.H498N|LTBP1_ENST00000418533.2_Missense_Mutation_p.H172N|LTBP1_ENST00000404525.1_Missense_Mutation_p.H172N|LTBP1_ENST00000390003.4_Missense_Mutation_p.H172N|LTBP1_ENST00000402934.1_Missense_Mutation_p.H172N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	498					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGTCCAGATACATCAGGTTTC	0.458																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1492-1494)CAT>AAT		latent transforming growth factor beta binding							99.0	94.0	96.0					2																	33413709		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33413709C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1492C>A	2.37:g.33413709C>A	ENSP00000386043:p.His498Asn					LTBP1_uc002rot.2_Missense_Mutation_p.H172N|LTBP1_uc002rou.2_Missense_Mutation_p.H172N|LTBP1_uc002rov.2_Missense_Mutation_p.H172N|LTBP1_uc010ymz.1_Missense_Mutation_p.H172N|LTBP1_uc010yna.1_Missense_Mutation_p.H172N	p.H498N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			7	1492	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	498					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1492C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039897	0.93630	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.84800	-1.9;-1.79;-1.62;-1.64;-1.62;-1.61;-1.6	5.68	5.68	0.88126	.	.	.	.	.	D	0.91968	0.7456	M	0.67700	2.07	0.80722	D	1	P;P;D;D;D;D	0.76494	0.947;0.936;0.999;0.969;0.982;0.969	P;B;D;P;P;P	0.75484	0.624;0.435;0.986;0.792;0.713;0.792	D	0.91940	0.5562	9	0.66056	D	0.02	.	19.8694	0.96845	0.0:1.0:0.0:0.0	.	498;172;172;172;172;498	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	N	498;498;187;172;172;172;172;172	ENSP00000386043:H498N;ENSP00000346467:H498N;ENSP00000374653:H172N;ENSP00000393057:H172N;ENSP00000384373:H172N;ENSP00000385359:H172N;ENSP00000384091:H172N	ENSP00000346467:H498N	H	+	1	0	LTBP1	33267213	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.191000	0.77763	2.714000	0.92807	0.549000	0.68633	CAT		0.458	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		26	47	1	0	5.61819e-17	0.005443	9.00306e-17	26	47				
CRIM1	51232	broad.mit.edu	37	2	36623783	36623783	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:36623783C>T	ENST00000280527.2	+	2	725	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	120					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGACCAACTGCTTGGTTTTAA	0.408																																							uc002rpd.2		NA																	0				ovary(2)|skin(1)	3						c.(358-360)CTT>TTT		cysteine-rich motor neuron 1 precursor							102.0	99.0	100.0					2																	36623783		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36623783C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.358C>T	2.37:g.36623783C>T	ENSP00000280527:p.Leu120Phe						p.L120F	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			2	397	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	120			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.358C>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661082	0.47572	.	.	ENSG00000150938	ENST00000280527	T	0.04551	3.6	5.25	4.36	0.52297	.	0.404642	0.23367	N	0.048942	T	0.04952	0.0133	L	0.44542	1.39	0.35198	D	0.774045	B	0.34103	0.437	B	0.27500	0.08	T	0.37454	-0.9705	10	0.15066	T	0.55	-5.3524	14.5011	0.67722	0.1473:0.8527:0.0:0.0	.	120	Q9NZV1	CRIM1_HUMAN	F	120	ENSP00000280527:L120F	ENSP00000280527:L120F	L	+	1	0	CRIM1	36477287	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.495000	0.53280	1.181000	0.42912	0.585000	0.79938	CTT		0.408	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		25	48	0	0	0	0.007291	0	25	48				
ABCG8	64241	broad.mit.edu	37	2	44102327	44102327	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:44102327T>C	ENST00000272286.2	+	11	1621	c.1531T>C	c.(1531-1533)Tac>Cac	p.Y511H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	511	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CATCATCATCTACGGGATGCC	0.562																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1531-1533)TAC>CAC		ATP-binding cassette sub-family G member 8							85.0	78.0	80.0					2																	44102327		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102327T>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1531T>C	2.37:g.44102327T>C	ENSP00000272286:p.Tyr511His					ABCG8_uc010yoa.1_Missense_Mutation_p.Y510H	p.Y511H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			11	1621	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	511			ABC transmembrane type-2.|Helical; Name=3; (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1531T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.119420	0.77323	.	.	ENSG00000143921	ENST00000272286	T	0.73152	-0.72	4.62	4.62	0.57501	ABC-2 type transporter (1);	0.059335	0.64402	D	0.000001	D	0.82577	0.5067	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	D	0.84433	0.0578	10	0.56958	D	0.05	.	14.0356	0.64642	0.0:0.0:0.0:1.0	.	510;511	Q9H221-2;Q9H221	.;ABCG8_HUMAN	H	511	ENSP00000272286:Y511H	ENSP00000272286:Y511H	Y	+	1	0	ABCG8	43955831	1.000000	0.71417	0.919000	0.36401	0.851000	0.48451	7.479000	0.81095	1.721000	0.51461	0.383000	0.25322	TAC		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		32	66	0	0	0	0.013726	0	32	66				
LHCGR	3973	broad.mit.edu	37	2	48915419	48915419	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:48915419C>A	ENST00000294954.7	-	11	1538	c.1517G>T	c.(1516-1518)aGc>aTc	p.S506I	LHCGR_ENST00000405626.1_Missense_Mutation_p.S479I|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.S444I|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	506					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CATGTAATTGCTGACACCGAC	0.443																																							uc002rwu.3		NA																	0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1516-1518)AGC>ATC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						117.0	110.0	112.0					2																	48915419		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915419C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1517G>T	2.37:g.48915419C>A	ENSP00000294954:p.Ser506Ile					GTF2A1L_uc002rwt.2_Intron	p.S506I	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1587	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	506			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1517G>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171722	0.78452	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.72835	-0.69;-0.69;-0.69	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.037514	0.85682	D	0.000000	D	0.90123	0.6914	H	0.97158	3.95	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.92849	0.6295	9	.	.	.	.	18.9999	0.92829	0.0:1.0:0.0:0.0	.	506	P22888	LSHR_HUMAN	I	444;506;479	ENSP00000344301:S444I;ENSP00000294954:S506I;ENSP00000386033:S479I	.	S	-	2	0	LHCGR	48768923	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.742000	0.94016	0.650000	0.86243	AGC		0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		13	65	1	0	4.36969e-10	0.001855	5.78144e-10	13	65				
USP34	9736	broad.mit.edu	37	2	61433248	61433248	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:61433248C>A	ENST00000398571.2	-	72	9134	c.9058G>T	c.(9058-9060)Gca>Tca	p.A3020S	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3020					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGATTAATGCTTGTTTCACA	0.353																																							uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9058-9060)GCA>TCA		ubiquitin specific protease 34							93.0	88.0	90.0					2																	61433248		1837	4087	5924	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433248C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9058G>T	2.37:g.61433248C>A	ENSP00000381577:p.Ala3020Ser					USP34_uc002sbd.2_5'UTR	p.A3020S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		72	9080	-			3020					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9058G>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.986777|2.986777	0.53934|0.53934	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.30981|.	1.51|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Armadillo-type fold (1);|.	0.048459|.	0.85682|.	D|.	0.000000|.	T|T	0.43919|0.43919	0.1269|0.1269	N|N	0.03324|0.03324	-0.35|-0.35	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	D|.	0.68192|.	0.956|.	T|T	0.40478|0.40478	-0.9561|-0.9561	10|5	0.25106|.	T|.	0.35|.	.|.	20.1243|20.1243	0.97973|0.97973	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3020|.	Q70CQ2|.	UBP34_HUMAN|.	S|I	2868;2785;3020|779	ENSP00000381577:A3020S|.	ENSP00000263989:A2868S|.	A|S	-|-	1|2	0|0	USP34|USP34	61286752|61286752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.722000|7.722000	0.84778|0.84778	2.823000|2.823000	0.97156|0.97156	0.591000|0.591000	0.81541|0.81541	GCA|AGC		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			14	40	1	0	1.37522e-17	0.007413	2.2245e-17	14	40				
CTNNA2	1496	broad.mit.edu	37	2	80831229	80831229	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:80831229T>A	ENST00000402739.4	+	15	2225	c.2220T>A	c.(2218-2220)gaT>gaA	p.D740E	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D740E|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D419E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D740E|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D740E|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D774E|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D740E	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	740					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATACATCTGATGTCATTAATG	0.423																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2218-2220)GAT>GAA		catenin, alpha 2 isoform 1							96.0	87.0	90.0					2																	80831229		1883	4131	6014	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80831229T>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2220T>A	2.37:g.80831229T>A	ENSP00000384638:p.Asp740Glu					CTNNA2_uc010yse.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysf.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysg.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysi.1_Missense_Mutation_p.D372E|CTNNA2_uc010ysj.1_Missense_Mutation_p.D69E	p.D740E	NM_004389	NP_004380	P26232	CTNA2_HUMAN			15	2225	+			740					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2220T>A		.	.	.	.	.	.	.	.	.	.	T	20.7	4.036412	0.75617	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.75	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.84219	2.685	0.80722	D	1	B;D;P;D	0.89917	0.205;1.0;0.675;0.982	B;D;B;P	0.97110	0.108;1.0;0.365;0.767	T	0.78458	-0.2196	9	.	.	.	.	12.0195	0.53336	0.0:0.0688:0.0:0.9312	.	372;740;740;740	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	E	740;740;774;740;740;740;419	ENSP00000418191:D740E;ENSP00000419295:D740E;ENSP00000355398:D774E;ENSP00000384638:D740E;ENSP00000444675:D740E;ENSP00000441705:D740E;ENSP00000341500:D419E	.	D	+	3	2	CTNNA2	80684740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.120000	0.64685	2.191000	0.70037	0.533000	0.62120	GAT		0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		15	28	0	0	0	0.00499	0	15	28				
COX5B	1329	broad.mit.edu	37	2	98263849	98263849	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:98263849A>G	ENST00000258424.2	+	3	267	c.220A>G	c.(220-222)Agg>Ggg	p.R74G	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	74					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TTCAGGCACCAGGGAAGACCC	0.393																																							uc002sya.2		NA																	0					0						c.(220-222)AGG>GGG		cytochrome c oxidase subunit Vb precursor							141.0	152.0	148.0					2																	98263849		2203	4300	6503	SO:0001583	missense	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98263849A>G	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.220A>G	2.37:g.98263849A>G	ENSP00000258424:p.Arg74Gly						p.R74G	NM_001862	NP_001853	P10606	COX5B_HUMAN			3	249	+			74					Q53YB7|Q96J18|Q99610	Missense_Mutation	SNP	ENST00000258424.2	37	c.220A>G	CCDS2032.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209644	0.58343	.	.	ENSG00000135940	ENST00000258424	.	.	.	5.43	4.26	0.50523	.	0.145914	0.64402	D	0.000012	T	0.41627	0.1167	L	0.46157	1.445	0.22240	N	0.999268	B	0.25235	0.121	B	0.27380	0.079	T	0.42224	-0.9464	9	0.87932	D	0	-35.6977	10.1402	0.42730	0.8508:0.0:0.0:0.1492	.	74	P10606	COX5B_HUMAN	G	74	.	ENSP00000258424:R74G	R	+	1	2	COX5B	97630281	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	4.541000	0.60670	0.885000	0.36088	0.397000	0.26171	AGG		0.393	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		26	65	0	0	0	0.00632	0	26	65				
SCTR	6344	broad.mit.edu	37	2	120209622	120209622	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:120209622C>A	ENST00000019103.5	-	9	1152	c.885G>T	c.(883-885)tgG>tgT	p.W295C		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	295					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GAATGATCCACCAGATGGATG	0.587																																							uc002tma.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(883-885)TGG>TGT		secretin receptor precursor	Secretin(DB00021)						142.0	102.0	115.0					2																	120209622		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120209622C>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.885G>T	2.37:g.120209622C>A	ENSP00000019103:p.Trp295Cys					SCTR_uc002tlz.2_Missense_Mutation_p.W117C	p.W295C	NM_002980	NP_002971	P47872	SCTR_HUMAN			9	1111	-			295			Helical; Name=5; (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.885G>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417761	0.83449	.	.	ENSG00000080293	ENST00000019103	T	0.37411	1.2	5.33	5.33	0.75918	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000039	T	0.73289	0.3568	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82149	-0.0600	10	0.87932	D	0	.	18.1981	0.89829	0.0:1.0:0.0:0.0	.	295	P47872	SCTR_HUMAN	C	295	ENSP00000019103:W295C	ENSP00000019103:W295C	W	-	3	0	SCTR	119926092	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.542000	0.60677	2.775000	0.95449	0.655000	0.94253	TGG		0.587	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			14	26	1	0	1.99824e-07	0.00499	2.4204e-07	14	26				
SCTR	6344	broad.mit.edu	37	2	120219492	120219492	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:120219492G>A	ENST00000019103.5	-	7	988	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	241					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGAGTGTGTGAAGGTAGAGG	0.542																																							uc002tma.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(721-723)CAC>TAC		secretin receptor precursor	Secretin(DB00021)						120.0	104.0	110.0					2																	120219492		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120219492G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.721C>T	2.37:g.120219492G>A	ENSP00000019103:p.His241Tyr					SCTR_uc002tlz.2_Missense_Mutation_p.H63Y	p.H241Y	NM_002980	NP_002971	P47872	SCTR_HUMAN			7	947	-			241			Cytoplasmic (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.721C>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006899	0.74932	.	.	ENSG00000080293	ENST00000019103	T	0.20738	2.05	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000041	T	0.38081	0.1027	M	0.63843	1.955	0.46167	D	0.998902	P	0.46952	0.887	P	0.53722	0.733	T	0.03945	-1.0990	10	0.45353	T	0.12	.	17.7359	0.88392	0.0:0.0:1.0:0.0	.	241	P47872	SCTR_HUMAN	Y	241	ENSP00000019103:H241Y	ENSP00000019103:H241Y	H	-	1	0	SCTR	119935962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.949000	0.70257	2.647000	0.89833	0.655000	0.94253	CAC		0.542	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			18	94	0	0	0	0.006122	0	18	94				
CFC1	55997	broad.mit.edu	37	2	131356267	131356267	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:131356267G>A	ENST00000259216.4	-	3	457	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	65					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CCCAGCCCTCGGCGCTCCCAG	0.632																																							uc002tro.1		NA																	0					0						c.(193-195)GCC>GCT		cripto, FRL-1, cryptic family 1B							21.0	35.0	30.0					2																	131356267		2180	4270	6450	SO:0001819	synonymous_variant	653275				gastrulation	extracellular region		g.chr2:131356267G>A	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.195C>T	2.37:g.131356267G>A							p.A65A	NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN			3	586	-	Colorectal(110;0.1)		65					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Silent	SNP	ENST00000259216.4	37	c.195C>T	CCDS2162.1																																																																																				0.632	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		7	63	0	0	0	0.00499	0	7	63				
POTEE	445582	broad.mit.edu	37	2	131984486	131984486	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:131984486C>A	ENST00000356920.5	+	4	995	c.901C>A	c.(901-903)Ctg>Atg	p.L301M	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|RNU6-127P_ENST00000390897.1_RNA|POTEE_ENST00000358087.5_Missense_Mutation_p.L311M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	301					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTTAAATGCACTGGATAGATA	0.328																																							uc002tsn.2		NA																	0					0						c.(901-903)CTG>ATG		protein expressed in prostate, ovary, testis,							64.0	76.0	72.0					2																	131984486		1491	2695	4186	SO:0001583	missense	445582						ATP binding	g.chr2:131984486C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.901C>A	2.37:g.131984486C>A	ENSP00000439189:p.Leu301Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	p.L301M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			4	953	+			301					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.901C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794444	0.16327	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.64803	0.57;-0.12	1.16	-1.37	0.09056	Ankyrin repeat-containing domain (4);	24.986900	0.01256	U	0.009002	T	0.45756	0.1358	L	0.27053	0.805	0.09310	N	1	B	0.28605	0.217	B	0.19946	0.027	T	0.31806	-0.9930	10	0.87932	D	0	.	2.9196	0.05765	0.0:0.3098:0.3941:0.2961	.	301	Q6S8J3	POTEE_HUMAN	M	301;311	ENSP00000439189:L301M;ENSP00000443049:L311M	ENSP00000439189:L301M	L	+	1	2	AC131180.1	131700956	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.436000	0.06922	-0.460000	0.07003	0.162000	0.16502	CTG		0.328	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		8	59	1	0	2.17888e-05	0.006214	2.47099e-05	8	59				
CCDC74A	90557	broad.mit.edu	37	2	132290881	132290881	+	Silent	SNP	A	A	G	rs189219021		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:132290881A>G	ENST00000295171.6	+	8	1185	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.A283A	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	349										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCTGCCCGCACTGAAGCAGA	0.637																																							uc002tta.2		NA																	0				skin(1)	1						c.(1045-1047)GCA>GCG		coiled-coil domain containing 74A							42.0	39.0	40.0					2																	132290881		2203	4299	6502	SO:0001819	synonymous_variant	90557							g.chr2:132290881A>G		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.1047A>G	2.37:g.132290881A>G						CCDC74A_uc002ttb.2_Silent_p.A283A	p.A349A	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			8	1099	+			349					Q6P4I5	Silent	SNP	ENST00000295171.6	37	c.1047A>G	CCDS2167.1																																																																																				0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		13	20	0	0	0	0.001855	0	13	20				
LRP1B	53353	broad.mit.edu	37	2	141707960	141707960	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:141707960C>A	ENST00000389484.3	-	20	3951	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	994	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCCCGTCCCCACAGTCGTCA	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2980-2982)GGG>TGG		low density lipoprotein-related protein 1B							99.0	71.0	81.0					2																	141707960		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707960C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2980G>T	2.37:g.141707960C>A	ENSP00000374135:p.Gly994Trp	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.G176W	p.G994W	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	20	3952	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	994			Extracellular (Potential).|LDL-receptor class A 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2980G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974033	0.92919	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95656	-3.77;-3.77	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98015	0.9346	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.97985	1.0351	10	0.56958	D	0.05	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	177;994	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	W	994;932;139	ENSP00000374135:G994W;ENSP00000413239:G139W	ENSP00000374135:G994W	G	-	1	0	LRP1B	141424430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.758000	0.94735	0.563000	0.77884	GGG		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	31	1	0	8.28177e-16	0.007413	1.29497e-15	14	31				
KCNJ3	3760	broad.mit.edu	37	2	155555636	155555636	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:155555636G>T	ENST00000295101.2	+	1	826	c.349G>T	c.(349-351)Gtc>Ttc	p.V117F	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.V117F	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	117					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAAAGCCCACGTCGGTAACTA	0.552																																							uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(349-351)GTC>TTC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						152.0	119.0	130.0					2																	155555636		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555636G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.349G>T	2.37:g.155555636G>T	ENSP00000295101:p.Val117Phe					KCNJ3_uc010zce.1_Missense_Mutation_p.V117F	p.V117F	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	544	+			117			Extracellular (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.349G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266375	0.59540	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.93859	-3.3;-3.3	5.16	5.16	0.70880	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.294743	0.23732	U	0.045111	D	0.91640	0.7358	N	0.14661	0.345	0.37367	D	0.911469	B;B	0.27732	0.187;0.187	P;P	0.44897	0.463;0.463	D	0.92199	0.5766	10	0.66056	D	0.02	.	17.1982	0.86899	0.0:0.0:1.0:0.0	.	117;117	B4DEW7;P48549	.;IRK3_HUMAN	F	117	ENSP00000295101:V117F;ENSP00000438410:V117F	ENSP00000295101:V117F	V	+	1	0	KCNJ3	155263882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.713000	0.84693	2.404000	0.81709	0.555000	0.69702	GTC		0.552	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		15	43	1	0	4.7546e-09	0.004007	6.13344e-09	15	43				
KCNJ3	3760	broad.mit.edu	37	2	155711758	155711758	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:155711758G>T	ENST00000295101.2	+	3	1916	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	480					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGGCTGGAGGAGCAGCTAGG	0.423																																							uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1438-1440)GGA>GTA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						30.0	31.0	31.0					2																	155711758		2203	4299	6502	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711758G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1439G>T	2.37:g.155711758G>T	ENSP00000295101:p.Gly480Val					KCNJ3_uc010zce.1_3'UTR	p.G480V	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1634	+			480			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1439G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362623	0.41902	.	.	ENSG00000162989	ENST00000295101	D	0.89050	-2.46	5.66	5.66	0.87406	.	0.371966	0.29646	N	0.011567	T	0.81856	0.4911	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.74607	-0.3609	10	0.33141	T	0.24	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	480	P48549	IRK3_HUMAN	V	480	ENSP00000295101:G480V	ENSP00000295101:G480V	G	+	2	0	KCNJ3	155420004	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GGA		0.423	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		8	15	1	0	3.09899e-07	0.004482	3.72745e-07	8	15				
LY75	4065	broad.mit.edu	37	2	160690611	160690611	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:160690611T>C	ENST00000263636.4	-	27	3812	c.3785A>G	c.(3784-3786)aAg>aGg	p.K1262R	LY75_ENST00000554112.1_Missense_Mutation_p.K1262R|LY75_ENST00000553424.1_Missense_Mutation_p.K1262R|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1262R|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1262R	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1262	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGCCTATTCTTTGTTATTAT	0.353																																							uc002ubc.3		NA																	0					0						c.(3784-3786)AAG>AGG		lymphocyte antigen 75 precursor							153.0	137.0	142.0					2																	160690611		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160690611T>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3785A>G	2.37:g.160690611T>C	ENSP00000263636:p.Lys1262Arg					LY75_uc002ubb.3_Missense_Mutation_p.K1262R|LY75_uc010fos.2_Missense_Mutation_p.K1262R	p.K1262R	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	27	3854	-			1262			Extracellular (Potential).|C-type lectin 8.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.3785A>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323256	0.41096	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	5.64	3.1	0.35709	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.230527	0.21747	U	0.069734	T	0.07503	0.0189	L	0.43923	1.385	0.20926	N	0.999828	P;P;P	0.44429	0.835;0.561;0.763	B;B;B	0.42522	0.39;0.086;0.311	T	0.23976	-1.0173	10	0.20046	T	0.44	-6.0435	6.3237	0.21232	0.0:0.0828:0.1594:0.7578	.	1262;1262;1262	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	R	1262	ENSP00000451511:K1262R;ENSP00000451446:K1262R;ENSP00000263636:K1262R;ENSP00000423463:K1262R;ENSP00000421035:K1262R	ENSP00000423463:K1262R	K	-	2	0	LY75;LY75-CD302	160398857	0.983000	0.35010	0.462000	0.27118	0.607000	0.37147	1.903000	0.39858	1.069000	0.40788	0.533000	0.62120	AAG		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			14	32	0	0	0	0.004007	0	14	32				
LRP2	4036	broad.mit.edu	37	2	170062546	170062546	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:170062546C>A	ENST00000263816.3	-	40	7828	c.7543G>T	c.(7543-7545)Gat>Tat	p.D2515Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2515					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)"""	TGGCAGGGATCTAACACAATT	0.423																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7543-7545)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)						146.0	142.0	143.0					2																	170062546		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.chr2:170062546C>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.7543G>T	2.37:g.170062546C>A	ENSP00000263816:p.Asp2515Tyr						p.D2515Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7756	-			2515			LDL-receptor class B 26.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7543G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857872	0.91433	.	.	ENSG00000081479	ENST00000263816	D	0.93604	-3.25	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.043732	0.85682	D	0.000000	D	0.97059	0.9039	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96696	0.9514	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2515	P98164	LRP2_HUMAN	Y	2515	ENSP00000263816:D2515Y	ENSP00000263816:D2515Y	D	-	1	0	LRP2	169770792	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		33	104	1	0	3.62531e-18	0.004289	5.90113e-18	33	104				
WIPF1	7456	broad.mit.edu	37	2	175436932	175436932	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:175436932G>C	ENST00000392547.2	-	5	700	c.601C>G	c.(601-603)Cgg>Ggg	p.R201G	WIPF1_ENST00000392546.2_Missense_Mutation_p.R201G|WIPF1_ENST00000409415.3_Missense_Mutation_p.R201G|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.R201G|WIPF1_ENST00000272746.5_Missense_Mutation_p.R201G|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.R201G	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGGACCCCCGGTTGTGCGGA	0.657																																							uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(601-603)CGG>GGG		WAS/WASL interacting protein family, member 1																																				SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436932G>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.601C>G	2.37:g.175436932G>C	ENSP00000376330:p.Arg201Gly					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201G|WIPF1_uc010fqt.1_Missense_Mutation_p.R201G|WIPF1_uc002ujc.1_Missense_Mutation_p.R201G|WIPF1_uc002uiz.2_Missense_Mutation_p.R201G|WIPF1_uc002ujb.1_Missense_Mutation_p.R201G|WIPF1_uc010zep.1_Missense_Mutation_p.R201G	p.R201G	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	933	-			201					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.601C>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459890	0.43736	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.50277	1.46;1.45;1.46;1.46;0.86;0.75	5.02	5.02	0.67125	.	0.072732	0.53938	D	0.000048	T	0.38904	0.1058	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.25048	0.117;0.071;0.117;0.071	B;B;B;B	0.21360	0.034;0.015;0.034;0.015	T	0.18023	-1.0350	10	0.26408	T	0.33	.	12.9658	0.58483	0.0:0.0:0.838:0.162	.	201;201;201;201	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	G	201	ENSP00000376330:R201G;ENSP00000272746:R201G;ENSP00000352802:R201G;ENSP00000376329:R201G;ENSP00000386431:R201G;ENSP00000387150:R201G	ENSP00000272746:R201G	R	-	1	2	WIPF1	175145178	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	2.232000	0.43018	2.331000	0.79229	0.511000	0.50034	CGG		0.657	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		36	135	0	0	0	0.011902	0	36	135				
SSFA2	6744	broad.mit.edu	37	2	182766646	182766646	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:182766646G>C	ENST00000431877.2	+	8	1045	c.866G>C	c.(865-867)aGt>aCt	p.S289T	SSFA2_ENST00000409001.1_Missense_Mutation_p.S289T|SSFA2_ENST00000320370.7_Missense_Mutation_p.S289T|SSFA2_ENST00000428267.2_Missense_Mutation_p.S136T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	289						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTAACTCGAAGTAACACTGCA	0.418																																							uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(865-867)AGT>ACT		sperm specific antigen 2 isoform 1							64.0	64.0	64.0					2																	182766646		2203	4299	6502	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766646G>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.866G>C	2.37:g.182766646G>C	ENSP00000388731:p.Ser289Thr					SSFA2_uc002uoh.2_Missense_Mutation_p.S289T|SSFA2_uc002uoj.2_Missense_Mutation_p.S289T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S136T|SSFA2_uc002uol.2_Missense_Mutation_p.S136T	p.S289T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1188	+			289					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.866G>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580203	0.65992	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.16324	2.58;2.35;2.57;2.57	5.66	4.77	0.60923	.	0.483083	0.24463	N	0.038301	T	0.34337	0.0894	M	0.73598	2.24	0.32027	N	0.599986	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.63488	0.915;0.915;0.915;0.915	T	0.39623	-0.9605	10	0.16896	T	0.51	-15.8436	10.3594	0.43984	0.0695:0.0:0.7944:0.1361	.	136;289;289;289	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	T	289;289;289;136	ENSP00000388731:S289T;ENSP00000314669:S289T;ENSP00000387319:S289T;ENSP00000409867:S136T	ENSP00000314669:S289T	S	+	2	0	SSFA2	182474891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.482000	0.60257	1.488000	0.48433	0.650000	0.86243	AGT		0.418	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		16	35	0	0	0	0.004007	0	16	35				
PARD3B	117583	broad.mit.edu	37	2	205986319	205986319	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:205986319C>A	ENST00000406610.2	+	8	1018	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	PARD3B_ENST00000351153.1_Missense_Mutation_p.Q271K|PARD3B_ENST00000349953.3_Missense_Mutation_p.Q271K|PARD3B_ENST00000462231.1_Missense_Mutation_p.Q271K|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q271K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	271	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCCAGGGCTCAAGATGTCTT	0.483																																							uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(811-813)CAA>AAA		par-3 partitioning defective 3 homolog B isoform							109.0	111.0	110.0					2																	205986319		1988	4159	6147	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205986319C>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.811C>A	2.37:g.205986319C>A	ENSP00000385848:p.Gln271Lys					PARD3B_uc010fub.1_Missense_Mutation_p.Q271K|PARD3B_uc002vao.1_Missense_Mutation_p.Q271K|PARD3B_uc002vap.1_Missense_Mutation_p.Q271K|PARD3B_uc002vaq.1_Missense_Mutation_p.Q271K	p.Q271K	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	8	1018	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	271			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.811C>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.950914	0.92660	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	6.16	6.16	0.99307	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.84433	2.695	0.80722	D	1	D;D;P;D;D	0.71674	0.993;0.995;0.942;0.998;0.998	D;D;P;D;D	0.87578	0.985;0.977;0.764;0.998;0.998	D	0.89500	0.3763	10	0.30854	T	0.27	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	271;271;271;271;271	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	K	271	ENSP00000385848:Q271K;ENSP00000351618:Q271K;ENSP00000317261:Q271K;ENSP00000340280:Q271K	ENSP00000340280:Q271K	Q	+	1	0	PARD3B	205694564	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	CAA		0.483	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		13	108	1	0	0.00074312	0.006122	0.000795539	13	108				
INO80D	54891	broad.mit.edu	37	2	206872011	206872011	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:206872011C>G	ENST00000403263.1	-	10	2319	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E639K(1)|p.E534K(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACTATACCTTCAAAAAAATCA	0.348																																							uc002vaz.3		NA																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1915-1917)GAA>CAA		INO80 complex subunit D							57.0	56.0	56.0					2																	206872011		1840	4090	5930	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206872011C>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1915G>C	2.37:g.206872011C>G	ENSP00000384198:p.Glu639Gln						p.E639Q	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			10	2320	-			639					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1915G>C	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024846	0.93518	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.39056	1.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.63506	-0.6622	10	0.56958	D	0.05	.	19.3371	0.94324	0.0:1.0:0.0:0.0	.	639	Q53TQ3-2	.	Q	639	ENSP00000384198:E639Q	ENSP00000233270:E639Q	E	-	1	0	INO80D	206580256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.567000	0.86603	0.561000	0.74099	GAA		0.348	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		9	20	0	0	0	0.008291	0	9	20				
C2orf80	389073	broad.mit.edu	37	2	209051687	209051687	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:209051687C>T	ENST00000341287.4	-	2	219	c.24G>A	c.(22-24)aaG>aaA	p.K8K	C2orf80_ENST00000451346.1_Intron|C2orf80_ENST00000453017.1_Silent_p.K8K	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	8										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TTTTCATTTCCTTCTTTATGA	0.423																																							uc002vcr.2		NA																	0				skin(1)	1						c.(22-24)AAG>AAA		hypothetical protein LOC389073							162.0	153.0	156.0					2																	209051687		1865	4121	5986	SO:0001819	synonymous_variant	389073							g.chr2:209051687C>T	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.24G>A	2.37:g.209051687C>T							p.K8K	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			2	196	-			8					A6NKZ3	Silent	SNP	ENST00000341287.4	37	c.24G>A	CCDS42809.1																																																																																				0.423	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		14	23	0	0	0	0.007413	0	14	23				
CPS1	1373	broad.mit.edu	37	2	211481168	211481168	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:211481168C>A	ENST00000233072.5	+	21	2786	c.2590C>A	c.(2590-2592)Ctt>Att	p.L864I	CPS1_ENST00000451903.2_Missense_Mutation_p.L413I|CPS1_ENST00000430249.2_Missense_Mutation_p.L870I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	864					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L864I(2)|p.L870I(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAACATGTCCCTTGATGAGAT	0.363																																							uc002vee.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2590-2592)CTT>ATT		carbamoyl-phosphate synthetase 1 isoform b							167.0	164.0	165.0					2																	211481168		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481168C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2590C>A	2.37:g.211481168C>A	ENSP00000233072:p.Leu864Ile					CPS1_uc010fur.2_Missense_Mutation_p.L870I|CPS1_uc010fus.2_Missense_Mutation_p.L413I|LOC29034_uc002vef.2_5'Flank	p.L864I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2722	+			864					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2590C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461750	0.26248	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96168	-3.93;-3.93;-3.93	5.52	4.62	0.57501	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.178222	0.49916	N	0.000126	D	0.84906	0.5576	N	0.02158	-0.66	0.31464	N	0.669266	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.80327	-0.1429	10	0.24483	T	0.36	-5.6572	9.18	0.37136	0.37:0.4921:0.1379:0.0	.	874;864	Q59HF8;P31327	.;CPSM_HUMAN	I	870;872;864;413	ENSP00000402608:L870I;ENSP00000233072:L864I;ENSP00000406136:L413I	ENSP00000233072:L864I	L	+	1	0	CPS1	211189413	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.522000	0.53480	1.404000	0.46819	0.655000	0.94253	CTT		0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			17	60	1	0	3.08376e-08	0.00333	3.85284e-08	17	60				
VWC2L	402117	broad.mit.edu	37	2	215440422	215440422	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:215440422A>G	ENST00000312504.5	+	4	1349	c.547A>G	c.(547-549)Ata>Gta	p.I183V	VWC2L_ENST00000427124.1_Silent_p.R139R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	183					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AGGAACGACGATAATTCCAGC	0.463																																							uc002vet.2		NA																	0					0						c.(547-549)ATA>GTA		von Willebrand factor C domain-containing							203.0	194.0	197.0					2																	215440422		1983	4201	6184	SO:0001583	missense	402117					extracellular region		g.chr2:215440422A>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.547A>G	2.37:g.215440422A>G	ENSP00000308976:p.Ile183Val					VWC2L_uc010zjl.1_Silent_p.R139R	p.I183V	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			4	677	+			183					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.547A>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	A	6.336	0.430012	0.11987	.	.	ENSG00000174453	ENST00000312504	T	0.45276	0.9	5.78	5.78	0.91487	.	.	.	.	.	T	0.20577	0.0495	N	0.03608	-0.345	0.80722	D	1	B	0.16802	0.019	B	0.22152	0.038	T	0.15263	-1.0443	9	0.02654	T	1	-1.423	16.1205	0.81351	1.0:0.0:0.0:0.0	.	183	B2RUY7	VWC2L_HUMAN	V	183	ENSP00000308976:I183V	ENSP00000308976:I183V	I	+	1	0	VWC2L	215148667	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.900000	0.92551	2.205000	0.71048	0.533000	0.62120	ATA		0.463	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		48	119	0	0	0	0.01441	0	48	119				
RNF25	64320	broad.mit.edu	37	2	219532829	219532829	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:219532829C>A	ENST00000295704.2	-	4	700	c.260G>T	c.(259-261)cGa>cTa	p.R87L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	87	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R87L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGTCCTCGGGGATTTCG	0.512																																							uc002vit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(259-261)CGA>CTA		ring finger protein 25							221.0	235.0	230.0					2																	219532829		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219532829C>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.260G>T	2.37:g.219532829C>A	ENSP00000295704:p.Arg87Leu					RNF25_uc010fvw.2_5'UTR	p.R87L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	348	-		Renal(207;0.0474)	87			RWD.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.260G>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046775	0.93740	.	.	ENSG00000163481	ENST00000295704	T	0.21932	1.98	5.25	5.25	0.73442	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56986	-0.7888	10	0.72032	D	0.01	-10.1391	19.0938	0.93240	0.0:1.0:0.0:0.0	.	87	Q96BH1	RNF25_HUMAN	L	87	ENSP00000295704:R87L	ENSP00000295704:R87L	R	-	2	0	RNF25	219241073	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.441000	0.73439	2.753000	0.94483	0.456000	0.33151	CGA		0.512	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		119	219	1	0	6.08857e-40	0.01441	1.09467e-39	119	219				
ESPNL	339768	broad.mit.edu	37	2	239040110	239040110	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:239040110T>A	ENST00000343063.3	+	9	3018	c.2755T>A	c.(2755-2757)Ttc>Atc	p.F919I	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.F551I|ESPNL_ENST00000409169.1_Missense_Mutation_p.F875I	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	919										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACCGACGGCTTCGAGGACAT	0.711																																							uc002vxq.3		NA																	0				pancreas(1)	1						c.(2755-2757)TTC>ATC		espin-like							11.0	14.0	13.0					2																	239040110		2169	4246	6415	SO:0001583	missense	339768							g.chr2:239040110T>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2755T>A	2.37:g.239040110T>A	ENSP00000339115:p.Phe919Ile					ESPNL_uc010fyw.2_Missense_Mutation_p.F615I	p.F919I	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	2865	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	919					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2755T>A	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.017830	0.93404	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.78246	-1.16;-0.11;-0.34	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	D	0.84624	0.5513	M	0.72118	2.19	0.58432	D	0.999993	D;D	0.61697	0.99;0.983	P;P	0.59546	0.859;0.727	D	0.86678	0.1915	10	0.87932	D	0	-14.1053	13.2112	0.59825	0.0:0.0:0.0:1.0	.	875;919	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	I	919;875;551	ENSP00000339115:F919I;ENSP00000386577:F875I;ENSP00000386579:F551I	ENSP00000339115:F919I	F	+	1	0	ESPNL	238704849	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.095000	0.71439	1.768000	0.52137	0.377000	0.23210	TTC		0.711	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		8	12	0	0	0	0.008291	0	8	12				
RSPO4	343637	broad.mit.edu	37	20	947845	947845	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:947845C>A	ENST00000217260.4	-	3	477	c.381G>T	c.(379-381)ttG>ttT	p.L127F	RSPO4_ENST00000400634.2_Missense_Mutation_p.L127F	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	127					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCTGGTGGGCCAAAGTGCCCG	0.637																																							uc002wej.2		NA																	0					0						c.(379-381)TTG>TTT		R-spondin family, member 4 isoform 1 precursor							42.0	42.0	42.0					20																	947845		1949	4143	6092	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:947845C>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.381G>T	20.37:g.947845C>A	ENSP00000217260:p.Leu127Phe					RSPO4_uc002wek.2_Missense_Mutation_p.L127F	p.L127F	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			3	478	-			127			FU.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.381G>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	4.706	0.131273	0.08981	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	T;T	0.76968	-1.06;-1.06	5.21	-1.25	0.09405	Growth factor, receptor (1);	1.935840	0.02629	N	0.104069	T	0.56366	0.1980	N	0.03115	-0.41	0.09310	N	0.999998	B;P	0.44380	0.189;0.834	B;B	0.42422	0.16;0.387	T	0.52396	-0.8581	10	0.16896	T	0.51	-23.9652	6.9077	0.24319	0.1193:0.5702:0.0:0.3105	.	127;127	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	F	127	ENSP00000217260:L127F;ENSP00000383475:L127F	ENSP00000217260:L127F	L	-	3	2	RSPO4	895845	0.000000	0.05858	0.088000	0.20740	0.849000	0.48306	-0.537000	0.06128	-0.048000	0.13401	0.455000	0.32223	TTG		0.637	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		23	47	1	0	2.89027e-11	0.014323	3.97701e-11	23	47				
CPXM1	56265	broad.mit.edu	37	20	2775049	2775049	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:2775049C>G	ENST00000380605.2	-	14	2056	c.1992G>C	c.(1990-1992)ctG>ctC	p.L664L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	664					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCCTGGGGTCAGCAGACGCC	0.587																																							uc002wgu.2		NA																	0				ovary(2)|skin(2)	4						c.(1990-1992)CTG>CTC		carboxypeptidase X, member 1 precursor							56.0	54.0	55.0					20																	2775049		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775049C>G	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1992G>C	20.37:g.2775049C>G						CPXM1_uc010gas.2_Silent_p.L590L	p.L664L	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			14	2056	-			664					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.1992G>C	CCDS13033.1																																																																																				0.587	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		15	45	0	0	0	0.006122	0	15	45				
BPIFB6	128859	broad.mit.edu	37	20	31625383	31625383	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:31625383C>A	ENST00000349552.1	+	8	685	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	229						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGTGCAGCAGCAAAAGGGCAA	0.607																																							uc010zuc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(685-687)CAA>AAA		bactericidal/permeability-increasing							75.0	66.0	69.0					20																	31625383		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31625383C>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.685C>A	20.37:g.31625383C>A	ENSP00000344929:p.Gln229Lys					BPIL3_uc010zud.1_Missense_Mutation_p.Q168K	p.Q229K	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			8	685	+			229						Missense_Mutation	SNP	ENST00000349552.1	37	c.685C>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386540	0.04966	.	.	ENSG00000167104	ENST00000349552	T	0.01178	5.22	4.01	1.9	0.25705	.	0.725930	0.12023	N	0.506665	T	0.01627	0.0052	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.20519	T	0.43	.	6.8628	0.24076	0.1981:0.6098:0.1921:0.0	.	229	Q8NFQ5	BPIB6_HUMAN	K	229	ENSP00000344929:Q229K	ENSP00000344929:Q229K	Q	+	1	0	BPIFB6	31089044	0.005000	0.15991	0.033000	0.17914	0.698000	0.40448	0.253000	0.18296	0.874000	0.35823	0.561000	0.74099	CAA		0.607	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		24	47	1	0	3.73148e-12	0.007291	5.40855e-12	24	47				
SPAG4	6676	broad.mit.edu	37	20	34203957	34203957	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:34203957C>T	ENST00000374273.3	+	1	144	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	11					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGCTCGGCCTCGTCCTCGCGC	0.677																																							uc002xdb.1		NA																	0					0						c.(31-33)TCG>TTG		sperm associated antigen 4							22.0	24.0	24.0					20																	34203957		2195	4289	6484	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34203957C>T	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.32C>T	20.37:g.34203957C>T	ENSP00000363391:p.Ser11Leu					SPAG4_uc010zvi.1_5'UTR	p.S11L	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	149	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		11					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.32C>T	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279977	0.40294	.	.	ENSG00000061656	ENST00000374273	T	0.18657	2.2	4.72	3.78	0.43462	.	0.636739	0.15014	N	0.285392	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.19160	-1.0314	10	0.46703	T	0.11	-10.3202	8.5448	0.33415	0.0:0.8957:0.0:0.1043	.	11	Q9NPE6	SPAG4_HUMAN	L	11	ENSP00000363391:S11L	ENSP00000363391:S11L	S	+	2	0	SPAG4	33667371	0.000000	0.05858	0.123000	0.21794	0.369000	0.29798	0.731000	0.26058	1.224000	0.43551	0.561000	0.74099	TCG		0.677	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		18	20	0	0	0	0.012319	0	18	20				
ELMO2	63916	broad.mit.edu	37	20	45003949	45003949	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:45003949T>C	ENST00000290246.6	-	13	1185	c.991A>G	c.(991-993)Agc>Ggc	p.S331G	ELMO2_ENST00000454865.2_Missense_Mutation_p.S63G|ELMO2_ENST00000396391.1_Missense_Mutation_p.S331G|ELMO2_ENST00000372176.1_Missense_Mutation_p.S243G|ELMO2_ENST00000352077.2_Missense_Mutation_p.S329G|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_Missense_Mutation_p.S148G|ELMO2_ENST00000439931.2_Missense_Mutation_p.S343G	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	331	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGGGCATTGCTAGGATCAGAC	0.488																																							uc002xrt.1		NA																	0				ovary(1)	1						c.(991-993)AGC>GGC		engulfment and cell motility 2							183.0	114.0	138.0					20																	45003949		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45003949T>C	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.991A>G	20.37:g.45003949T>C	ENSP00000290246:p.Ser331Gly					ELMO2_uc010zxq.1_Missense_Mutation_p.S63G|ELMO2_uc002xrs.1_Missense_Mutation_p.S78G|ELMO2_uc002xru.1_Missense_Mutation_p.S331G|ELMO2_uc010zxr.1_Missense_Mutation_p.S343G|ELMO2_uc010zxs.1_Missense_Mutation_p.S148G|ELMO2_uc002xrv.1_Missense_Mutation_p.S50G|ELMO2_uc002xrw.2_Missense_Mutation_p.S148G|ELMO2_uc002xrx.1_Missense_Mutation_p.S331G	p.S331G	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			13	1201	-		Myeloproliferative disorder(115;0.0122)	331			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.991A>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856131	0.32791	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.32515	2.46;2.2;2.46;2.46;1.87;1.88;2.46;1.45;1.85	4.81	4.81	0.61882	Engulfment/cell motility, ELMO (2);	0.175087	0.64402	D	0.000018	T	0.28499	0.0705	L	0.43152	1.355	0.30364	N	0.783516	B;B;B;B;B	0.32467	0.0;0.302;0.372;0.152;0.152	B;B;B;B;B	0.36766	0.004;0.155;0.216;0.102;0.232	T	0.17837	-1.0356	10	0.20046	T	0.44	-24.3055	13.7037	0.62624	0.0:0.0:0.0:1.0	.	343;63;331;148;331	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	G	331;243;331;343;148;63;329;119;331	ENSP00000290246:S331G;ENSP00000361249:S243G;ENSP00000379673:S331G;ENSP00000396519:S343G;ENSP00000409920:S148G;ENSP00000415641:S63G;ENSP00000326172:S329G;ENSP00000388962:S119G;ENSP00000416181:S331G	ENSP00000290246:S331G	S	-	1	0	ELMO2	44437356	1.000000	0.71417	0.785000	0.31869	0.966000	0.64601	2.709000	0.47160	2.015000	0.59207	0.454000	0.30748	AGC		0.488	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		20	49	0	0	0	0.00278	0	20	49				
KCNB1	3745	broad.mit.edu	37	20	47989689	47989689	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:47989689G>T	ENST00000371741.4	-	2	2574	c.2408C>A	c.(2407-2409)cCc>cAc	p.P803H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	803					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGGGGAGGTGGGTAAAGGGGA	0.522																																							uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(2407-2409)CCC>CAC		potassium voltage-gated channel, Shab-related							163.0	173.0	170.0					20																	47989689		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989689G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2408C>A	20.37:g.47989689G>T	ENSP00000360806:p.Pro803His					KCNB1_uc002xus.1_Missense_Mutation_p.P803H	p.P803H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2572	-			803			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.2408C>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476747	0.44044	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96265	-3.96	5.56	4.58	0.56647	.	1.024570	0.07757	N	0.949503	D	0.95733	0.8612	L	0.54323	1.7	0.33928	D	0.641759	D	0.54397	0.966	P	0.46685	0.524	D	0.92715	0.6186	10	0.72032	D	0.01	.	12.0506	0.53505	0.089:0.0:0.911:0.0	.	803	Q14721	KCNB1_HUMAN	H	803;758	ENSP00000360806:P803H	ENSP00000360806:P803H	P	-	2	0	KCNB1	47423096	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	5.425000	0.66470	1.246000	0.43901	0.655000	0.94253	CCC		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		57	130	1	0	2.40265e-35	0.01441	4.30475e-35	57	130				
MC3R	4159	broad.mit.edu	37	20	54824002	54824002	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:54824002T>A	ENST00000243911.2	+	1	215	c.103T>A	c.(103-105)Tgt>Agt	p.C35S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	35					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CAGCGCCTTCTGTGAGCAGGT	0.567																																							uc002xxb.2		NA																	0				ovary(2)|breast(2)	4						c.(103-105)TGT>AGT		melanocortin 3 receptor							123.0	113.0	117.0					20																	54824002		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824002T>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.103T>A	20.37:g.54824002T>A	ENSP00000243911:p.Cys35Ser						p.C35S	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	215	+			72			Extracellular (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.103T>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934880	0.73442	.	.	ENSG00000124089	ENST00000243911	T	0.35236	1.32	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	N	0.08118	0	0.53005	D	0.999961	P	0.49090	0.919	P	0.47015	0.534	T	0.21177	-1.0253	10	0.62326	D	0.03	.	14.4027	0.67060	0.0:0.0:0.0:1.0	.	72	P41968	MC3R_HUMAN	S	35	ENSP00000243911:C35S	ENSP00000243911:C35S	C	+	1	0	MC3R	54257409	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	7.695000	0.84257	1.878000	0.54408	0.528000	0.53228	TGT		0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			40	83	0	0	0	0.01441	0	40	83				
HRH3	11255	broad.mit.edu	37	20	60791330	60791330	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:60791330G>T	ENST00000340177.5	-	3	1354	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	HRH3_ENST00000317393.6_Missense_Mutation_p.A357D	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	357					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CAGCGACTTGGCCACTTTCCT	0.637																																							uc002ycf.2		NA																	0					0						c.(1069-1071)GCC>GAC		histamine receptor H3	Histamine Phosphate(DB00667)						29.0	29.0	29.0					20																	60791330		2203	4296	6499	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791330G>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1070C>A	20.37:g.60791330G>T	ENSP00000342560:p.Ala357Asp					HRH3_uc002ycg.2_Missense_Mutation_p.A277D|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.A357D	p.A357D	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1367	-	Breast(26;7.76e-09)		357			Cytoplasmic (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.1070C>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339590	0.81911	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.75050	-0.9;-0.9	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	M	0.90019	3.08	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91591	0.5287	10	0.87932	D	0	-29.9559	17.8118	0.88619	0.0:0.0:1.0:0.0	.	357;277;357	Q9Y5N1-2;Q8WXZ9;Q9Y5N1	.;.;HRH3_HUMAN	D	357;357;327	ENSP00000342560:A357D;ENSP00000321482:A357D	ENSP00000321482:A357D	A	-	2	0	HRH3	60224725	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.745000	0.98856	2.184000	0.69523	0.407000	0.27541	GCC		0.637	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		10	17	1	0	3.07112e-06	0.010729	3.59342e-06	10	17				
COL20A1	57642	broad.mit.edu	37	20	61950474	61950474	+	Nonsense_Mutation	SNP	G	G	T	rs374617184		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:61950474G>T	ENST00000358894.6	+	22	2828	c.2728G>T	c.(2728-2730)Gag>Tag	p.E910*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.E917*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.E910*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.E917*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	910	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTACTTCCCGAGACACCCCG	0.657																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(2728-2730)GAG>TAG		collagen, type XX, alpha 1		G	stop/GLU	0,4070		0,0,2035	56.0	62.0	60.0		2728	4.2	0.2	20		60	1,8365		0,1,4182	no	stop-gained	COL20A1	NM_020882.2		0,1,6217	TT,TG,GG		0.012,0.0,0.0080		910/1285	61950474	1,12435	2035	4183	6218	SO:0001587	stop_gained	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61950474G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2728G>T	20.37:g.61950474G>T	ENSP00000351767:p.Glu910*					COL20A1_uc011aav.1_Nonsense_Mutation_p.E731*	p.E910*	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			22	2828	+	all_cancers(38;1.39e-10)		910			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Nonsense_Mutation	SNP	ENST00000358894.6	37	c.2728G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	39	7.495418	0.98319	0.0	1.2E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	.	.	.	4.21	4.21	0.49690	.	0.479994	0.20516	N	0.090793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.5752	0.61870	0.0:0.0:1.0:0.0	.	.	.	.	X	910;910;917;917;13	.	ENSP00000323077:E910X	E	+	1	0	COL20A1	61420919	1.000000	0.71417	0.182000	0.23118	0.003000	0.03518	5.995000	0.70631	1.915000	0.55452	0.456000	0.33151	GAG		0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		21	45	1	0	3.6726e-16	0.003954	5.7953e-16	21	45				
SYNJ1	8867	broad.mit.edu	37	21	34038882	34038882	+	Splice_Site	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:34038882T>G	ENST00000322229.7	-	15	1812	c.1813A>C	c.(1813-1815)Aca>Cca	p.T605P	SYNJ1_ENST00000433931.2_Splice_Site_p.T644P|SYNJ1_ENST00000382499.2_Splice_Site_p.T644P|SYNJ1_ENST00000357345.3_Splice_Site_p.T605P|SYNJ1_ENST00000382491.3_Splice_Site_p.T600P			O43426	SYNJ1_HUMAN	synaptojanin 1	605	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGATTTGTTGTGCTACAAGAA	0.358																																							uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(1930-1932)ACA>CCA		synaptojanin 1 isoform a							83.0	83.0	83.0					21																	34038882		2203	4300	6503	SO:0001630	splice_region_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34038882T>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1812-1A>C	21.37:g.34038882T>G						SYNJ1_uc011ads.1_Missense_Mutation_p.T600P|SYNJ1_uc002yqf.2_Missense_Mutation_p.T605P|SYNJ1_uc002yqg.2_Missense_Mutation_p.T600P|SYNJ1_uc002yqi.2_Missense_Mutation_p.T644P	p.T644P	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			16	1930	-			605			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1930A>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.850938	0.91277	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.86	5.86	0.93980	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.31371	0.925	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.972;0.99;0.966;0.992;0.993	D	0.85636	0.1273	10	0.54805	T	0.06	.	16.2453	0.82441	0.0:0.0:0.0:1.0	.	600;644;605;605;605	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	P	600;605;644;644;605;600	ENSP00000371931:T600P;ENSP00000349903:T605P;ENSP00000371939:T644P;ENSP00000409667:T644P;ENSP00000322234:T605P;ENSP00000413649:T600P	ENSP00000322234:T605P	T	-	1	0	SYNJ1	32960753	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.241000	0.73720	0.533000	0.62120	ACA		0.358	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation	13	36	0	0	0	0.013537	0	13	36				
KCNE1	3753	broad.mit.edu	37	21	35821695	35821695	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:35821695C>T	ENST00000337385.3	-	3	613	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	KCNE1_ENST00000399286.2_Missense_Mutation_p.V80I|KCNE1_ENST00000432085.1_Missense_Mutation_p.V80I|KCNE1_ENST00000416357.2_Missense_Mutation_p.V80I|KCNE1_ENST00000399289.3_Missense_Mutation_p.V80I|KCNE1_ENST00000399284.1_Missense_Mutation_p.V80I	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	80					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TCGATGTAGACGTTGAATGGG	0.552																																							uc010gmp.2		NA																	0				ovary(2)	2						c.(238-240)GTC>ATC		potassium voltage-gated channel, Isk-related	Indapamide(DB00808)						97.0	88.0	91.0					21																	35821695		2203	4300	6503	SO:0001583	missense	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821695C>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.238G>A	21.37:g.35821695C>T	ENSP00000337255:p.Val80Ile					KCNE1_uc002ytz.2_Missense_Mutation_p.V80I|KCNE1_uc010gmq.2_Missense_Mutation_p.V80I|KCNE1_uc010gmr.2_Missense_Mutation_p.V80I|KCNE1_uc010gms.2_Missense_Mutation_p.V80I|KCNE1_uc002yua.2_RNA	p.V80I	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN			2	668	-			80			Cytoplasmic (Potential).		A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	c.238G>A	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	7.514	0.655362	0.14580	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.16	3.34	0.38264	.	0.459334	0.21147	N	0.079382	D	0.90410	0.6998	M	0.72118	2.19	0.09310	N	0.999999	B	0.15930	0.015	B	0.16722	0.016	T	0.79040	-0.1966	10	0.24483	T	0.36	-35.4233	7.5042	0.27534	0.0:0.6825:0.0:0.3175	.	80	P15382	KCNE1_HUMAN	I	80	ENSP00000382228:V80I;ENSP00000337255:V80I;ENSP00000412498:V80I;ENSP00000382226:V80I;ENSP00000416258:V80I;ENSP00000382225:V80I	ENSP00000337255:V80I	V	-	1	0	KCNE1	34743565	0.905000	0.30787	0.880000	0.34516	0.103000	0.19146	1.300000	0.33436	1.174000	0.42811	0.591000	0.81541	GTC		0.552	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			22	33	0	0	0	0.010504	0	22	33				
BRWD1	54014	broad.mit.edu	37	21	40559292	40559292	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:40559292T>A	ENST00000333229.2	-	42	6950	c.6623A>T	c.(6622-6624)cAt>cTt	p.H2208L	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2208					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTGATTATGCATACATGT	0.378																																					Melanoma(170;988 1986 4794 16843 39731)	Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NA																	0				skin(3)|ovary(1)	4						c.(6622-6624)CAT>CTT		bromodomain and WD repeat domain containing 1							89.0	87.0	87.0					21																	40559292		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559292T>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6623A>T	21.37:g.40559292T>A	ENSP00000330753:p.His2208Leu					BRWD1_uc010goc.1_Missense_Mutation_p.H851L	p.H2208L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			42	6762	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2208					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6623A>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	4.525	0.097387	0.08681	.	.	ENSG00000185658	ENST00000333229	T	0.50548	0.74	5.08	-1.88	0.07713	.	0.928471	0.09080	N	0.851517	T	0.23846	0.0577	L	0.28274	0.84	0.42674	D	0.993527	B	0.02656	0.0	B	0.01281	0.0	T	0.45264	-0.9273	10	0.02654	T	1	-1.0462	3.3897	0.07285	0.2754:0.2377:0.0:0.4869	.	2208	Q9NSI6	BRWD1_HUMAN	L	2208	ENSP00000330753:H2208L	ENSP00000330753:H2208L	H	-	2	0	BRWD1	39481162	0.003000	0.15002	0.885000	0.34714	0.956000	0.61745	-0.170000	0.09897	-0.095000	0.12351	-0.250000	0.11733	CAT		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		16	27	0	0	0	0.00499	0	16	27				
B3GALT5	10317	broad.mit.edu	37	21	41033144	41033144	+	Missense_Mutation	SNP	G	G	A	rs140140179		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:41033144G>A	ENST00000380620.4	+	5	1250	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.V220M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V220M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V220M|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	220					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CACCGGCTACGTGTTTTCTGG	0.522																																							uc002yyb.1		NA																	0				skin(1)	1						c.(658-660)GTG>ATG		UDP-Gal:betaGlcNAc beta		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	79.0	79.0	79.0		658,658,658,658,658	4.6	0.0	21	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	220/311,220/311,220/311,220/311,220/311	41033144	1,13005	2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033144G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.658G>A	21.37:g.41033144G>A	ENSP00000369994:p.Val220Met					B3GALT5_uc002yye.2_Missense_Mutation_p.V220M|B3GALT5_uc002yyi.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyj.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyk.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyl.1_Missense_Mutation_p.V220M|B3GALT5_uc002yym.1_Missense_Mutation_p.V220M	p.V220M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN			5	1250	+		Prostate(19;2.55e-06)	220			Lumenal (Potential).		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.658G>A	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735820	0.49045	2.27E-4	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.49	4.6	0.57074	.	0.114524	0.36893	N	0.002341	D	0.92433	0.7598	M	0.85630	2.765	0.44719	D	0.997716	D	0.67145	0.996	D	0.65443	0.935	D	0.93262	0.6644	10	0.56958	D	0.05	.	16.3194	0.82941	0.0:0.1324:0.8676:0.0	.	220	Q9Y2C3	B3GT5_HUMAN	M	220	ENSP00000369994:V220M;ENSP00000369992:V220M;ENSP00000343318:V220M;ENSP00000381699:V220M	ENSP00000343318:V220M	V	+	1	0	B3GALT5	39955014	1.000000	0.71417	0.023000	0.16930	0.001000	0.01503	7.798000	0.85924	1.303000	0.44873	-0.176000	0.13171	GTG		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		26	57	0	0	0	0.009535	0	26	57				
SLC19A1	6573	broad.mit.edu	37	21	46951949	46951949	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:46951949G>T	ENST00000311124.4	-	3	455	c.303C>A	c.(301-303)ctC>ctA	p.L101L	SLC19A1_ENST00000567670.1_Silent_p.L101L|SLC19A1_ENST00000485649.2_Silent_p.L61L|SLC19A1_ENST00000380010.4_Silent_p.L101L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	101					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ACACGAAGCTGAGCCCCTGCA	0.662																																							uc002zhl.1		NA																	0					0						c.(301-303)CTC>CTA		solute carrier family 19 member 1							40.0	37.0	38.0					21																	46951949		2200	4297	6497	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951949G>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.303C>A	21.37:g.46951949G>T						SLC19A1_uc010gpy.1_Silent_p.L101L|SLC19A1_uc011aft.1_Silent_p.L61L|SLC19A1_uc002zhm.1_Silent_p.L101L|SLC19A1_uc010gpz.1_5'UTR	p.L101L	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	422	-			101			Helical; (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.303C>A	CCDS13725.1																																																																																				0.662	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			6	42	1	0	0.00116845	0.001168	0.00124057	6	42				
S100B	6285	broad.mit.edu	37	21	48022263	48022263	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:48022263C>A	ENST00000291700.4	-	2	262	c.66G>T	c.(64-66)gaG>gaT	p.E22D	S100B_ENST00000367071.4_Missense_Mutation_p.E22D|S100B_ENST00000397648.1_Missense_Mutation_p.E22D	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	22	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Olopatadine(DB00768)	GCTTGTCTCCCTCCCTTCCAG	0.478																																							uc002zju.1		NA																	0					0						c.(64-66)GAG>GAT		S100 calcium-binding protein, beta							145.0	120.0	129.0					21																	48022263		2203	4300	6503	SO:0001583	missense	6285				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding	g.chr21:48022263C>A	M59488	CCDS13736.1	21q22.3	2013-01-10	2006-09-11		ENSG00000160307	ENSG00000160307		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10500	protein-coding gene	gene with protein product		176990	"""S100 calcium binding protein, beta (neural)"""			2394738, 1998503	Standard	NM_006272		Approved	S100beta	uc002zju.1	P04271	OTTHUMG00000090715	ENST00000291700.4:c.66G>T	21.37:g.48022263C>A	ENSP00000291700:p.Glu22Asp					S100B_uc002zjv.1_Missense_Mutation_p.E22D	p.E22D	NM_006272	NP_006263	P04271	S100B_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	2	177	-	Breast(49;0.247)	Lung NSC(3;0.245)	22			EF-hand 1.|1; low affinity.		D3DSN6	Missense_Mutation	SNP	ENST00000291700.4	37	c.66G>T	CCDS13736.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283589	0.40394	.	.	ENSG00000160307	ENST00000291700;ENST00000367071;ENST00000397648	T;T;T	0.10960	2.82;2.82;2.82	5.48	0.0378	0.14198	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.165188	0.53938	D	0.000054	T	0.08626	0.0214	.	.	.	0.41548	D	0.988558	P;B	0.36199	0.543;0.034	B;B	0.39660	0.306;0.017	T	0.32107	-0.9919	9	0.19590	T	0.45	-6.1773	10.6733	0.45770	0.0:0.4269:0.0:0.5731	.	22;22	A8MRB1;P04271	.;S100B_HUMAN	D	22	ENSP00000291700:E22D;ENSP00000356038:E22D;ENSP00000380769:E22D	ENSP00000291700:E22D	E	-	3	2	S100B	46846691	0.997000	0.39634	0.934000	0.37439	0.815000	0.46073	0.279000	0.18771	-0.198000	0.10333	0.655000	0.94253	GAG		0.478	S100B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207427.1	NM_006272		10	31	1	0	0.00621372	0.006214	0.00642541	10	31				
CECR2	27443	broad.mit.edu	37	22	18028016	18028016	+	Silent	SNP	G	G	T	rs375247052		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:18028016G>T	ENST00000400585.2	+	17	2985	c.2547G>T	c.(2545-2547)gcG>gcT	p.A849A	CECR2_ENST00000400573.5_Silent_p.A991A|CECR2_ENST00000262608.8_Silent_p.A992A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1033					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCGAATCTGCGGACAACTGTA	0.612																																							uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(2971-2973)GCG>GCT		cat eye syndrome chromosome region, candidate 2							34.0	39.0	37.0					22																	18028016		1951	4128	6079	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028016G>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2547G>T	22.37:g.18028016G>T						CECR2_uc010gqv.1_Silent_p.A849A|CECR2_uc002zml.2_Silent_p.A850A|CECR2_uc002zmo.2_RNA	p.A991A	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3099	+		all_epithelial(15;0.139)	1033					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.2973G>T																																																																																					0.612	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		6	9	1	0	8.12818e-05	0.001984	9.0391e-05	6	9				
PPIL2	23759	broad.mit.edu	37	22	22036798	22036798	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:22036798G>A	ENST00000335025.8	+	8	551	c.460G>A	c.(460-462)Gac>Aac	p.D154N	PPIL2_ENST00000456792.2_Missense_Mutation_p.D133N|PPIL2_ENST00000412327.1_Missense_Mutation_p.D154N|PPIL2_ENST00000406385.1_Missense_Mutation_p.D154N|PPIL2_ENST00000398831.3_Missense_Mutation_p.D154N|PPIL2_ENST00000492445.2_Missense_Mutation_p.D154N					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CTCCCGGCAGGACATCATCAC	0.612																																							uc010gtj.1		NA																	0				ovary(2)	2						c.(460-462)GAC>AAC		peptidylprolyl isomerase-like 2 isoform a							94.0	74.0	81.0					22																	22036798		2203	4300	6503	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22036798G>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.460G>A	22.37:g.22036798G>A	ENSP00000334553:p.Asp154Asn					PPIL2_uc002zvh.3_Missense_Mutation_p.D154N|PPIL2_uc002zvi.3_Missense_Mutation_p.D154N|PPIL2_uc002zvg.3_Missense_Mutation_p.D154N|PPIL2_uc011aij.1_Missense_Mutation_p.D133N	p.D154N	NM_148175	NP_680480	Q13356	PPIL2_HUMAN			8	576	+	Colorectal(54;0.105)		154						Missense_Mutation	SNP	ENST00000335025.8	37	c.460G>A	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949421	0.92660	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.16	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	0.998;0.996;1.0	D;D;D	0.97110	0.981;0.977;1.0	T	0.76550	-0.2918	10	0.87932	D	0	.	14.7037	0.69174	0.0745:0.0:0.9255:0.0	.	133;154;154	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	N	154;154;154;154;154;133	ENSP00000390427:D154N;ENSP00000334553:D154N;ENSP00000381812:D154N;ENSP00000445312:D154N;ENSP00000384299:D154N;ENSP00000396228:D133N	ENSP00000334553:D154N	D	+	1	0	PPIL2	20366798	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.678000	0.84035	2.586000	0.87340	0.579000	0.79373	GAC		0.612	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			6	36	0	0	0	0.001984	0	6	36				
CBX7	23492	broad.mit.edu	37	22	39530024	39530024	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:39530024G>A	ENST00000216133.5	-	6	833	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	CBX7_ENST00000401405.3_Missense_Mutation_p.P117S|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	210					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GGTGTCCAGGGAGGGGGCCCC	0.657																																					GBM(46;845 904 3560 9866 23971)	GBM(46;845 904 3560 9866 23971)	uc003axb.2		NA																	0				ovary(1)	1						c.(628-630)CCC>TCC		chromobox homolog 7							73.0	76.0	75.0					22																	39530024		2203	4300	6503	SO:0001583	missense	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39530024G>A		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.628C>T	22.37:g.39530024G>A	ENSP00000216133:p.Pro210Ser					CBX7_uc003axc.2_Missense_Mutation_p.P117S	p.P210S	NM_175709	NP_783640	O95931	CBX7_HUMAN			6	717	-	Melanoma(58;0.04)		210					Q86T17	Missense_Mutation	SNP	ENST00000216133.5	37	c.628C>T	CCDS13986.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664619	0.47572	.	.	ENSG00000100307	ENST00000216133;ENST00000401405	T;T	0.44083	0.93;0.93	5.31	1.99	0.26369	.	0.308654	0.31290	N	0.007911	T	0.18551	0.0445	N	0.19112	0.55	0.21579	N	0.999637	B;P	0.37122	0.0;0.583	B;B	0.29942	0.0;0.109	T	0.30534	-0.9975	10	0.06236	T	0.91	.	8.6797	0.34201	0.3293:0.0:0.6707:0.0	.	117;210	B0QYP2;O95931	.;CBX7_HUMAN	S	210;117	ENSP00000216133:P210S;ENSP00000384035:P117S	ENSP00000216133:P210S	P	-	1	0	CBX7	37859970	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	2.400000	0.44504	0.189000	0.20188	0.561000	0.74099	CCC		0.657	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		5	98	0	0	0	0.001168	0	5	98				
KIAA1644	85352	broad.mit.edu	37	22	44692609	44692609	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:44692609T>A	ENST00000381176.4	-	3	356	c.224A>T	c.(223-225)gAg>gTg	p.E75V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	75						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCTGGAACTCCGTCTCGTT	0.592																																							uc003bet.2		NA																	0				ovary(1)	1						c.(223-225)GAG>GTG		hypothetical protein LOC85352 precursor							131.0	145.0	141.0					22																	44692609		2146	4252	6398	SO:0001583	missense	85352					integral to membrane		g.chr22:44692609T>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.224A>T	22.37:g.44692609T>A	ENSP00000370568:p.Glu75Val						p.E75V	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			3	357	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	75			Extracellular (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.224A>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641949	0.87859	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.32530	0.975	0.43226	D	0.995116	D	0.89917	1.0	D	0.77004	0.989	T	0.71441	-0.4592	8	0.87932	D	0	-23.6753	10.7402	0.46149	0.0:0.0:0.1593:0.8407	.	75	Q3SXP7	K1644_HUMAN	V	75	.	ENSP00000370568:E75V	E	-	2	0	KIAA1644	43023942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.047000	0.60756	0.459000	0.35465	GAG		0.592	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		34	138	0	0	0	0.004289	0	34	138				
IL17RE	132014	broad.mit.edu	37	3	9948474	9948474	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:9948474C>T	ENST00000383814.3	+	5	556	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IL17RE_ENST00000421412.1_Missense_Mutation_p.R184C|IL17RE_ENST00000454190.2_Missense_Mutation_p.R151C|IL17RE_ENST00000295980.3_Missense_Mutation_p.R151C	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	151					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAAGGGACTTCGCTCTAAAAG	0.532																																							uc003btu.2		NA																	0				central_nervous_system(1)	1						c.(451-453)CGC>TGC		interleukin 17 receptor E isoform 1							137.0	136.0	136.0					3																	9948474		2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9948474C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.451C>T	3.37:g.9948474C>T	ENSP00000373325:p.Arg151Cys					CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.R151C|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.R151C|IL17RE_uc003btx.2_Missense_Mutation_p.R35C|IL17RE_uc010hcq.2_Missense_Mutation_p.R151C|IL17RE_uc003bty.2_RNA	p.R151C	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	6	568	+			151			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.451C>T	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133706	0.56828	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992;ENST00000441648	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.7	4.83	0.62350	.	0.306902	0.32473	N	0.006058	T	0.31420	0.0796	L	0.59436	1.845	0.18873	N	0.999986	D;P;D	0.76494	0.999;0.865;0.998	P;B;P	0.62014	0.897;0.112;0.661	T	0.12091	-1.0561	10	0.87932	D	0	-14.7804	8.1639	0.31215	0.0:0.7579:0.1584:0.0837	.	151;151;151	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	C	184;151;151;151;111;34	ENSP00000404916:R184C;ENSP00000295980:R151C;ENSP00000373325:R151C;ENSP00000388086:R151C;ENSP00000400768:R111C	ENSP00000295980:R151C	R	+	1	0	IL17RE	9923474	0.074000	0.21230	0.337000	0.25536	0.714000	0.41099	0.665000	0.25083	1.417000	0.47077	0.655000	0.94253	CGC		0.532	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		6	129	0	0	0	0.001168	0	6	129				
MKRN2	23609	broad.mit.edu	37	3	12613724	12613724	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:12613724G>A	ENST00000170447.7	+	4	631	c.494G>A	c.(493-495)aGc>aAc	p.S165N	MKRN2_ENST00000448482.1_Missense_Mutation_p.S163N|MKRN2_ENST00000411987.1_Missense_Mutation_p.S122N	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	165					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGCTCCTACAGCAACGAGCAG	0.627																																							uc003bxd.2		NA																	0					0						c.(493-495)AGC>AAC		makorin ring finger protein 2							81.0	76.0	78.0					3																	12613724		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12613724G>A		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.494G>A	3.37:g.12613724G>A	ENSP00000170447:p.Ser165Asn					MKRN2_uc003bxe.2_Missense_Mutation_p.S163N|MKRN2_uc011aus.1_Missense_Mutation_p.S122N	p.S165N	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			4	550	+			165			C3H1-type 3.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.494G>A	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498111	0.04291	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.23348	2.75;1.91;1.93	5.38	2.61	0.31194	Zinc finger, CCCH-type (1);	0.498983	0.26136	N	0.026135	T	0.14013	0.0339	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28552	0.144;0.215;0.215	B;B;B	0.18263	0.021;0.021;0.021	T	0.20207	-1.0282	10	0.20046	T	0.44	.	3.6071	0.08046	0.1383:0.2615:0.479:0.1212	.	122;163;165	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	N	165;122;163	ENSP00000170447:S165N;ENSP00000396340:S122N;ENSP00000397983:S163N	ENSP00000170447:S165N	S	+	2	0	MKRN2	12588724	0.000000	0.05858	0.274000	0.24659	0.170000	0.22686	-0.074000	0.11450	0.382000	0.24878	-0.137000	0.14449	AGC		0.627	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		18	35	0	0	0	0.008871	0	18	35				
IQSEC1	9922	broad.mit.edu	37	3	12950774	12950774	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:12950774C>A	ENST00000273221.4	-	11	2835	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	873					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTACTCACACTCTATCCTGT	0.547																																							uc003bxt.2		NA																	0				ovary(1)	1						c.(2617-2619)GAG>GAT		IQ motif and Sec7 domain 1 isoform b							124.0	127.0	126.0					3																	12950774		2203	4300	6503	SO:0001630	splice_region_variant	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950774C>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2620+1G>T	3.37:g.12950774C>A						IQSEC1_uc003bxu.3_Missense_Mutation_p.E751D|IQSEC1_uc011auw.1_Missense_Mutation_p.E859D	p.E873D	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			11	2628	-			873			Potential.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2619G>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.944165|2.944165	0.53079|0.53079	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.50813|.	0.73;0.73|.	4.86|4.86	1.83|1.83	0.25207|0.25207	.|.	0.049353|.	0.85682|.	D|.	0.000000|.	T|T	0.58119|0.58119	0.2100|0.2100	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|.	0.27971|.	0.023;0.196;0.023|.	B;B;B|.	0.26094|.	0.038;0.066;0.023|.	T|T	0.50092|0.50092	-0.8868|-0.8868	9|4	0.62326|.	D|.	0.03|.	.|.	9.4828|9.4828	0.38911|0.38911	0.0:0.75:0.0:0.25|0.0:0.75:0.0:0.25	.|.	859;859;873|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	D|F	873;859;859|874	ENSP00000273221:E873D;ENSP00000402299:E859D|.	ENSP00000273221:E873D|.	E|V	-|-	3|1	2|0	IQSEC1|IQSEC1	12925774|12925774	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.951000|0.951000	0.60555|0.60555	1.760000|1.760000	0.38430|0.38430	0.124000|0.124000	0.18369|0.18369	0.655000|0.655000	0.94253|0.94253	GAG|GTC		0.547	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	Missense_Mutation	25	90	1	0	1.77063e-15	0.005443	2.73547e-15	25	90				
NEK10	152110	broad.mit.edu	37	3	27346303	27346303	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:27346303G>A	ENST00000429845.2	-	13	1325	c.963C>T	c.(961-963)gaC>gaT	p.D321D	NEK10_ENST00000341435.5_Silent_p.D321D			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	321					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGTCTCAGGGTCCTCACAAA	0.507																																							uc003cdt.1		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(961-963)GAC>GAT		NIMA-related kinase 10 isoform 3							92.0	80.0	83.0					3																	27346303		1568	3582	5150	SO:0001819	synonymous_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27346303G>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.963C>T	3.37:g.27346303G>A							p.D321D	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			13	1237	-			321					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37	c.963C>T																																																																																					0.507	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		11	30	0	0	0	0.00245	0	11	30				
ZNF445	353274	broad.mit.edu	37	3	44488733	44488733	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:44488733C>A	ENST00000396077.2	-	8	2777	c.2430G>T	c.(2428-2430)agG>agT	p.R810S	ZNF445_ENST00000425708.2_Missense_Mutation_p.R810S	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	810					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGAGTGAATCCTCTGATGTC	0.443																																							uc003cnf.2		NA																	0				ovary(1)	1						c.(2428-2430)AGG>AGT		zinc finger protein 445							77.0	77.0	77.0					3																	44488733		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488733C>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2430G>T	3.37:g.44488733C>A	ENSP00000379387:p.Arg810Ser					ZNF445_uc011azv.1_Missense_Mutation_p.R798S|ZNF445_uc011azw.1_Missense_Mutation_p.R810S	p.R810S	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	2778	-			810			C2H2-type 9.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2430G>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674029	0.47781	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.33438	1.41;1.41	3.61	0.74	0.18330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.275863	0.26450	N	0.024310	T	0.37625	0.1010	M	0.62723	1.935	0.18873	N	0.999989	P;P	0.51791	0.948;0.948	P;P	0.52793	0.632;0.709	T	0.19516	-1.0303	10	0.87932	D	0	.	7.5042	0.27534	0.0:0.582:0.0:0.418	.	798;810	B7ZKX2;P59923	.;ZN445_HUMAN	S	810	ENSP00000413073:R810S;ENSP00000379387:R810S	ENSP00000379387:R810S	R	-	3	2	ZNF445	44463737	0.000000	0.05858	0.256000	0.24389	0.929000	0.56500	-0.650000	0.05378	0.142000	0.18901	0.457000	0.33378	AGG		0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		19	36	1	0	2.37509e-13	0.010504	3.55231e-13	19	36				
ZKSCAN7	55888	broad.mit.edu	37	3	44598651	44598651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:44598651C>T	ENST00000273320.3	+	2	541	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Nonsense_Mutation_p.Q38*|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.Q38*|ZKSCAN7_ENST00000431636.1_Nonsense_Mutation_p.Q38*	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GACCTGGGGGCAGGGCAGCAG	0.572																																						Esophageal Squamous(121;907 1626 38429 48584 52774)	uc010hin.2		NA																	0				ovary(2)	2						c.(112-114)CAG>TAG		zinc finger protein 167 isoform 1							59.0	60.0	60.0					3																	44598651		2203	4300	6503	SO:0001587	stop_gained	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44598651C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.112C>T	3.37:g.44598651C>T	ENSP00000273320:p.Gln38*					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Nonsense_Mutation_p.Q38*|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q38*|ZNF167_uc003cnk.2_Nonsense_Mutation_p.Q38*	p.Q38*	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	2	500	+			38					A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	c.112C>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	36	5.943477	0.97128	.	.	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320	.	.	.	4.9	4.9	0.64082	.	0.000000	0.31495	N	0.007543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.2993	13.9699	0.64233	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000273320:Q38X	Q	+	1	0	ZNF167	44573655	0.000000	0.05858	0.419000	0.26584	0.615000	0.37417	0.546000	0.23284	2.436000	0.82500	0.655000	0.94253	CAG		0.572	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		14	33	0	0	0	0.003163	0	14	33				
DUSP7	1849	broad.mit.edu	37	3	52090174	52090174	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:52090174G>A	ENST00000495880.1	-	1	392	c.209C>T	c.(208-210)gCg>gTg	p.A70V	DUSP7_ENST00000296483.6_Missense_Mutation_p.A19V			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	70	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCAAGGACGCGCCGCCGCG	0.741																																							uc003dct.2		NA																	0				ovary(1)	1						c.(208-210)GCG>GTG		dual specificity phosphatase 7							8.0	10.0	9.0					3																	52090174		2148	4235	6383	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52090174G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.209C>T	3.37:g.52090174G>A	ENSP00000417183:p.Ala70Val					DUSP7_uc010hma.2_Missense_Mutation_p.A70V	p.A70V	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	288	-			70			Rhodanese.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.209C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	10.91	1.483756	0.26598	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.42900	1.75;1.75;0.96	4.43	3.56	0.40772	Rhodanese-like (5);	0.000000	0.47093	D	0.000255	T	0.26846	0.0657	L	0.27053	0.805	0.28600	N	0.909215	B;P	0.35600	0.216;0.511	B;B	0.33568	0.009;0.166	T	0.11324	-1.0592	10	0.36615	T	0.2	.	8.5271	0.33311	0.09:0.2036:0.7063:0.0	.	19;70	Q16829-2;Q16829	.;DUS7_HUMAN	V	70;19;3	ENSP00000417183:A70V;ENSP00000296483:A19V;ENSP00000418566:A3V	ENSP00000296483:A19V	A	-	2	0	DUSP7	52065214	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	2.537000	0.45702	0.876000	0.35872	0.651000	0.88453	GCG		0.741	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		8	8	0	0	0	0.004482	0	8	8				
TMF1	7110	broad.mit.edu	37	3	69077407	69077407	+	Silent	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:69077407T>A	ENST00000398559.2	-	12	2850	c.2634A>T	c.(2632-2634)gtA>gtT	p.V878V	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.V881V|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	878					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGTGTTCTTACATATTCAT	0.353																																							uc003dnn.2		NA																	0					0						c.(2632-2634)GTA>GTT		TATA element modulatory factor 1							119.0	111.0	113.0					3																	69077407		1844	4090	5934	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69077407T>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2634A>T	3.37:g.69077407T>A						TMF1_uc011bfx.1_Silent_p.V881V	p.V878V	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	12	2881	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	878			Potential.		B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.2634A>T	CCDS43105.1																																																																																				0.353	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		6	26	0	0	0	0.001984	0	6	26				
PDZRN3	23024	broad.mit.edu	37	3	73432857	73432857	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:73432857G>C	ENST00000263666.4	-	10	2974	c.2860C>G	c.(2860-2862)Cgc>Ggc	p.R954G	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R671G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R611G|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R676G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R611G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	954					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGCCGCTGCGCTCTTCCCGG	0.657																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2860-2862)CGC>GGC		PDZ domain containing ring finger 3							51.0	50.0	50.0					3																	73432857		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432857G>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2860C>G	3.37:g.73432857G>C	ENSP00000263666:p.Arg954Gly					PDZRN3_uc011bgh.1_Missense_Mutation_p.R611G|PDZRN3_uc010hoe.1_Missense_Mutation_p.R652G|PDZRN3_uc011bgf.1_Missense_Mutation_p.R671G|PDZRN3_uc011bgg.1_Missense_Mutation_p.R674G	p.R954G	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2956	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	954					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2860C>G	CCDS33789.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.38|17.38|17.38	3.374616|3.374616|3.374616	0.61735|0.61735|0.61735	.|.|.	.|.|.	ENSG00000121440|ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530|ENST00000494559	.|T;T;T;T;T|.	.|0.50548|.	.|0.74;0.74;0.74;0.74;0.74|.	5.27|5.27|5.27	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.76630|0.76630|0.76630	0.4014|0.4014|0.4014	M|M|M	0.82716|0.82716|0.82716	2.605|2.605|2.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;0.999|.	.|D;D;D;D|.	.|0.97110|.	.|1.0;0.998;1.0;0.994|.	T|T|T	0.78593|0.78593|0.78593	-0.2144|-0.2144|-0.2144	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	13.4823|13.4823|13.4823	0.61342|0.61342|0.61342	0.0:0.0:0.8435:0.1565|0.0:0.0:0.8435:0.1565|0.0:0.0:0.8435:0.1565	.|.|.	.|676;671;671;954|.	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.|.;.;.;PZRN3_HUMAN|.	G|G|R	673|954;676;611;611;671|269	.|ENSP00000263666:R954G;ENSP00000442026:R676G;ENSP00000418168:R611G;ENSP00000418484:R611G;ENSP00000418624:R671G|.	.|ENSP00000263666:R954G|.	A|R|S	-|-|-	2|1|3	0|0|2	PDZRN3|PDZRN3|PDZRN3	73515547|73515547|73515547	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.755000|0.755000|0.755000	0.42902|0.42902|0.42902	7.421000|7.421000|7.421000	0.80204|0.80204|0.80204	2.452000|2.452000|2.452000	0.82932|0.82932|0.82932	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCG|CGC|AGC		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		14	40	0	0	0	0.00245	0	14	40				
CNTN3	5067	broad.mit.edu	37	3	74548901	74548901	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:74548901C>G	ENST00000263665.6	-	2	118	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	31	Ig-like C2-type 1.				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)		TTGCTGGGTTCTTTGATAAAT	0.378																																							uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(91-93)GAA>CAA		contactin 3 precursor							92.0	97.0	95.0					3																	74548901		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74548901C>G	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.91G>C	3.37:g.74548901C>G	ENSP00000263665:p.Glu31Gln						p.E31Q	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)	2	171	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	31			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.91G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039841	0.35989	.	.	ENSG00000113805	ENST00000263665	T	0.42131	0.98	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.27629	0.0679	N	0.17838	0.53	0.37895	D	0.930848	B	0.29531	0.247	B	0.32980	0.156	T	0.09422	-1.0675	10	0.02654	T	1	.	14.9833	0.71327	0.0:1.0:0.0:0.0	.	31	Q9P232	CNTN3_HUMAN	Q	31	ENSP00000263665:E31Q	ENSP00000263665:E31Q	E	-	1	0	CNTN3	74631591	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.794000	0.62482	2.602000	0.87976	0.655000	0.94253	GAA		0.378	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		17	52	0	0	0	0.003954	0	17	52				
HTR1F	3355	broad.mit.edu	37	3	88040885	88040885	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:88040885C>T	ENST00000319595.4	+	1	1040	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	329					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAAGAAATGTCCAATTTTTTG	0.323																																							uc003dqr.2		NA																	0				ovary(3)	3						c.(985-987)TCC>TTC		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						58.0	62.0	61.0					3																	88040885		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040885C>T	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.986C>T	3.37:g.88040885C>T	ENSP00000322924:p.Ser329Phe						p.S329F	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	1144	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	329			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.986C>T	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452614	0.63290	.	.	ENSG00000179097	ENST00000319595	T	0.70986	-0.53	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.124835	0.56097	D	0.000035	T	0.63558	0.2521	N	0.04162	-0.26	0.47949	D	0.999556	D	0.76494	0.999	D	0.67103	0.949	T	0.60296	-0.7291	10	0.02654	T	1	.	16.9722	0.86303	0.0:1.0:0.0:0.0	.	329	P30939	5HT1F_HUMAN	F	329	ENSP00000322924:S329F	ENSP00000322924:S329F	S	+	2	0	HTR1F	88123575	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.722000	0.84778	2.607000	0.88179	0.557000	0.71058	TCC		0.323	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		3	25	0	0	0	0.000602	0	3	25				
EPHA3	2042	broad.mit.edu	37	3	89390222	89390222	+	Splice_Site	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:89390222G>A	ENST00000336596.2	+	4	1195		c.e4+1		EPHA3_ENST00000452448.2_Splice_Site|EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTTGTACCCGTGAGTAGTTT	0.443										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Unknown(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.e4+1		ephrin receptor EphA3 isoform a precursor							129.0	132.0	131.0					3																	89390222		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390222G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.970+1G>A	3.37:g.89390222G>A		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Splice_Site_p.R324_splice|EPHA3_uc010hon.1_Splice_Site	p.R324_splice	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1195	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.970_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571382	0.86542	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89472912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	.		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	21	83	0	0	0	0.00278	0	21	83				
PROS1	5627	broad.mit.edu	37	3	93593219	93593219	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:93593219G>T	ENST00000394236.3	-	15	2217	c.1901C>A	c.(1900-1902)gCc>gAc	p.A634D	PROS1_ENST00000407433.1_Missense_Mutation_p.A503D	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	634	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATTATAAAAGGCATTCACTGG	0.358																																							uc003drb.3		NA																	0				large_intestine(1)	1						c.(1900-1902)GCC>GAC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						54.0	51.0	52.0					3																	93593219		2203	4299	6502	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93593219G>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1901C>A	3.37:g.93593219G>T	ENSP00000377783:p.Ala634Asp					PROS1_uc010hoo.2_Missense_Mutation_p.A503D|PROS1_uc003dqz.3_Missense_Mutation_p.A503D	p.A634D	NM_000313	NP_000304	P07225	PROS_HUMAN			15	2242	-			634			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1901C>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282303	0.59867	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79247	-1.25;-1.25	4.31	2.49	0.30216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.160860	0.53938	D	0.000043	D	0.85788	0.5778	M	0.85630	2.765	0.45554	D	0.998507	D	0.69078	0.997	D	0.68039	0.955	D	0.85668	0.1293	10	0.87932	D	0	.	7.4932	0.27473	0.2715:0.0:0.7285:0.0	.	634	P07225	PROS_HUMAN	D	634;503	ENSP00000377783:A634D;ENSP00000385794:A503D	ENSP00000377783:A634D	A	-	2	0	PROS1	95075909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.544000	0.45761	1.161000	0.42604	0.555000	0.69702	GCC		0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		6	16	1	0	0.00307968	0.00308	0.00322991	6	16				
ZPLD1	131368	broad.mit.edu	37	3	102187852	102187852	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:102187852G>C	ENST00000491959.1	+	15	1688	c.806G>C	c.(805-807)aGc>aCc	p.S269T	ZPLD1_ENST00000306176.1_Missense_Mutation_p.S285T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S269T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	269	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATGGCCGAAGCCAGCGGGGC	0.478																																							uc003dvs.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(805-807)AGC>ACC		zona pellucida-like domain containing 1							74.0	75.0	75.0					3																	102187852		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102187852G>C	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.806G>C	3.37:g.102187852G>C	ENSP00000420265:p.Ser269Thr					ZPLD1_uc003dvt.1_Missense_Mutation_p.S285T|ZPLD1_uc011bhg.1_Missense_Mutation_p.S269T	p.S269T	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			15	1688	+			269			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.806G>C		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726547	0.89298	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83335	-1.71;-1.71;-1.71	5.47	5.47	0.80525	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.78314	0.991;0.912	D	0.90215	0.4267	10	0.56958	D	0.05	-4.5237	19.3006	0.94143	0.0:0.0:1.0:0.0	.	285;269	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	269;285;269	ENSP00000420265:S269T;ENSP00000307801:S285T;ENSP00000418253:S269T	ENSP00000307801:S285T	S	+	2	0	ZPLD1	103670542	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.571000	0.86741	0.462000	0.41574	AGC		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		17	27	0	0	0	0.008871	0	17	27				
MYH15	22989	broad.mit.edu	37	3	108179195	108179195	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:108179195C>T	ENST00000273353.3	-	18	2000	c.1944G>A	c.(1942-1944)aaG>aaA	p.K648K	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	648	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTTTCGTTTCTTCTCCCCAA	0.328																																							uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(1942-1944)AAG>AAA		myosin, heavy polypeptide 15							54.0	52.0	52.0					3																	108179195		1818	4066	5884	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108179195C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1944G>A	3.37:g.108179195C>T							p.K648K	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			18	2001	-			648			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.1944G>A	CCDS43127.1																																																																																				0.328	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		6	10	0	0	0	0.001168	0	6	10				
MORC1	27136	broad.mit.edu	37	3	108818286	108818286	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:108818286A>C	ENST00000483760.1	-	6	385	c.342T>G	c.(340-342)ttT>ttG	p.F114L	MORC1_ENST00000232603.5_Missense_Mutation_p.F114L|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAAAAAGAATAAAGTCTTTTC	0.343																																							uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(340-342)TTT>TTG		MORC family CW-type zinc finger 1							107.0	107.0	107.0					3																	108818286		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818286A>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.342T>G	3.37:g.108818286A>C	ENSP00000417282:p.Phe114Leu					MORC1_uc011bhn.1_Missense_Mutation_p.F114L	p.F114L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			6	429	-			114						Missense_Mutation	SNP	ENST00000483760.1	37	c.342T>G		.	.	.	.	.	.	.	.	.	.	A	14.34	2.507616	0.44558	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.94232	-3.38;-3.38	4.91	1.32	0.21799	ATPase-like, ATP-binding domain (3);	0.133058	0.35235	N	0.003341	D	0.85847	0.5792	N	0.16266	0.395	0.30732	N	0.747099	P;B	0.50819	0.939;0.132	P;B	0.48770	0.589;0.098	T	0.81743	-0.0793	10	0.10636	T	0.68	-12.9025	6.5755	0.22564	0.6278:0.0:0.3722:0.0	.	114;114	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	114	ENSP00000232603:F114L;ENSP00000417282:F114L	ENSP00000232603:F114L	F	-	3	2	MORC1	110300976	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.734000	0.26101	0.446000	0.26666	-0.263000	0.10527	TTT		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			3	11	0	0	0	0.009096	0	3	11				
BFSP2	8419	broad.mit.edu	37	3	133119269	133119269	+	Missense_Mutation	SNP	C	C	G	rs371179115		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:133119269C>G	ENST00000302334.2	+	1	431	c.342C>G	c.(340-342)tgC>tgG	p.C114W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	114	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TAGGGGGCTGCCTGGTGGAAT	0.612																																							uc003epn.1		NA																	0					0						c.(340-342)TGC>TGG		phakinin							53.0	61.0	58.0					3																	133119269		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119269C>G	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.342C>G	3.37:g.133119269C>G	ENSP00000304987:p.Cys114Trp						p.C114W	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			1	480	+			114			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.342C>G	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343246	0.61073	.	.	ENSG00000170819	ENST00000302334	D	0.83335	-1.71	5.84	4.03	0.46877	.	0.084156	0.52532	D	0.000071	D	0.90324	0.6973	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90419	0.4415	10	0.87932	D	0	-22.6392	11.6207	0.51115	0.0:0.8076:0.1252:0.0671	.	114	Q13515	BFSP2_HUMAN	W	114	ENSP00000304987:C114W	ENSP00000304987:C114W	C	+	3	2	BFSP2	134601959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.141000	0.42168	0.795000	0.33922	0.563000	0.77884	TGC		0.612	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			13	62	0	0	0	0.00245	0	13	62				
STAG1	10274	broad.mit.edu	37	3	136117607	136117607	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:136117607T>C	ENST00000383202.2	-	22	2517	c.2261A>G	c.(2260-2262)gAt>gGt	p.D754G	STAG1_ENST00000536929.1_Missense_Mutation_p.D338G|STAG1_ENST00000434713.2_Missense_Mutation_p.D528G|STAG1_ENST00000236698.5_Missense_Mutation_p.D754G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	754					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGAGAGCCATCAGTAATTTT	0.313																																							uc003era.1		NA																	0				ovary(2)	2						c.(2260-2262)GAT>GGT		stromal antigen 1							66.0	66.0	66.0					3																	136117607		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136117607T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2261A>G	3.37:g.136117607T>C	ENSP00000372689:p.Asp754Gly					STAG1_uc003erb.1_Missense_Mutation_p.D754G|STAG1_uc003erc.1_Missense_Mutation_p.D528G	p.D754G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			22	2553	-			754					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2261A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439264	0.43326	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.49	5.49	0.81192	Armadillo-type fold (1);	0.049702	0.85682	D	0.000000	T	0.24044	0.0582	N	0.24115	0.695	0.43745	D	0.996246	B;B	0.33883	0.43;0.0	B;B	0.37144	0.242;0.001	T	0.06463	-1.0825	10	0.23891	T	0.37	.	14.5546	0.68091	0.0:0.0:0.0:1.0	.	754;754	Q6P275;Q8WVM7	.;STAG1_HUMAN	G	754;754;528;338	ENSP00000372689:D754G;ENSP00000236698:D754G;ENSP00000404396:D528G;ENSP00000445787:D338G	ENSP00000236698:D754G	D	-	2	0	STAG1	137600297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.082000	0.62665	0.482000	0.46254	GAT		0.313	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		16	18	0	0	0	0.012319	0	16	18				
PAQR9	344838	broad.mit.edu	37	3	142681067	142681067	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:142681067G>T	ENST00000340634.3	-	1	1111	c.1112C>A	c.(1111-1113)tCc>tAc	p.S371Y	RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	371						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCAGAATTCGGAGCTGTTTAG	0.532																																							uc003evg.2		NA																	0					0						c.(1111-1113)TCC>TAC		progestin and adipoQ receptor family member IX							92.0	108.0	102.0					3																	142681067		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681067G>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.1112C>A	3.37:g.142681067G>T	ENSP00000341564:p.Ser371Tyr					PAQR9_uc003evf.1_RNA	p.S371Y	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	1112	-			371			Extracellular (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.1112C>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	5.775	0.327310	0.10956	.	.	ENSG00000188582	ENST00000498470;ENST00000340634	T	0.24908	1.83	5.42	4.55	0.56014	.	0.922388	0.09141	N	0.842970	T	0.19765	0.0475	N	0.14661	0.345	0.09310	N	1	B	0.22480	0.07	B	0.26614	0.071	T	0.29701	-1.0003	10	0.62326	D	0.03	-13.9609	12.2769	0.54741	0.0778:0.0:0.9222:0.0	.	371	Q6ZVX9	PAQR9_HUMAN	Y	9;371	ENSP00000341564:S371Y	ENSP00000341564:S371Y	S	-	2	0	PAQR9	144163757	0.208000	0.23494	0.154000	0.22540	0.301000	0.27625	2.025000	0.41059	1.291000	0.44653	0.655000	0.94253	TCC		0.532	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		25	84	1	0	2.65835e-16	0.007291	4.20769e-16	25	84				
SI	6476	broad.mit.edu	37	3	164777757	164777757	+	Missense_Mutation	SNP	C	C	A	rs267599669		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:164777757C>A	ENST00000264382.3	-	10	1141	c.1079G>T	c.(1078-1080)tGg>tTg	p.W360L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	360	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)	CTTATAATTCCAGCGACTTAG	0.373										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1078-1080)TGG>TTG		sucrase-isomaltase	Acarbose(DB00284)						145.0	159.0	155.0					3																	164777757		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777757C>A	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.1079G>T	3.37:g.164777757C>A	ENSP00000264382:p.Trp360Leu	HNSCC(35;0.089)					p.W360L	NM_001041	NP_001032	P14410	SUIS_HUMAN			10	1141	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	360			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1079G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016289	0.75161	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.49	4.62	0.57501	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	H	0.95504	3.68	0.49915	D	0.999835	D	0.58620	0.983	P	0.54460	0.753	D	0.95713	0.8759	10	0.66056	D	0.02	.	12.2031	0.54337	0.0:0.858:0.0:0.142	.	360	P14410	SUIS_HUMAN	L	360	ENSP00000264382:W360L	ENSP00000264382:W360L	W	-	2	0	SI	166260451	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.342000	0.52159	1.315000	0.45114	0.484000	0.47621	TGG		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		36	99	1	0	2.52637e-11	0.005524	3.53281e-11	36	99				
WDR49	151790	broad.mit.edu	37	3	167322098	167322098	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:167322098T>A	ENST00000308378.3	-	2	399	c.94A>T	c.(94-96)Aat>Tat	p.N32Y	WDR49_ENST00000453925.2_Missense_Mutation_p.N85Y|WDR49_ENST00000479765.1_Missense_Mutation_p.N373Y	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	32										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCAATTAAATTGAGCCGAGAG	0.388																																							uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(94-96)AAT>TAT		WD repeat domain 49							138.0	137.0	137.0					3																	167322098		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167322098T>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.94A>T	3.37:g.167322098T>A	ENSP00000311343:p.Asn32Tyr					WDR49_uc011bpd.1_Missense_Mutation_p.N85Y|WDR49_uc003few.1_Missense_Mutation_p.N373Y	p.N32Y	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			2	400	-			32			WD 1.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.94A>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726720	0.69074	.	.	ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925	T;T;T	0.32272	1.47;1.46;2.1	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.213082	0.46442	D	0.000292	T	0.59945	0.2231	M	0.84511	2.7	0.38670	D	0.952284	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.994;0.996	T	0.69650	-0.5088	10	0.72032	D	0.01	.	14.3496	0.66691	0.0:0.0:0.0:1.0	.	85;373;32	E7EQK3;E9PDB0;Q8IV35	.;.;WDR49_HUMAN	Y	32;373;85	ENSP00000311343:N32Y;ENSP00000419749:N373Y;ENSP00000410863:N85Y	ENSP00000311343:N32Y	N	-	1	0	WDR49	168804792	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.598000	0.67585	2.028000	0.59812	0.533000	0.62120	AAT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		8	27	0	0	0	0.006214	0	8	27				
ATP11B	23200	broad.mit.edu	37	3	182591803	182591804	+	Splice_Site	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:182591803_182591804GG>TT	ENST00000323116.5	+	19	2512	c.2252_2252GG>TT	c.(2251-2253)aGGg>aTTgg	p.R751I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	751					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTTGCCAGAAGGTAAGAATATA	0.436																																							uc003flb.2		NA																	0				ovary(2)|pancreas(1)	3						c.e19+1		ATPase, class VI, type 11B																																				SO:0001630	splice_region_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182591803_182591804GG>TT	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	Exception_encountered	3.37:g.182591803_182591804delinsTT						ATP11B_uc003flc.2_Splice_Site_p.R335_splice|ATP11B_uc011bqm.1_Splice_Site_p.R55_splice|ATP11B_uc010hxf.1_Splice_Site	p.R751_splice	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		19	2509	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)							Q96FN1|Q9UKK7	Splice_Site	DNP	ENST00000323116.5	37	c.2252_splice	CCDS33896.1																																																																																				0.436	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	Missense_Mutation	6	13	0	0	0	0.004672	0	6	13				
ZNF595	152687	broad.mit.edu	37	4	86116	86116	+	3'UTR	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:86116C>T	ENST00000339368.6	+	0	925							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGACGGTCCACAGTTCTGAAC	0.413																																							uc003fzv.1		NA																	0					0						c.(721-723)ACA>ATA		zinc finger protein 595							27.0	29.0	28.0					4																	86116		2126	4259	6385	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86116C>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*922C>T	4.37:g.86116C>T						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.T9I|ZNF595_uc011but.1_Missense_Mutation_p.T9I	p.T241I	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	878	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	241						Missense_Mutation	SNP	ENST00000339368.6	37	c.722C>T																																																																																					0.413	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		11	26	0	0	0	0.010729	0	11	26				
GAK	2580	broad.mit.edu	37	4	891884	891884	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:891884C>A	ENST00000314167.4	-	6	698	c.588G>T	c.(586-588)acG>acT	p.T196T	GAK_ENST00000511163.1_Silent_p.T117T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGAGATGGTCGTGGCACTGC	0.567																																							uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(586-588)ACG>ACT		cyclin G associated kinase							138.0	114.0	122.0					4																	891884		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:891884C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.588G>T	4.37:g.891884C>A						GAK_uc003gbn.3_Silent_p.T117T|GAK_uc010ibk.1_Silent_p.T90T|GAK_uc003gbl.3_Silent_p.T60T	p.T196T	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	6	787	-			196			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.588G>T	CCDS3340.1																																																																																				0.567	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		10	21	1	0	6.40141e-05	0.010729	7.14963e-05	10	21				
POLN	353497	broad.mit.edu	37	4	2209923	2209923	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:2209923T>C	ENST00000511885.2	-	5	858	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	POLN_ENST00000382865.1_Missense_Mutation_p.S169G|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	169					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATTTGTTTACTTGTTTTCTCT	0.303								DNA polymerases (catalytic subunits)																															uc003ger.2		NA																	0				kidney(2)|ovary(1)|skin(1)	4						c.(505-507)AGT>GGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							94.0	92.0	93.0					4																	2209923		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2209923T>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.505A>G	4.37:g.2209923T>C	ENSP00000435506:p.Ser169Gly					POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S169G	p.S169G	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		3	505	-			169					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.505A>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343816	0.41498	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.51574	0.7;0.7	5.27	1.51	0.23008	.	0.655365	0.15698	N	0.249097	T	0.28830	0.0715	L	0.32530	0.975	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.12156	0.006;0.007	T	0.16364	-1.0405	10	0.17369	T	0.5	-1.7094	3.7612	0.08604	0.0:0.1934:0.1904:0.6161	.	169;169	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	G	169	ENSP00000435506:S169G;ENSP00000372316:S169G	ENSP00000372316:S169G	S	-	1	0	POLN	2179721	0.001000	0.12720	0.013000	0.15412	0.568000	0.35870	0.358000	0.20216	0.311000	0.23014	0.459000	0.35465	AGT		0.303	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		4	15	0	0	0	0.009096	0	4	15				
BOD1L1	259282	broad.mit.edu	37	4	13603505	13603505	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:13603505T>C	ENST00000040738.5	-	10	5154	c.5019A>G	c.(5017-5019)atA>atG	p.I1673M		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1673						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCCTTCAACTATTTCTGAGT	0.393																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(5017-5019)ATA>ATG		biorientation of chromosomes in cell division							187.0	210.0	202.0					4																	13603505		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603505T>C	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.5019A>G	4.37:g.13603505T>C	ENSP00000040738:p.Ile1673Met					BOD1L_uc010idr.1_Missense_Mutation_p.I1010M	p.I1673M	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5136	-			1673					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5019A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	3.057	-0.194134	0.06259	.	.	ENSG00000038219	ENST00000040738	T	0.06933	3.24	4.52	-9.03	0.00737	.	0.927257	0.09079	N	0.851526	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.40942	-0.9536	10	0.41790	T	0.15	-10.4957	3.7462	0.08549	0.1075:0.2277:0.4628:0.202	.	1673	Q8NFC6	BOD1L_HUMAN	M	1673	ENSP00000040738:I1673M	ENSP00000040738:I1673M	I	-	3	3	BOD1L	13212603	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.597000	0.05713	-2.016000	0.00945	-0.388000	0.06559	ATA		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		60	109	0	0	0	0.01441	0	60	109				
OCIAD2	132299	broad.mit.edu	37	4	48899870	48899870	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:48899870C>T	ENST00000508632.1	-	4	400	c.168G>A	c.(166-168)ctG>ctA	p.L56L	OCIAD2_ENST00000273860.4_Silent_p.L56L|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	56	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GAGAAAAAGGCAGAGCTGTAA	0.353																																							uc003gyt.2		NA																	0					0						c.(166-168)CTG>CTA		OCIA domain containing 2 isoform 1							85.0	90.0	88.0					4																	48899870		2203	4300	6503	SO:0001819	synonymous_variant	132299					endosome		g.chr4:48899870C>T	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.168G>A	4.37:g.48899870C>T						OCIAD2_uc003gyu.2_Silent_p.L56L	p.L56L	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN			4	371	-			56			OCIA.		B4DPE7|Q8N544	Silent	SNP	ENST00000508632.1	37	c.168G>A	CCDS33981.1																																																																																				0.353	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		7	31	0	0	0	0.006214	0	7	31				
EPHA5	2044	broad.mit.edu	37	4	66467428	66467428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:66467428C>A	ENST00000273854.3	-	3	1441	c.841G>T	c.(841-843)Gag>Tag	p.E281*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E281*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E281*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E281*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	281	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACCAGCCACTCCCCTTCGGCG	0.532										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(841-843)GAG>TAG		ephrin receptor EphA5 isoform a precursor							77.0	79.0	79.0					4																	66467428		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467428C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.841G>T	4.37:g.66467428C>A	ENSP00000273854:p.Glu281*	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Nonsense_Mutation_p.E212*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E281*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E281*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E281*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E281*	p.E281*	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1034	-			281			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.841G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	44	11.221445	0.99533	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000273854:E281X	E	-	1	0	EPHA5	66150023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAG		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		21	65	1	0	7.88262e-20	0.00333	1.30786e-19	21	65				
TMPRSS11D	9407	broad.mit.edu	37	4	68699078	68699078	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:68699078A>T	ENST00000283916.6	-	7	634	c.536T>A	c.(535-537)cTa>cAa	p.L179Q	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.L62Q|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	179					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAATGTTATTAGGTCTGGACC	0.488																																							uc003hdq.2		NA																	0				ovary(1)	1						c.(535-537)CTA>CAA		transmembrane protease, serine 11D							130.0	122.0	125.0					4																	68699078		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68699078A>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.536T>A	4.37:g.68699078A>T	ENSP00000283916:p.Leu179Gln					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.L62Q	p.L179Q	NM_004262	NP_004253	O60235	TM11D_HUMAN			7	601	-			179			Extracellular (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.536T>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836506	0.32421	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88509	-2.39;-2.38	5.6	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);	0.152498	0.30649	N	0.009171	D	0.84804	0.5553	N	0.08118	0	0.34277	D	0.681674	D	0.89917	1.0	D	0.73380	0.98	D	0.84729	0.0744	10	0.29301	T	0.29	.	6.2687	0.20943	0.8253:0.0:0.1747:0.0	.	179	O60235	TM11D_HUMAN	Q	179;62	ENSP00000283916:L179Q;ENSP00000442045:L62Q	ENSP00000283916:L179Q	L	-	2	0	TMPRSS11D	68381673	0.617000	0.27043	0.953000	0.39169	0.737000	0.42083	0.821000	0.27338	2.127000	0.65507	0.528000	0.53228	CTA		0.488	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		68	121	0	0	0	0.01441	0	68	121				
CABS1	85438	broad.mit.edu	37	4	71201476	71201476	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:71201476C>A	ENST00000273936.5	+	1	794	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	240					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAAAATAACCGAAATTGACC	0.418																																							uc003hff.2		NA																	0					0						c.(718-720)ACC>ACA		testis development protein NYD-SP26							104.0	105.0	105.0					4																	71201476		2203	4300	6503	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201476C>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.720C>A	4.37:g.71201476C>A							p.T240T	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	806	+		all_hematologic(202;0.196)	240					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.720C>A	CCDS3539.1																																																																																				0.418	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		7	37	1	0	5.18039e-06	0.00308	6.03405e-06	7	37				
SEC31A	22872	broad.mit.edu	37	4	83748591	83748591	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:83748591G>T	ENST00000395310.2	-	24	3404	c.3222C>A	c.(3220-3222)ggC>ggA	p.G1074G	SEC31A_ENST00000443462.2_Silent_p.G1054G|SEC31A_ENST00000448323.1_Silent_p.G1074G|SEC31A_ENST00000264405.5_Silent_p.G823G|SEC31A_ENST00000355196.2_Silent_p.G1074G|SEC31A_ENST00000508502.1_Silent_p.G1059G|SEC31A_ENST00000509142.1_Silent_p.G960G|SEC31A_ENST00000326950.5_Silent_p.G1035G|SEC31A_ENST00000432794.1_Silent_p.G1087G|SEC31A_ENST00000500777.2_Silent_p.G921G|SEC31A_ENST00000348405.4_Silent_p.G1035G|SEC31A_ENST00000311785.7_Silent_p.G960G|SEC31A_ENST00000513858.1_Silent_p.G921G|SEC31A_ENST00000505984.1_Silent_p.G1020G|SEC31A_ENST00000505472.1_Silent_p.G1105G	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1074	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATGGTGGCATGCCTGTTTGAC	0.502																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3220-3222)GGC>GGA		SEC31 homolog A isoform 1							185.0	178.0	180.0					4																	83748591		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83748591G>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3222C>A	4.37:g.83748591G>T						SEC31A_uc003hnd.2_Silent_p.G243G|SEC31A_uc003hne.2_Silent_p.G823G|SEC31A_uc011ccl.1_Silent_p.G1020G|SEC31A_uc003hnl.2_Silent_p.G921G|SEC31A_uc003hng.2_Silent_p.G1059G|SEC31A_uc003hnh.2_Silent_p.G1074G|SEC31A_uc003hni.2_Silent_p.G960G|SEC31A_uc003hnj.2_Silent_p.G1035G|SEC31A_uc011ccm.1_Silent_p.G1054G|SEC31A_uc011ccn.1_Silent_p.G1059G|SEC31A_uc003hnk.2_Silent_p.G1035G|SEC31A_uc003hnm.2_Silent_p.G1074G	p.G1074G	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3386	-		Hepatocellular(203;0.114)	1074			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3222C>A	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.355|0.355	-0.942504|-0.942504	0.02322|0.02322	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000515062;ENST00000511338	.|.	.|.	.|.	5.63|5.63	2.54|2.54	0.30619|0.30619	.|.	.|.	.|.	.|.	.|.	T|T	0.55114|0.55114	0.1900|0.1900	.|.	.|.	.|.	0.53688|0.53688	D|D	0.999973|0.999973	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48258|0.48258	-0.9051|-0.9051	4|4	.|.	.|.	.|.	-4.9659|-4.9659	6.9075|6.9075	0.24317|0.24317	0.2257:0.0:0.6478:0.1265|0.2257:0.0:0.6478:0.1265	.|.	.|.	.|.	.|.	E|N	237|59;171	.|.	.|.	A|H	-|-	2|1	0|0	SEC31A|SEC31A	83967615|83967615	0.764000|0.764000	0.28473|0.28473	1.000000|1.000000	0.80357|0.80357	0.048000|0.048000	0.14542|0.14542	1.164000|1.164000	0.31810|0.31810	0.741000|0.741000	0.32674|0.32674	0.561000|0.561000	0.74099|0.74099	GCA|CAT		0.502	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		39	84	1	0	5.71845e-15	0.005524	8.67859e-15	39	84				
HSP90AB3P	3327	broad.mit.edu	37	4	88814021	88814021	+	IGR	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:88814021T>A								MEPE (46052 upstream) : SPP1 (82797 downstream)																							CCCTTTGACCTTTTTGAGAAC	0.443																																							uc010iko.1		NA																	0					NA						c.(853-855)CTT>CAT		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88814021T>A																													4.37:g.88814021T>A							p.L285H							3	854	+									Missense_Mutation	SNP		37	c.854T>A																																																																																				0	0.443									29	75	0	0	0	0.010818	0	29	75				
GRID2	2895	broad.mit.edu	37	4	94006431	94006431	+	Splice_Site	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:94006431G>A	ENST00000282020.4	+	3	787		c.e3+1		GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_Splice_Site	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGTGAATACGGTAAGTGTTTA	0.343																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.e3+1		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						78.0	81.0	80.0					4																	94006431		2203	4300	6503	SO:0001630	splice_region_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006431G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.529+1G>A	4.37:g.94006431G>A						GRID2_uc010ikx.2_Splice_Site_p.D177_splice|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_Splice_Site	p.D177_splice	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	787	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)						E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Splice_Site	SNP	ENST00000282020.4	37	c.529_splice	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117750	0.77323	.	.	ENSG00000152208	ENST00000282020	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1731	0.93588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRID2	94225454	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.804000	0.99143	2.613000	0.88420	0.655000	0.94253	.		0.343	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		Intron	17	55	0	0	0	0.00499	0	17	55				
PCDH10	57575	broad.mit.edu	37	4	134072410	134072410	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:134072410C>A	ENST00000264360.5	+	1	1941	c.1115C>A	c.(1114-1116)gCg>gAg	p.A372E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GAGGGCGCGGCGCCCGGCACT	0.622																																							uc003iha.2		NA																	0				ovary(2)	2						c.(1114-1116)GCG>GAG		protocadherin 10 isoform 1 precursor							77.0	78.0	78.0					4																	134072410		2202	4300	6502	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072410C>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.1115C>A	4.37:g.134072410C>A	ENSP00000264360:p.Ala372Glu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A372E	p.A372E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1941	+			372			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1115C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944194	0.18281	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.02763	4.17	4.68	4.68	0.58851	Cadherin (3);Cadherin-like (1);	0.000000	0.44902	D	0.000402	T	0.08891	0.0220	L	0.48218	1.51	0.80722	D	1	D;B	0.71674	0.998;0.239	D;B	0.63113	0.911;0.231	T	0.50030	-0.8875	10	0.14656	T	0.56	.	17.3997	0.87456	0.0:1.0:0.0:0.0	.	372;372	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	372	ENSP00000264360:A372E	ENSP00000264360:A372E	A	+	2	0	PCDH10	134291860	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.703000	0.61824	2.423000	0.82170	0.561000	0.74099	GCG		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		33	46	1	0	4.31634e-10	0.012213	5.78144e-10	33	46				
FSTL5	56884	broad.mit.edu	37	4	162380377	162380377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:162380377G>T	ENST00000306100.5	-	14	2139	c.1703C>A	c.(1702-1704)tCa>tAa	p.S568*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.S558*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.S567*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.S567*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	568						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTGTTGGTGATGTCTTCTC	0.373																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1702-1704)TCA>TAA		follistatin-like 5 isoform a							136.0	124.0	128.0					4																	162380377		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162380377G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1703C>A	4.37:g.162380377G>T	ENSP00000305334:p.Ser568*					FSTL5_uc003iqi.2_Nonsense_Mutation_p.S567*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.S558*	p.S568*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	14	2139	-	all_hematologic(180;0.24)		568					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.1703C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	g	40	8.508299	0.98841	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.18	5.18	0.71444	.	0.253509	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.4386	0.61099	0.0783:0.0:0.9217:0.0	.	.	.	.	X	568;567;558;567	.	ENSP00000305334:S568X	S	-	2	0	FSTL5	162599827	1.000000	0.71417	0.554000	0.28268	0.829000	0.46940	4.032000	0.57274	2.567000	0.86603	0.645000	0.84053	TCA		0.373	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	34	1	0	1.36565e-18	0.00278	2.23706e-18	18	34				
DDX60L	91351	broad.mit.edu	37	4	169341505	169341505	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:169341505A>T	ENST00000511577.1	-	18	2668	c.2421T>A	c.(2419-2421)acT>acA	p.T807T	DDX60L_ENST00000505890.1_Silent_p.T807T|DDX60L_ENST00000260184.7_Silent_p.T807T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	807	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GATTCTCAACAGTTGCAGCCA	0.403																																							uc003irq.3		NA																	0				ovary(1)	1						c.(2419-2421)ACT>ACA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							52.0	50.0	51.0					4																	169341505		1946	4175	6121	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169341505A>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2421T>A	4.37:g.169341505A>T						DDX60L_uc003irr.1_Silent_p.T807T|DDX60L_uc003irs.1_Silent_p.T534T	p.T807T	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	18	2642	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	807			Helicase ATP-binding.		Q96ND6	Silent	SNP	ENST00000511577.1	37	c.2421T>A																																																																																					0.403	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	14	0	0	0	0.000602	0	5	14				
ADAMTS16	170690	broad.mit.edu	37	5	5146296	5146296	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:5146296C>A	ENST00000274181.7	+	3	367	c.229C>A	c.(229-231)Cat>Aat	p.H77N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H77N|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	77					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTACGTGTCCCATGAAATCAT	0.532																																							uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(229-231)CAT>AAT		ADAM metallopeptidase with thrombospondin type 1							62.0	61.0	62.0					5																	5146296		2024	4185	6209	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146296C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.229C>A	5.37:g.5146296C>A	ENSP00000274181:p.His77Asn					ADAMTS16_uc003jdk.1_Missense_Mutation_p.H77N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H77N	p.H77N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	367	+			77					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.229C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627337	0.46944	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.64618	0.03;-0.11	5.55	4.67	0.58626	Peptidase M12B, propeptide (1);	0.204155	0.39210	N	0.001429	T	0.67107	0.2858	M	0.82630	2.6	0.54753	D	0.99998	P;B;B	0.39717	0.684;0.118;0.237	B;B;B	0.40782	0.322;0.168;0.34	T	0.69355	-0.5167	10	0.37606	T	0.19	.	14.0249	0.64580	0.0:0.9248:0.0:0.0752	.	77;77;77	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	77	ENSP00000274181:H77N;ENSP00000421631:H77N	ENSP00000274181:H77N	H	+	1	0	ADAMTS16	5199296	0.744000	0.28250	0.934000	0.37439	0.674000	0.39518	1.997000	0.40786	1.450000	0.47717	0.563000	0.77884	CAT		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		18	77	1	0	2.94398e-08	0.007413	3.70511e-08	18	77				
ADCY2	108	broad.mit.edu	37	5	7766919	7766919	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:7766919G>T	ENST00000338316.4	+	17	2303	c.2214G>T	c.(2212-2214)ccG>ccT	p.P738P	ADCY2_ENST00000537121.1_Splice_Site_p.P558P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	738					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCCTCCCGGTAAGAACAT	0.423																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2212-2214)CCG>CCT		adenylate cyclase 2							190.0	197.0	194.0					5																	7766919		2203	4300	6503	SO:0001630	splice_region_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766919G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2214+1G>T	5.37:g.7766919G>T						ADCY2_uc011cmo.1_Silent_p.P558P	p.P738P	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			17	2281	+			738			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2214G>T	CCDS3872.2																																																																																				0.423	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Silent	43	175	1	0	2.01807e-28	0.01441	3.51799e-28	43	175				
SEMA5A	9037	broad.mit.edu	37	5	9052006	9052006	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:9052006A>G	ENST00000382496.5	-	20	3489	c.2824T>C	c.(2824-2826)Ttt>Ctt	p.F942L	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	942	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTAGAGTCAAACACACACGGC	0.507																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2824-2826)TTT>CTT		semaphorin 5A precursor							53.0	55.0	55.0					5																	9052006		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052006A>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2824T>C	5.37:g.9052006A>G	ENSP00000371936:p.Phe942Leu						p.F942L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			20	3536	-			942			Extracellular (Potential).|TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2824T>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486412	0.26686	.	.	ENSG00000112902	ENST00000382496	T	0.32988	1.43	5.12	3.87	0.44632	.	0.172325	0.53938	D	0.000056	T	0.09202	0.0227	N	0.00873	-1.125	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.27226	-1.0080	10	0.15499	T	0.54	.	10.0627	0.42284	0.8314:0.1686:0.0:0.0	.	942	Q13591	SEM5A_HUMAN	L	942	ENSP00000371936:F942L	ENSP00000371936:F942L	F	-	1	0	SEMA5A	9105006	0.600000	0.26899	0.178000	0.23040	0.570000	0.35934	2.231000	0.43009	2.055000	0.61198	0.533000	0.62120	TTT		0.507	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			23	65	0	0	0	0.00333	0	23	65				
FBXL7	23194	broad.mit.edu	37	5	15928183	15928183	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:15928183C>A	ENST00000504595.1	+	3	793	c.312C>A	c.(310-312)gcC>gcA	p.A104A	FBXL7_ENST00000510662.1_Silent_p.A57A|FBXL7_ENST00000329673.7_Silent_p.A92A	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	104					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCGGCTCGCCTCCAGACCCC	0.687																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(310-312)GCC>GCA		F-box and leucine-rich repeat protein 7							18.0	24.0	22.0					5																	15928183		2035	4182	6217	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928183C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.312C>A	5.37:g.15928183C>A							p.A104A	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	793	+			104					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.312C>A	CCDS54833.1																																																																																				0.687	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	28	1	0	0.00198382	0.001984	0.00209335	7	28				
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:23526445C>A	ENST00000296682.3	+	11	1430	c.1248C>A	c.(1246-1248)ttC>ttA	p.F416L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	416					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGAACTTCCCAGGACCAT	0.488										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1246-1248)TTC>TTA		PR domain containing 9							125.0	118.0	120.0					5																	23526445		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526445C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1248C>A	5.37:g.23526445C>A	ENSP00000296682:p.Phe416Leu	HNSCC(3;0.000094)					p.F416L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1430	+			416					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1248C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505585	0.12822	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.07800	3.16	3.55	1.61	0.23674	Zinc finger, C2H2 (1);	0.764786	0.10686	N	0.645791	T	0.04907	0.0132	N	0.17594	0.5	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.46735	-0.9170	10	0.21014	T	0.42	-5.6613	6.235	0.20758	0.1827:0.7069:0.0:0.1104	.	416	Q9NQV7	PRDM9_HUMAN	L	416;210	ENSP00000296682:F416L	ENSP00000253473:F210L	F	+	3	2	PRDM9	23562202	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	1.184000	0.32053	0.211000	0.20683	-0.422000	0.05995	TTC		0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		23	84	1	0	2.89027e-11	0.014323	3.97701e-11	23	84				
CDH10	1008	broad.mit.edu	37	5	24491722	24491722	+	Silent	SNP	G	G	T	rs141786276		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:24491722G>T	ENST00000264463.4	-	11	2346	c.1839C>A	c.(1837-1839)gcC>gcA	p.A613A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	613					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGGCGATCAAGGCCCCAGTGC	0.498										HNSCC(23;0.051)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		13963	0.0		0.0	False		,,,				2504	0.0						uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1837-1839)GCC>GCA		cadherin 10, type 2 preproprotein							105.0	98.0	100.0					5																	24491722		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491722G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1839C>A	5.37:g.24491722G>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A613A	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2171	-			613			Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1839C>A	CCDS3892.1																																																																																				0.498	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		20	100	1	0	7.41877e-09	0.012319	9.45207e-09	20	100				
NPR3	4883	broad.mit.edu	37	5	32739072	32739072	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:32739072T>C	ENST00000265074.8	+	3	1338	c.995T>C	c.(994-996)tTt>tCt	p.F332S	NPR3_ENST00000434067.2_Missense_Mutation_p.F116S|NPR3_ENST00000415167.2_Missense_Mutation_p.F332S|NPR3_ENST00000415685.2_Missense_Mutation_p.F116S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	332					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)	AAACCTGAGTTTGAGAAGTTT	0.453																																							uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(994-996)TTT>TCT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						128.0	125.0	126.0					5																	32739072		1880	4103	5983	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.chr5:32739072T>C		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.995T>C	5.37:g.32739072T>C	ENSP00000265074:p.Phe332Ser					NPR3_uc010iuo.2_Missense_Mutation_p.F116S|NPR3_uc011cnz.1_Missense_Mutation_p.F116S|NPR3_uc003jhu.2_Missense_Mutation_p.F332S	p.F332S	NM_000908	NP_000899	P17342	ANPRC_HUMAN			3	1213	+			332			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.995T>C	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815688	0.90790	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	6.04	6.04	0.98038	Extracellular ligand-binding receptor (1);	0.095420	0.85682	D	0.000000	D	0.92312	0.7561	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;0.966;1.0;1.0	D	0.92366	0.5901	10	0.51188	T	0.08	-8.1135	16.5763	0.84648	0.0:0.0:0.0:1.0	.	116;116;332;332	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	S	109;116;116;332;332	ENSP00000425325:F109S;ENSP00000388408:F116S;ENSP00000402490:F116S;ENSP00000265074:F332S;ENSP00000398028:F332S	ENSP00000265074:F332S	F	+	2	0	NPR3	32774829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.510000	0.67018	2.317000	0.78254	0.459000	0.35465	TTT		0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		20	68	0	0	0	0.00278	0	20	68				
HCN1	348980	broad.mit.edu	37	5	45396684	45396684	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:45396684G>A	ENST00000303230.4	-	4	1197	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	380					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCCCCGACGATCATGCTCA	0.517																																							uc003jok.2		NA																	0				ovary(1)	1						c.(1138-1140)ATC>ATT		hyperpolarization activated cyclic							94.0	79.0	84.0					5																	45396684		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396684G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1140C>T	5.37:g.45396684G>A							p.I380I	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1165	-			380			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000303230.4	37	c.1140C>T	CCDS3952.1																																																																																				0.517	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	63	0	0	0	0.007413	0	15	63				
DHX29	54505	broad.mit.edu	37	5	54581634	54581635	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:54581634_54581635CC>AA	ENST00000251636.5	-	9	1269_1270	c.1121_1122GG>TT	c.(1120-1122)tGG>tTT	p.W374F	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	374						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATTTTCCAGTCCAACTTCGAGC	0.347																																							uc003jpx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1120-1122)TGG>TTT		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54581634_54581635CC>AA	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1121_1122delinsAA	5.37:g.54581634_54581635delinsAA	ENSP00000251636:p.Trp374Phe					DHX29_uc010ivw.2_RNA	p.W374F	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			9	1241_1242	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	374					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	DNP	ENST00000251636.5	37	c.1121_1122GG>TT	CCDS34158.1																																																																																				0.347	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		5	22	0	0	0	0.004672	0	5	22				
GPR98	84059	broad.mit.edu	37	5	89979496	89979496	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:89979496A>G	ENST00000405460.2	+	28	5854	c.5758A>G	c.(5758-5760)Atc>Gtc	p.I1920V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1920	Calx-beta 13. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTGGCAACATCACATTTGA	0.468																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(5758-5760)ATC>GTC		G protein-coupled receptor 98 precursor							94.0	93.0	93.0					5																	89979496		1947	4138	6085	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979496A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5758A>G	5.37:g.89979496A>G	ENSP00000384582:p.Ile1920Val					GPR98_uc003kjt.2_5'UTR	p.I1920V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	5854	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1920			Calx-beta 13.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.5758A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	3.933	-0.015725	0.07681	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.24151	1.87	5.56	-5.87	0.02297	Na-Ca exchanger/integrin-beta4 (1);	0.336829	0.35013	N	0.003509	T	0.09512	0.0234	N	0.16743	0.435	0.54753	D	0.999981	B	0.09022	0.002	B	0.13407	0.009	T	0.41610	-0.9499	10	0.05959	T	0.93	.	9.5632	0.39383	0.5306:0.1319:0.3375:0.0	.	1920	Q8WXG9	GPR98_HUMAN	V	1920	ENSP00000384582:I1920V	ENSP00000296619:I1920V	I	+	1	0	GPR98	90015252	0.030000	0.19436	0.279000	0.24732	0.930000	0.56654	0.339000	0.19875	-1.099000	0.03034	-0.468000	0.05107	ATC		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		9	25	0	0	0	0.001855	0	9	25				
ALDH7A1	501	broad.mit.edu	37	5	125885926	125885926	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:125885926G>C	ENST00000409134.3	-	15	1596	c.1377C>G	c.(1375-1377)atC>atG	p.I459M	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I395M|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I422M	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	459					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CTTTGGTAAAGATGCTACTTG	0.358																																							uc003ktx.2		NA																	0				kidney(2)|ovary(1)	3						c.(1375-1377)ATC>ATG		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						123.0	120.0	121.0					5																	125885926		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125885926G>C	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1377C>G	5.37:g.125885926G>C	ENSP00000387123:p.Ile459Met					ALDH7A1_uc003ktv.2_Missense_Mutation_p.I80M|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I422M	p.I459M	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	15	1569	-		all_cancers(142;0.24)|Prostate(80;0.081)	459					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1377C>G	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347278	0.41599	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	T;T;T	0.80480	-1.38;-1.38;-1.38	4.59	0.743	0.18347	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.89785	3.06	0.38032	D	0.935182	P;B	0.35793	0.521;0.067	B;B	0.37239	0.244;0.074	T	0.77324	-0.2630	10	0.66056	D	0.02	.	6.1322	0.20211	0.2198:0.0:0.6495:0.1306	.	422;459	E7EPT3;P49419	.;AL7A1_HUMAN	M	459;395;422;267	ENSP00000387123:I459M;ENSP00000448593:I395M;ENSP00000414132:I422M	ENSP00000387123:I459M	I	-	3	3	ALDH7A1	125913825	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	1.813000	0.38962	0.020000	0.15106	-0.291000	0.09656	ATC		0.358	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		9	27	0	0	0	0.013537	0	9	27				
FBN2	2201	broad.mit.edu	37	5	127638739	127638739	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:127638739C>G	ENST00000508053.1	-	52	6817	c.5843G>C	c.(5842-5844)tGt>tCt	p.C1948S	FBN2_ENST00000262464.4_Missense_Mutation_p.C1948S			P35556	FBN2_HUMAN	fibrillin 2	1948	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTGTTTTTACAAGTTCCATT	0.363																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5842-5844)TGT>TCT		fibrillin 2 precursor							151.0	153.0	152.0					5																	127638739		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638739C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5843G>C	5.37:g.127638739C>G	ENSP00000424571:p.Cys1948Ser						p.C1948S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6282	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1948			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5843G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424265	0.83667	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99429	-5.89;-5.89	5.18	4.29	0.51040	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.093881	0.47455	D	0.000221	D	0.99641	0.9868	H	0.99312	4.51	0.80722	D	1	D	0.58268	0.982	P	0.54759	0.76	D	0.97535	1.0082	10	0.87932	D	0	.	14.287	0.66251	0.0:0.927:0.0:0.073	.	1948	P35556	FBN2_HUMAN	S	1948	ENSP00000262464:C1948S;ENSP00000424571:C1948S	ENSP00000262464:C1948S	C	-	2	0	FBN2	127666638	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.609000	0.82925	2.700000	0.92200	0.655000	0.94253	TGT		0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	63	0	0	0	0.013726	0	26	63				
DDX46	9879	broad.mit.edu	37	5	134143536	134143536	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:134143536G>A	ENST00000354283.4	+	16	2188	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	DDX46_ENST00000452510.2_Missense_Mutation_p.V685M			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	685	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTCTAGATGTGAAACATCT	0.428																																					Colon(13;391 453 4901 21675 24897)	Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	0				ovary(1)	1						c.(2053-2055)GTG>ATG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							82.0	84.0	83.0					5																	134143536		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134143536G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2053G>A	5.37:g.134143536G>A	ENSP00000346236:p.Val685Met					DDX46_uc003kzv.1_RNA	p.V685M	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		16	2221	+			685			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2053G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987761	0.93106	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.77489	-1.1;-1.1	5.27	5.27	0.74061	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90581	0.4529	10	0.87932	D	0	-14.892	19.2578	0.93952	0.0:0.0:1.0:0.0	.	685	Q7L014	DDX46_HUMAN	M	685	ENSP00000416534:V685M;ENSP00000346236:V685M	ENSP00000346236:V685M	V	+	1	0	DDX46	134171435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.628000	0.89032	0.561000	0.74099	GTG		0.428	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		11	33	0	0	0	0.013537	0	11	33				
PCDHA1	56147	broad.mit.edu	37	5	140166363	140166363	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140166363G>T	ENST00000504120.2	+	1	488	c.488G>T	c.(487-489)gGt>gTt	p.G163V	PCDHA1_ENST00000394633.3_Missense_Mutation_p.G163V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G163V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACATTGGTGCTAACGCT	0.443																																							uc003lhb.2		NA																	0				skin(1)	1						c.(487-489)GGT>GTT		protocadherin alpha 1 isoform 1 precursor							92.0	101.0	98.0					5																	140166363		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166363G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.488G>T	5.37:g.140166363G>T	ENSP00000420840:p.Gly163Val					PCDHA1_uc003lha.2_Missense_Mutation_p.G163V|PCDHA1_uc003lgz.2_Missense_Mutation_p.G163V	p.G163V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	488	+			163			Cadherin 2.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.488G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850569	0.71719	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.28454	1.61;1.61;1.61	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.43260	U	0.000586	T	0.75525	0.3861	H	0.99867	4.865	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.989;0.996;0.983	D	0.88555	0.3119	10	0.87932	D	0	.	16.7215	0.85411	0.0:0.0:1.0:0.0	.	163;163;163	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	163	ENSP00000420840:G163V;ENSP00000378129:G163V;ENSP00000367373:G163V	ENSP00000367373:G163V	G	+	2	0	PCDHA1	140146547	1.000000	0.71417	0.837000	0.33122	0.827000	0.46813	7.650000	0.83521	2.022000	0.59522	0.650000	0.86243	GGT		0.443	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		22	46	1	0	9.57634e-11	0.00333	1.31071e-10	22	46				
PCDHA1	56147	broad.mit.edu	37	5	140166396	140166396	+	Missense_Mutation	SNP	C	C	A	rs141972872		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140166396C>A	ENST00000504120.2	+	1	521	c.521C>A	c.(520-522)cCg>cAg	p.P174Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.P174Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P174Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCTCAGCCCGAGTGATTAT	0.413																																							uc003lhb.2		NA																	0				skin(1)	1						c.(520-522)CCG>CAG		protocadherin alpha 1 isoform 1 precursor							79.0	88.0	85.0					5																	140166396		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166396C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.521C>A	5.37:g.140166396C>A	ENSP00000420840:p.Pro174Gln					PCDHA1_uc003lha.2_Missense_Mutation_p.P174Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.P174Q	p.P174Q	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	521	+			174			Cadherin 2.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.521C>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204171	0.22205	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.20332	2.08;2.08;2.08	4.13	2.08	0.27032	Cadherin (4);Cadherin-like (1);	0.165419	0.28566	U	0.014895	T	0.27134	0.0665	L	0.55834	1.745	0.09310	N	1	B;B;P	0.36990	0.249;0.382;0.577	P;B;B	0.45119	0.47;0.121;0.136	T	0.12041	-1.0563	10	0.52906	T	0.07	.	11.9702	0.53060	0.3144:0.6855:0.0:0.0	.	174;174;174	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	174	ENSP00000420840:P174Q;ENSP00000378129:P174Q;ENSP00000367373:P174Q	ENSP00000367373:P174Q	P	+	2	0	PCDHA1	140146580	0.000000	0.05858	0.004000	0.12327	0.517000	0.34286	1.028000	0.30128	0.826000	0.34661	0.650000	0.86243	CCG		0.413	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		16	34	1	0	1.15088e-07	0.004007	1.4006e-07	16	34				
PCDHA11	56138	broad.mit.edu	37	5	140250092	140250092	+	Silent	SNP	A	A	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140250092A>C	ENST00000398640.2	+	1	1404	c.1404A>C	c.(1402-1404)ccA>ccC	p.P468P	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCACCAGGCTGCC	0.672																																							uc003lia.2		NA																	0				breast(1)	1						c.(1402-1404)CCA>CCC		protocadherin alpha 11 isoform 1 precursor							105.0	110.0	108.0					5																	140250092		2203	4300	6503	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250092A>C	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1404A>C	5.37:g.140250092A>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.P468P	p.P468P	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2262	+			468			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1404A>C	CCDS47284.1																																																																																				0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		51	134	0	0	0	0.01441	0	51	134				
PCDHB3	56132	broad.mit.edu	37	5	140481843	140481843	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140481843G>T	ENST00000231130.2	+	1	1610	c.1610G>T	c.(1609-1611)gGc>gTc	p.G537V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGACCGTGGCTCCCCGGCT	0.677																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1609-1611)GGC>GTC		protocadherin beta 3 precursor							57.0	60.0	59.0					5																	140481843		2203	4295	6498	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481843G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1610G>T	5.37:g.140481843G>T	ENSP00000231130:p.Gly537Val					uc003lin.2_5'Flank	p.G537V	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1610	+			537			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1610G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431542	0.43122	.	.	ENSG00000113205	ENST00000231130	T	0.01685	4.69	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22360	0.0539	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55016	-0.8206	9	0.87932	D	0	.	16.1661	0.81757	0.0:0.0:1.0:0.0	.	537	Q9Y5E6	PCDB3_HUMAN	V	537	ENSP00000231130:G537V	ENSP00000231130:G537V	G	+	2	0	PCDHB3	140462027	1.000000	0.71417	0.273000	0.24645	0.005000	0.04900	9.287000	0.95975	1.959000	0.56917	0.558000	0.71614	GGC		0.677	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		28	52	1	0	1.39806e-14	0.008361	2.11553e-14	28	52				
PCDHB6	56130	broad.mit.edu	37	5	140531177	140531177	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140531177C>A	ENST00000231136.1	+	1	1339	c.1339C>A	c.(1339-1341)Ccc>Acc	p.P447T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P311T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGTCCCCGCCTTCAC	0.572																																							uc003lir.2		NA																	0				skin(1)	1						c.(1339-1341)CCC>ACC		protocadherin beta 6 precursor							104.0	108.0	107.0					5																	140531177		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531177C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1339C>A	5.37:g.140531177C>A	ENSP00000231136:p.Pro447Thr					PCDHB6_uc011dah.1_Missense_Mutation_p.P311T	p.P447T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1339	+			447			Cadherin 4.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1339C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859803	0.71834	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	D;D	0.84730	-1.89;-1.89	4.18	4.18	0.49190	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96312	0.8797	H	0.99794	4.785	0.51233	D	0.999919	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	9	0.87932	D	0	.	16.9318	0.86192	0.0:1.0:0.0:0.0	.	447	Q9Y5E3	PCDB6_HUMAN	T	311;447;232	ENSP00000438466:P311T;ENSP00000231136:P447T	ENSP00000231136:P447T	P	+	1	0	PCDHB6	140511361	1.000000	0.71417	0.813000	0.32504	0.804000	0.45430	7.637000	0.83313	2.046000	0.60703	0.485000	0.47835	CCC		0.572	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		37	109	1	0	2.61675e-31	0.013114	4.59267e-31	37	109				
PCDHB14	56122	broad.mit.edu	37	5	140603627	140603627	+	Missense_Mutation	SNP	G	G	A	rs370415569		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140603627G>A	ENST00000239449.4	+	1	550	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D31N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAATTCCCGACAGTAGTGA	0.418																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(550-552)GAC>AAC		protocadherin beta 14 precursor		G	ASN/ASP	1,4405		0,1,2202	75.0	78.0	77.0		550	2.8	0.0	5		77	0,8600		0,0,4300	no	missense	PCDHB14	NM_018934.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	184/799	140603627	1,13005	2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603627G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.550G>A	5.37:g.140603627G>A	ENSP00000239449:p.Asp184Asn					PCDHB14_uc011dal.1_Missense_Mutation_p.D31N	p.D184N	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	550	+			184			Cadherin 2.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.550G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.414	-0.911665	0.02434	2.27E-4	0.0	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50001	0.76;0.76	5.03	2.83	0.33086	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17959	0.0431	N	0.03071	-0.42	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.28554	-1.0040	9	0.06891	T	0.86	.	5.448	0.16546	0.2835:0.0:0.7165:0.0	.	184	Q9Y5E9	PCDBE_HUMAN	N	31;184	ENSP00000444518:D31N;ENSP00000239449:D184N	ENSP00000239449:D184N	D	+	1	0	PCDHB14	140583811	0.000000	0.05858	0.016000	0.15963	0.979000	0.70002	-0.030000	0.12308	1.254000	0.44035	0.655000	0.94253	GAC		0.418	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		23	43	0	0	0	0.00333	0	23	43				
TCERG1	10915	broad.mit.edu	37	5	145843189	145843190	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:145843189_145843190CT>TG	ENST00000296702.5	+	5	1006_1007	c.968_969CT>TG	c.(967-969)gCT>gTG	p.A323V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A323V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	323	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACTCCTGCTCCTACAGCCA	0.49																																							uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(967-969)GCT>GTG		transcription elongation regulator 1 isoform 1																																				SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843189_145843190CT>TG	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	Exception_encountered	5.37:g.145843189_145843190delinsTG	ENSP00000296702:p.Ala323Val					TCERG1_uc003loc.2_Missense_Mutation_p.A323V|TCERG1_uc011dbt.1_Missense_Mutation_p.A323V	p.A323V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1008_1009	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	323			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	DNP	ENST00000296702.5	37	c.968_969CT>TG	CCDS4282.1																																																																																				0.490	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		10	134	0	0	0	0.004672	0	10	134				
TCERG1	10915	broad.mit.edu	37	5	145843192	145843192	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:145843192C>T	ENST00000296702.5	+	5	1009	c.971C>T	c.(970-972)cCt>cTt	p.P324L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P324L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	324	Thr-rich.			P -> R (in Ref. 1; AAB80727). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCCTGCTCCTACAGCCACA	0.493																																							uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(970-972)CCT>CTT		transcription elongation regulator 1 isoform 1							238.0	211.0	220.0					5																	145843192		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843192C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.971C>T	5.37:g.145843192C>T	ENSP00000296702:p.Pro324Leu					TCERG1_uc003loc.2_Missense_Mutation_p.P324L|TCERG1_uc011dbt.1_Missense_Mutation_p.P324L	p.P324L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1011	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	324	P -> R (in Ref. 1; AAB80727).		Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.971C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580240	0.65992	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25749	1.78;1.79	5.16	5.16	0.70880	.	0.110097	0.64402	D	0.000005	T	0.24314	0.0589	L	0.39898	1.24	0.80722	D	1	P;P;P	0.42518	0.675;0.782;0.675	B;B;B	0.37989	0.134;0.262;0.134	T	0.02226	-1.1192	10	0.36615	T	0.2	-11.7163	18.6523	0.91435	0.0:1.0:0.0:0.0	.	324;324;324	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	324	ENSP00000296702:P324L;ENSP00000377943:P324L	ENSP00000296702:P324L	P	+	2	0	TCERG1	145823385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.372000	0.59530	2.392000	0.81423	0.563000	0.77884	CCT		0.493	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		10	133	0	0	0	0.011902	0	10	133				
SH3TC2	79628	broad.mit.edu	37	5	148388422	148388422	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:148388422G>C	ENST00000515425.1	-	15	3571	c.3470C>G	c.(3469-3471)aCa>aGa	p.T1157R	SH3TC2_ENST00000502274.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.T1150R|SH3TC2_ENST00000538184.1_Missense_Mutation_p.T704R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1157					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTGACTGTGCTGAGCCT	0.517																																							uc003lpu.2		NA																	0				ovary(2)	2						c.(3469-3471)ACA>AGA		SH3 domain and tetratricopeptide repeats 2							108.0	109.0	109.0					5																	148388422		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148388422G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3470C>G	5.37:g.148388422G>C	ENSP00000423660:p.Thr1157Arg					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T801R|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T704R|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1150R	p.T1157R	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	3622	-			1157					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3470C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539598	0.13250	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.80653	-1.4;-0.96;-0.93	6.03	4.16	0.48862	Tetratricopeptide-like helical (1);	0.644464	0.16464	N	0.213264	T	0.61211	0.2329	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.43310	-0.9399	10	0.10377	T	0.69	0.0118	7.5634	0.27864	0.3679:0.0:0.6321:0.0	.	1150;1157;1157	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	R	704;1157;1150	ENSP00000441427:T704R;ENSP00000423660:T1157R;ENSP00000421860:T1150R	ENSP00000425627:T1157R	T	-	2	0	SH3TC2	148368615	0.327000	0.24678	0.366000	0.25914	0.768000	0.43524	1.105000	0.31086	0.769000	0.33313	0.655000	0.94253	ACA		0.517	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		32	93	0	0	0	0.00623	0	32	93				
AFAP1L1	134265	broad.mit.edu	37	5	148691761	148691761	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:148691761G>A	ENST00000296721.4	+	9	1112	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	AFAP1L1_ENST00000515000.1_Silent_p.L338L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	338						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGACCTGGACAAGGTAT	0.587																																							uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(1012-1014)CTG>CTA		actin filament associated protein 1-like 1							100.0	91.0	94.0					5																	148691761		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148691761G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1014G>A	5.37:g.148691761G>A						AFAP1L1_uc003lqg.3_Silent_p.L338L|AFAP1L1_uc010jgy.2_Silent_p.L338L	p.L338L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1145	+			338					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.1014G>A	CCDS34274.1																																																																																				0.587	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		8	94	0	0	0	0.006214	0	8	94				
TNIP1	10318	broad.mit.edu	37	5	150429495	150429495	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:150429495C>G	ENST00000389378.2	-	8	1324	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	TNIP1_ENST00000315050.7_Missense_Mutation_p.E246Q|TNIP1_ENST00000521591.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000522226.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000518977.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000524280.1_Missense_Mutation_p.E246Q|TNIP1_ENST00000520931.1_Missense_Mutation_p.E193Q|TNIP1_ENST00000521423.1_5'Flank	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	246	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTGAGCTCCAAATTTTCC	0.512																																							uc003ltf.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(736-738)GAG>CAG		TNFAIP3 interacting protein 1							245.0	245.0	245.0					5																	150429495		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150429495C>G	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.736G>C	5.37:g.150429495C>G	ENSP00000374029:p.Glu246Gln					TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E246Q|TNIP1_uc010jhn.2_Missense_Mutation_p.E246Q|TNIP1_uc011dco.1_Missense_Mutation_p.E246Q|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E246Q|TNIP1_uc003ltg.2_Missense_Mutation_p.E193Q|TNIP1_uc003ltj.2_Missense_Mutation_p.E246Q|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhp.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhr.1_Missense_Mutation_p.E246Q|TNIP1_uc003ltk.2_Missense_Mutation_p.E246Q	p.E246Q	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1325	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	246			Potential.|Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.736G>C	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116236	0.77323	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.16324	2.58;2.6;2.6;2.6;2.6;2.6;2.6;2.62;2.63;2.35	4.98	4.98	0.66077	.	0.055342	0.64402	D	0.000001	T	0.36468	0.0968	M	0.62723	1.935	0.43467	D	0.995678	P;D;D;D;D;D;D	0.67145	0.897;0.996;0.988;0.996;0.996;0.987;0.987	P;P;P;P;D;P;P	0.63957	0.649;0.874;0.836;0.874;0.92;0.819;0.819	T	0.03483	-1.1032	10	0.35671	T	0.21	-28.3903	16.0295	0.80567	0.0:1.0:0.0:0.0	.	246;200;200;246;246;246;246	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	Q	193;246;246;246;203;203;208;246;246;246;246;246;203;193	ENSP00000429891:E193Q;ENSP00000374029:E246Q;ENSP00000317891:E246Q;ENSP00000428243:E246Q;ENSP00000428187:E246Q;ENSP00000430760:E246Q;ENSP00000430971:E246Q;ENSP00000429912:E246Q;ENSP00000431105:E246Q;ENSP00000428487:E193Q	ENSP00000317891:E246Q	E	-	1	0	TNIP1	150409688	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.628000	0.54259	2.310000	0.77875	0.549000	0.68633	GAG		0.512	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		5	310	0	0	0	0.001168	0	5	310				
FAM71B	153745	broad.mit.edu	37	5	156590064	156590064	+	Missense_Mutation	SNP	G	G	C	rs150872087	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:156590064G>C	ENST00000302938.4	-	2	1307	c.1212C>G	c.(1210-1212)agC>agG	p.S404R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	404						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAGCCTTCGCTTTGCAAGG	0.507																																							uc003lwn.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1210-1212)AGC>AGG		family with sequence similarity 71, member B							77.0	80.0	79.0					5																	156590064		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590064G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1212C>G	5.37:g.156590064G>C	ENSP00000305596:p.Ser404Arg						p.S404R	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1312	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	404					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1212C>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973185	0.18736	.	.	ENSG00000170613	ENST00000302938	T	0.18657	2.2	4.16	-4.82	0.03171	.	0.000000	0.47455	D	0.000238	T	0.27559	0.0677	M	0.78049	2.395	0.30671	N	0.753358	D	0.57899	0.981	P	0.48815	0.591	T	0.32402	-0.9908	10	0.56958	D	0.05	-7.3399	11.9891	0.53166	0.3414:0.0:0.6586:0.0	.	404	Q8TC56	FA71B_HUMAN	R	404	ENSP00000305596:S404R	ENSP00000305596:S404R	S	-	3	2	FAM71B	156522642	0.281000	0.24258	0.693000	0.30195	0.014000	0.08584	-1.228000	0.02948	-1.048000	0.03238	-0.367000	0.07326	AGC		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		7	42	0	0	0	0.001984	0	7	42				
EBF1	1879	broad.mit.edu	37	5	158523361	158523361	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:158523361G>C	ENST00000313708.6	-	3	627	c.345C>G	c.(343-345)ctC>ctG	p.L115L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.L115L|EBF1_ENST00000517373.1_Silent_p.L115L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	115					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTGCTGTAGAGAAGCTGAA	0.592			T	HMGA2	lipoma																																		uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(343-345)CTC>CTG		early B-cell factor							101.0	92.0	95.0					5																	158523361		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158523361G>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.345C>G	5.37:g.158523361G>C						EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Silent_p.L115L|EBF1_uc003lxl.3_Silent_p.L115L	p.L115L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	647	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	115					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.345C>G	CCDS4343.1																																																																																				0.592	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		3	22	0	0	0	0.001168	0	3	22				
DOCK2	1794	broad.mit.edu	37	5	169468121	169468121	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:169468121C>A	ENST00000256935.8	+	37	3808	c.3728C>A	c.(3727-3729)aCg>aAg	p.T1243K	DOCK2_ENST00000540750.1_Missense_Mutation_p.T304K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T735K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCCTACACGCTCCTTCTC	0.502																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3727-3729)ACG>AAG		dedicator of cytokinesis 2							133.0	109.0	117.0					5																	169468121		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169468121C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3728C>A	5.37:g.169468121C>A	ENSP00000256935:p.Thr1243Lys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T735K	p.T1243K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		37	3808	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1243			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3728C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614791	0.87359	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.26518	1.73;1.73;1.73	5.32	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.93375	3.41	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.984;0.988	T	0.72789	-0.4187	10	0.87932	D	0	.	14.1735	0.65525	0.0:0.9276:0.0:0.0724	.	735;1243	E7ERW7;Q92608	.;DOCK2_HUMAN	K	1243;735;304	ENSP00000256935:T1243K;ENSP00000429283:T735K;ENSP00000438827:T304K	ENSP00000256935:T1243K	T	+	2	0	DOCK2	169400699	1.000000	0.71417	0.886000	0.34754	0.754000	0.42855	7.749000	0.85096	1.385000	0.46445	0.650000	0.86243	ACG		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	42	1	0	0.000151284	0.001855	0.000166801	12	42				
ADAMTS2	9509	broad.mit.edu	37	5	178699960	178699960	+	Silent	SNP	G	G	T	rs144732073		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:178699960G>T	ENST00000251582.7	-	3	741	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	ADAMTS2_ENST00000274609.5_Silent_p.R214R	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	214					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGGTGGCCGGCGATACACC	0.662																																							uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(640-642)CGG>AGG		ADAM metallopeptidase with thrombospondin type 1							64.0	63.0	63.0					5																	178699960		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178699960G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.640C>A	5.37:g.178699960G>T						ADAMTS2_uc011dgm.1_Silent_p.R214R	p.R214R	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	3	640	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	214						Silent	SNP	ENST00000251582.7	37	c.640C>A	CCDS4444.1																																																																																				0.662	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		21	52	1	0	4.54149e-19	0.014323	7.46308e-19	21	52				
C6orf195	154386	broad.mit.edu	37	6	2623839	2623839	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:2623839G>T	ENST00000296847.3	-	3	741	c.218C>A	c.(217-219)cCt>cAt	p.P73H		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	73										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGATGGGGCAGGAACTGAGGG	0.622																																							uc003mtw.2		NA																	0					0						c.(217-219)CCT>CAT		hypothetical protein LOC154386							59.0	68.0	65.0					6																	2623839		2030	4172	6202	SO:0001583	missense	154386							g.chr6:2623839G>T	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.218C>A	6.37:g.2623839G>T	ENSP00000296847:p.Pro73His						p.P73H	NM_152554	NP_689767	Q96MT4	CF195_HUMAN			3	1203	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	73					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	ENST00000296847.3	37	c.218C>A	CCDS43416.1	.	.	.	.	.	.	.	.	.	.	G	6.274	0.418734	0.11870	.	.	ENSG00000164385	ENST00000296847	T	0.41758	0.99	3.55	1.69	0.24217	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	D	0.56521	0.976	P	0.50162	0.633	T	0.04041	-1.0982	9	0.87932	D	0	.	4.4212	0.11481	0.1317:0.2345:0.6337:0.0	.	73	Q96MT4	CF195_HUMAN	H	73	ENSP00000296847:P73H	ENSP00000296847:P73H	P	-	2	0	C6orf195	2568838	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	0.279000	0.18771	0.473000	0.27368	0.655000	0.94253	CCT		0.622	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		14	75	1	0	1.52009e-12	0.003163	2.21573e-12	14	75				
RBM24	221662	broad.mit.edu	37	6	17292285	17292285	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:17292285G>T	ENST00000379052.5	+	4	882	c.646G>T	c.(646-648)Gct>Tct	p.A216S	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A158S|RBM24_ENST00000318204.5_Missense_Mutation_p.A171S	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	216	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			cgctgcagcagctgctgccgc	0.582																																							uc003nbz.3		NA																	0				ovary(1)|skin(1)	2						c.(646-648)GCT>TCT		RNA binding motif protein 24 isoform 1							32.0	31.0	31.0					6																	17292285		1648	3449	5097	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292285G>T	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.646G>T	6.37:g.17292285G>T	ENSP00000368341:p.Ala216Ser					RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A158S|RBM24_uc003nca.2_Missense_Mutation_p.A171S|RBM24_uc011diy.1_Missense_Mutation_p.Q129H|RBM24_uc011diz.1_Missense_Mutation_p.Q114H	p.A216S	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	650	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	216			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.646G>T	CCDS47378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.704|4.704	0.130923|0.130923	0.08981|0.08981	.|.	.|.	ENSG00000112183|ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204|ENST00000503965	T;T;T|.	0.29142|.	1.58;1.58;1.58|.	5.02|5.02	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40956|0.40956	0.1138|0.1138	L|L	0.50333|0.50333	1.59|1.59	0.47123|0.47123	D|D	0.999327|0.999327	D;D|P;P	0.58970|0.49447	0.972;0.984|0.924;0.924	D;D|P;P	0.70935|0.51135	0.971;0.935|0.66;0.568	T|T	0.33369|0.33369	-0.9871|-0.9871	10|7	0.23891|.	T|.	0.37|.	-7.1283|-7.1283	8.9831|8.9831	0.35977|0.35977	0.0998:0.0:0.9002:0.0|0.0998:0.0:0.9002:0.0	.|.	171;216|114;129	Q9BX46-2;Q9BX46|B7Z6B4;B7Z6B7	.;RBM24_HUMAN|.;.	S|H	216;158;171|180	ENSP00000368341:A216S;ENSP00000396898:A158S;ENSP00000319551:A171S|.	ENSP00000319551:A171S|.	A|Q	+|+	1|3	0|2	RBM24|RBM24	17400264|17400264	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.418000|0.418000	0.31294|0.31294	7.881000|7.881000	0.87252|0.87252	1.331000|1.331000	0.45412|0.45412	0.467000|0.467000	0.42956|0.42956	GCT|CAG		0.582	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		14	32	1	0	1.52009e-12	0.003163	2.21573e-12	14	32				
SLC17A1	6568	broad.mit.edu	37	6	25826688	25826688	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:25826688C>A	ENST00000244527.4	-	3	323		c.e3+1		SLC17A1_ENST00000468082.1_Splice_Site|SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000476801.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATTGATGTACCTTTATATTA	0.388																																							uc003nfh.3		NA																	0				ovary(3)|pancreas(1)	4						c.e3+1		solute carrier family 17 (sodium phosphate),							157.0	151.0	153.0					6																	25826688		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25826688C>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.207+1G>T	6.37:g.25826688C>A						SLC17A1_uc011djy.1_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.K67_splice|SLC17A1_uc010jqc.1_Splice_Site_p.K67_splice	p.K69_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN			3	323	-								A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	37	c.207_splice	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163432	0.21538	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.82	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.41819	D	0.990015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3627	0.38206	0.0:0.7812:0.2188:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A1	25934667	0.964000	0.33143	0.270000	0.24601	0.073000	0.16967	2.819000	0.48049	0.934000	0.37316	0.655000	0.94253	.		0.388	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Intron	14	128	1	0	4.36969e-10	0.001855	5.78144e-10	14	128				
BTN3A1	11119	broad.mit.edu	37	6	26408110	26408110	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:26408110G>T	ENST00000289361.6	+	4	1013	c.645G>T	c.(643-645)ggG>ggT	p.G215G	BTN3A1_ENST00000414912.2_Silent_p.G163G|BTN3A1_ENST00000425234.2_Silent_p.G215G|BTN3A1_ENST00000476549.2_Silent_p.G215G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	215	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCAGCTCTGGGGAGGGTGTAT	0.552																																							uc003nhv.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(643-645)GGG>GGT		butyrophilin, subfamily 3, member A1 isoform a							175.0	163.0	167.0					6																	26408110		2203	4300	6503	SO:0001819	synonymous_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26408110G>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.645G>T	6.37:g.26408110G>T						BTN3A1_uc011dkj.1_Silent_p.G215G|BTN3A1_uc011dkk.1_Silent_p.G163G|BTN3A1_uc010jqj.2_Silent_p.G215G	p.G215G	NM_007048	NP_008979	O00481	BT3A1_HUMAN			4	1013	+			215			Ig-like V-type 2.|Extracellular (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.645G>T	CCDS4608.1																																																																																				0.552	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			49	152	1	0	7.34454e-26	0.01441	1.27602e-25	49	152				
TRIM27	5987	broad.mit.edu	37	6	28887798	28887798	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:28887798C>A	ENST00000377199.3	-	3	1094	c.738G>T	c.(736-738)gaG>gaT	p.E246D	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.E246D	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	246					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCTGCAGGAGCTCCCTGGTGG	0.547			T	RET	papillary thyroid																																		uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(736-738)GAG>GAT		ret finger protein							82.0	78.0	79.0					6																	28887798		2203	4300	6503	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28887798C>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.738G>T	6.37:g.28887798C>A	ENSP00000366404:p.Glu246Asp					TRIM27_uc003nls.2_Missense_Mutation_p.E246D|TRIM27_uc003nlt.1_Missense_Mutation_p.E246D	p.E246D	NM_006510	NP_006501	P14373	TRI27_HUMAN			3	1097	-			246					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.738G>T	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552509	0.45487	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.64438	0.39;-0.1	4.49	2.51	0.30379	.	0.000000	0.50627	D	0.000114	T	0.46852	0.1414	L	0.29908	0.895	0.28568	N	0.910779	P;D;P	0.71674	0.825;0.998;0.787	B;D;B	0.68353	0.396;0.957;0.219	T	0.32161	-0.9917	10	0.41790	T	0.15	.	4.6641	0.12657	0.2161:0.6715:0.0:0.1124	.	313;246;246	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	D	246	ENSP00000366404:E246D;ENSP00000366399:E246D	ENSP00000366399:E246D	E	-	3	2	TRIM27	28995777	0.000000	0.05858	1.000000	0.80357	0.963000	0.63663	-0.615000	0.05597	1.176000	0.42840	0.655000	0.94253	GAG		0.547	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		21	70	1	0	1.28384e-07	0.012319	1.55873e-07	21	70				
DDR1	780	broad.mit.edu	37	6	30866676	30866676	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:30866676G>T	ENST00000324771.8	+	19	3011	c.2463G>T	c.(2461-2463)acG>acT	p.T821T	DDR1_ENST00000376567.2_Silent_p.T784T|DDR1_ENST00000376570.4_Silent_p.T784T|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.T784T|DDR1_ENST00000376568.3_Silent_p.T821T|DDR1_ENST00000508312.1_Silent_p.T802T|DDR1_ENST00000454612.2_Silent_p.T784T|DDR1_ENST00000513240.1_Silent_p.T827T|DDR1_ENST00000452441.1_Silent_p.T821T|DDR1_ENST00000376575.3_Silent_p.T827T|DDR1_ENST00000418800.2_Silent_p.T784T			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGAAGTTCACGACTGCGAGTG	0.592																																							uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(2461-2463)ACG>ACT		discoidin domain receptor family, member 1	Imatinib(DB00619)						161.0	127.0	139.0					6																	30866676		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30866676G>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2463G>T	6.37:g.30866676G>T						DDR1_uc010jse.2_Silent_p.T784T|DDR1_uc003nrq.2_Silent_p.T784T|DDR1_uc003nrs.2_Silent_p.T821T|DDR1_uc003nrt.2_Silent_p.T784T|DDR1_uc011dms.1_Silent_p.T802T|DDR1_uc003nru.2_Silent_p.T784T|DDR1_uc003nrv.2_Silent_p.T827T|DDR1_uc003nrz.1_Silent_p.T146T	p.T821T	NM_013993	NP_054699	Q08345	DDR1_HUMAN			18	2722	+			821			Cytoplasmic (Potential).|Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.2463G>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	0.659	-0.806500	0.02819	.	.	ENSG00000204580	ENST00000484556	.	.	.	4.89	-9.77	0.00500	.	.	.	.	.	T	0.22044	0.0531	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	4	.	.	.	.	4.9489	0.14004	0.4448:0.3131:0.1686:0.0735	.	.	.	.	L	178	.	.	R	+	2	0	DDR1	30974655	0.000000	0.05858	0.005000	0.12908	0.482000	0.33219	-4.249000	0.00266	-3.402000	0.00170	-1.468000	0.01013	CGA		0.592	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		79	121	1	0	9.54843e-35	0.01441	1.69896e-34	79	121				
TNXA	7146	broad.mit.edu	37	6	31977552	31977552	+	5'Flank	SNP	C	C	G	rs77471377	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:31977552C>G	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGGGCCGCTCCCGGTTGCCGT	0.667													c|||	772	0.154153	0.2769	0.0965	5008	,	,		12453	0.0764		0.0895	False		,,,				2504	0.1759						uc011dpc.1		NA																	0					0						c.(1441-1443)CGG>CGC		tenascin XB isoform 2																																				SO:0001631	upstream_gene_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:31977552C>G																													6.37:g.31977552C>G	Exception_encountered						p.R481R	NM_032470	NP_115859	P22105	TENX_HUMAN			12	2352	-			4097			Fibrinogen C-terminal.			Silent	SNP	ENST00000594256.1	37	c.1443G>C																																																																																					0.667	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	30	0	0	0	0.009096	0	3	30				
TTBK1	84630	broad.mit.edu	37	6	43222290	43222290	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:43222290C>G	ENST00000259750.4	+	6	560	c.477C>G	c.(475-477)aaC>aaG	p.N159K	TTBK1_ENST00000304139.5_Missense_Mutation_p.N108K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTCAAACTTTGCCATGG	0.642																																							uc003ouq.1		NA																	0				lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(475-477)AAC>AAG		tau tubulin kinase 1							49.0	49.0	49.0					6																	43222290		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222290C>G	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.477C>G	6.37:g.43222290C>G	ENSP00000259750:p.Asn159Lys						p.N159K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		6	756	+			159			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.477C>G	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943567	0.73672	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	D	0.91996	-2.95	5.2	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148716	0.64402	D	0.000015	D	0.97219	0.9091	H	0.97758	4.07	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.97818	1.0255	10	0.87932	D	0	.	13.5687	0.61834	0.0:0.9079:0.0:0.0921	.	159	Q5TCY1	TTBK1_HUMAN	K	108;159;108	ENSP00000259750:N159K	ENSP00000259750:N159K	N	+	3	2	TTBK1	43330268	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.445000	0.35079	2.431000	0.82371	0.655000	0.94253	AAC		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			28	88	0	0	0	0.008361	0	28	88				
AARS2	57505	broad.mit.edu	37	6	44280862	44280862	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:44280862G>A	ENST00000244571.4	-	1	201	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGTCGCCGCGGGGCCGCACG	0.632											OREG0017474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010jza.1		NA																	0				ovary(1)	1						c.(199-201)CGC>TGC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						11.0	15.0	14.0					6																	44280862		2202	4298	6500	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44280862G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.199C>T	6.37:g.44280862G>A	ENSP00000244571:p.Arg67Cys		OREG0017474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SPATS1_uc003oxg.2_Intron	p.R67C	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	202	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		67						Missense_Mutation	SNP	ENST00000244571.4	37	c.199C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628803	0.87560	.	.	ENSG00000124608	ENST00000244571	T	0.73258	-0.73	4.91	4.02	0.46733	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.81179	2.53	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.80400	-0.1398	10	0.38643	T	0.18	-16.5106	14.499	0.67709	0.0:0.0:0.8519:0.1481	.	67	Q5JTZ9	SYAM_HUMAN	C	67	ENSP00000244571:R67C	ENSP00000244571:R67C	R	-	1	0	AARS2	44388840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.495000	0.45337	1.397000	0.46682	0.655000	0.94253	CGC		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		9	14	0	0	0	0.004482	0	9	14				
TDRD6	221400	broad.mit.edu	37	6	46657549	46657549	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:46657549G>T	ENST00000316081.6	+	1	1684	c.1684G>T	c.(1684-1686)Gac>Tac	p.D562Y	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.D562Y|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	562	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAAATTGGATGACAAGAGTGT	0.428																																							uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1684-1686)GAC>TAC		tudor domain containing 6							166.0	166.0	166.0					6																	46657549		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657549G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1684G>T	6.37:g.46657549G>T	ENSP00000346065:p.Asp562Tyr					TDRD6_uc010jze.2_Missense_Mutation_p.D556Y	p.D562Y	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1684	+			562			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1684G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459133	0.26248	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12465	2.68;2.68	6.02	5.14	0.70334	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.936320	0.09200	N	0.834745	T	0.28234	0.0697	M	0.81497	2.545	0.09310	N	1	D;D	0.67145	0.995;0.996	D;D	0.68192	0.927;0.956	T	0.16335	-1.0406	10	0.87932	D	0	-4.3266	14.067	0.64837	0.0736:0.0:0.9264:0.0	.	562;562	F5H5M3;O60522	.;TDRD6_HUMAN	Y	562	ENSP00000443299:D562Y;ENSP00000346065:D562Y	ENSP00000346065:D562Y	D	+	1	0	TDRD6	46765508	0.999000	0.42202	0.269000	0.24586	0.288000	0.27193	4.362000	0.59467	1.533000	0.49186	0.655000	0.94253	GAC		0.428	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		32	121	1	0	1.07637e-12	0.004878	1.58235e-12	32	121				
FAM83B	222584	broad.mit.edu	37	6	54805297	54805297	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:54805297G>C	ENST00000306858.7	+	5	1644	c.1528G>C	c.(1528-1530)Gac>Cac	p.D510H	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	510										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCTACACCGGACTCAAATGG	0.423																																							uc003pck.2		NA																	0				ovary(6)	6						c.(1528-1530)GAC>CAC		hypothetical protein LOC222584							96.0	96.0	96.0					6																	54805297		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805297G>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1528G>C	6.37:g.54805297G>C	ENSP00000304078:p.Asp510His						p.D510H	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1644	+	Lung NSC(77;0.0178)|Renal(3;0.122)		510					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1528G>C	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880654	0.72294	.	.	ENSG00000168143	ENST00000306858	T	0.34667	1.35	5.56	5.56	0.83823	.	0.194692	0.45361	D	0.000363	T	0.34629	0.0904	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56700	0.804	T	0.22836	-1.0205	10	0.87932	D	0	-17.9571	19.8898	0.96926	0.0:0.0:1.0:0.0	.	510	Q5T0W9	FA83B_HUMAN	H	510	ENSP00000304078:D510H	ENSP00000304078:D510H	D	+	1	0	FAM83B	54913256	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	7.257000	0.78362	2.775000	0.95449	0.655000	0.94253	GAC		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		16	66	0	0	0	0.004007	0	16	66				
BEND6	221336	broad.mit.edu	37	6	56819243	56819243	+	5'Flank	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:56819243G>T	ENST00000370746.3	+	0	0				DST_ENST00000370754.5_Missense_Mutation_p.P48Q|BEND6_ENST00000370745.1_5'Flank|BEND6_ENST00000370750.2_5'Flank|BEND6_ENST00000370748.3_5'Flank	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CGATTTCATCGGATGCCTCCC	0.557																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(142-144)CCG>CAG		dystonin isoform 2							41.0	42.0	42.0					6																	56819243		1568	3582	5150	SO:0001631	upstream_gene_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56819243G>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914		6.37:g.56819243G>T	Exception_encountered					BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	p.P48Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		1	171	-	Lung NSC(77;0.103)		Error:Variant_position_missing_in_Q03001_after_alignment					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.143C>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079787	0.76528	.	.	ENSG00000151914	ENST00000370754;ENST00000449297	D;D	0.97256	-2.04;-4.31	4.31	4.31	0.51392	.	.	.	.	.	D	0.97589	0.9210	.	.	.	.	.	.	D	0.63880	0.993	P	0.57371	0.819	D	0.98229	1.0482	7	0.87932	D	0	.	16.5935	0.84789	0.0:0.0:1.0:0.0	.	48	E9PEB9	.	Q	48	ENSP00000359790:P48Q;ENSP00000393082:P48Q	ENSP00000359790:P48Q	P	-	2	0	DST	56927202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.332000	0.90024	2.215000	0.71742	0.563000	0.77884	CCG		0.557	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		13	21	1	0	6.31663e-08	0.003163	7.83505e-08	13	21				
EYS	346007	broad.mit.edu	37	6	66115233	66115234	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:66115233_66115234GG>TT	ENST00000370621.3	-	6	1415_1416	c.889_890CC>AA	c.(889-891)CCt>AAt	p.P297N	EYS_ENST00000393380.2_Missense_Mutation_p.P297N|EYS_ENST00000370616.2_Missense_Mutation_p.P297N|EYS_ENST00000342421.5_Missense_Mutation_p.P297N|EYS_ENST00000370618.3_Missense_Mutation_p.P297N|EYS_ENST00000503581.1_Missense_Mutation_p.P297N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	297					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AGAAACACAAGGTTTTGCTGAC	0.366																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(889-891)CCT>AAT		eyes shut homolog isoform 1																																				SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115233_66115234GG>TT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.889_890delinsTT	6.37:g.66115233_66115234delinsTT	ENSP00000359655:p.Pro297Asn					EYS_uc003peq.2_Missense_Mutation_p.P297N|EYS_uc003per.1_Missense_Mutation_p.P297N	p.P297N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			6	1427_1428	-			297					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	DNP	ENST00000370621.3	37	c.889_890CC>AA																																																																																					0.366	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		30	46	0	0	0	0.004672	0	30	46				
MDN1	23195	broad.mit.edu	37	6	90365644	90365644	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:90365644A>T	ENST00000369393.3	-	92	15444	c.15329T>A	c.(15328-15330)aTg>aAg	p.M5110K	MDN1_ENST00000428876.1_Missense_Mutation_p.M5110K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5110					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGATCACCCATGGAACGTTC	0.532																																							uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(15328-15330)ATG>AAG		MDN1, midasin homolog							107.0	81.0	90.0					6																	90365644		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365644A>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15329T>A	6.37:g.90365644A>T	ENSP00000358400:p.Met5110Lys						p.M5110K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	92	15445	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5110					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15329T>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253313	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.41	4.23	0.50019	.	0.300736	0.35677	N	0.003045	T	0.01523	0.0049	L	0.53249	1.67	0.29443	N	0.859015	B	0.23735	0.09	B	0.20384	0.029	T	0.43097	-0.9412	10	0.37606	T	0.19	.	8.003	0.30308	0.7913:0.1379:0.0708:0.0	.	5110	Q9NU22	MDN1_HUMAN	K	5110	ENSP00000358400:M5110K;ENSP00000413970:M5110K	ENSP00000358400:M5110K	M	-	2	0	MDN1	90422365	0.989000	0.36119	0.874000	0.34290	0.554000	0.35429	2.889000	0.48601	0.972000	0.38314	0.533000	0.62120	ATG		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			16	19	0	0	0	0.008871	0	16	19				
GJA10	84694	broad.mit.edu	37	6	90604546	90604546	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:90604546A>G	ENST00000369352.1	+	1	359	c.359A>G	c.(358-360)aAt>aGt	p.N120S		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	120					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAGATGGAGAATCCAGATCTT	0.473																																							uc011eaa.1		NA																	0					0						c.(358-360)AAT>AGT		gap junction protein, alpha 10							73.0	71.0	72.0					6																	90604546		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604546A>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.359A>G	6.37:g.90604546A>G	ENSP00000358358:p.Asn120Ser						p.N120S	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	359	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	120			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.359A>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	9.824	1.186524	0.21870	.	.	ENSG00000135355	ENST00000369352	D	0.97505	-4.41	4.91	3.75	0.43078	.	3.177930	0.00794	N	0.001373	D	0.87830	0.6276	N	0.22421	0.69	0.29490	N	0.855694	B	0.13145	0.007	B	0.17098	0.017	T	0.79122	-0.1933	10	0.12103	T	0.63	.	9.4349	0.38632	0.8508:0.0:0.1492:0.0	.	120	Q969M2	CXA10_HUMAN	S	120	ENSP00000358358:N120S	ENSP00000358358:N120S	N	+	2	0	GJA10	90661267	0.989000	0.36119	0.998000	0.56505	0.991000	0.79684	2.796000	0.47869	0.912000	0.36772	0.460000	0.39030	AAT		0.473	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		7	16	0	0	0	0.001984	0	7	16				
MARCKS	4082	broad.mit.edu	37	6	114181669	114181669	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:114181669G>A	ENST00000368635.4	+	2	1294	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	305				PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555). {ECO:0000305}.	energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGCGGCCGCCGCAGCCTCGTC	0.781																																							uc003pvy.3		NA																	0					0						c.(913-915)GCA>ACA		myristoylated alanine-rich protein kinase C							16.0	22.0	20.0					6																	114181669		1558	3111	4669	SO:0001583	missense	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181669G>A	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.913G>A	6.37:g.114181669G>A	ENSP00000357624:p.Ala305Thr						p.A305T	NM_002356	NP_002347	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	1308	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	305	PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555).				E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	ENST00000368635.4	37	c.913G>A	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207816	0.39003	.	.	ENSG00000155130	ENST00000368635	T	0.30448	1.53	4.07	-4.7	0.03288	.	.	.	.	.	T	0.06416	0.0165	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.36962	-0.9726	9	0.42905	T	0.14	.	3.3324	0.07089	0.1124:0.2:0.501:0.1866	.	305	P29966	MARCS_HUMAN	T	305	ENSP00000357624:A305T	ENSP00000357624:A305T	A	+	1	0	MARCKS	114288362	0.016000	0.18221	0.000000	0.03702	0.067000	0.16453	0.240000	0.18042	-0.800000	0.04433	0.455000	0.32223	GCA		0.781	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		3	21	0	0	0	0.004672	0	3	21				
TBC1D32	221322	broad.mit.edu	37	6	121615715	121615715	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:121615715C>A	ENST00000398212.2	-	11	1281		c.e11+1		TBC1D32_ENST00000275159.6_Splice_Site	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATAATACTTACTGCAATGCTT	0.294																																							uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.e11+1		hypothetical protein LOC221322							118.0	111.0	113.0					6																	121615715		1808	4068	5876	SO:0001630	splice_region_variant	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121615715C>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1231+1G>T	6.37:g.121615715C>A						C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc003pyp.1_5'Flank	p.R411_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	11	1299	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	ENST00000398212.2	37	c.1231_splice	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681403	0.47991	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1213	0.81359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf170	121657414	1.000000	0.71417	0.988000	0.46212	0.494000	0.33585	4.121000	0.57904	2.600000	0.87896	0.650000	0.86243	.		0.294	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	Intron	25	30	1	0	3.65163e-15	0.00632	5.60786e-15	25	30				
TIAM2	26230	broad.mit.edu	37	6	155450943	155450943	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:155450943C>A	ENST00000461783.3	+	6	1859	c.586C>A	c.(586-588)Cag>Aag	p.Q196K	TIAM2_ENST00000529824.2_Missense_Mutation_p.Q196K|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q196K|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q196K|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q196K|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	196					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGCCGGTGCAGCTGCTGAG	0.607																																							uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(586-588)CAG>AAG		T-cell lymphoma invasion and metastasis 2							38.0	36.0	36.0					6																	155450943		2203	4299	6502	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450943C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.586C>A	6.37:g.155450943C>A	ENSP00000437188:p.Gln196Lys					TIAM2_uc003qqe.2_Missense_Mutation_p.Q196K	p.Q196K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1859	+		Ovarian(120;0.196)	196					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.586C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500989	0.44455	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05855	3.47;3.38;3.43;3.47;3.47;3.43	4.93	4.93	0.64822	.	0.192507	0.46145	D	0.000320	T	0.04952	0.0133	M	0.62723	1.935	0.80722	D	1	B	0.28055	0.199	B	0.20577	0.03	T	0.08351	-1.0726	10	0.66056	D	0.02	.	16.678	0.85284	0.0:1.0:0.0:0.0	.	196	Q8IVF5	TIAM2_HUMAN	K	196;442;196;196;196;196;196	ENSP00000437188:Q196K;ENSP00000434901:Q196K;ENSP00000407746:Q196K;ENSP00000327315:Q196K;ENSP00000353528:Q196K;ENSP00000433348:Q196K	ENSP00000327315:Q196K	Q	+	1	0	TIAM2	155492635	1.000000	0.71417	0.850000	0.33497	0.096000	0.18686	5.053000	0.64269	2.426000	0.82243	0.491000	0.48974	CAG		0.607	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		11	24	1	0	2.61681e-11	0.00245	3.6494e-11	11	24				
AHR	196	broad.mit.edu	37	7	17349710	17349710	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:17349710C>T	ENST00000242057.4	+	2	859	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	72	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTCTTAGGCTCAGCGTCAGTT	0.393																																							uc011jxz.1		NA																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(214-216)CTC>CTT		aryl hydrocarbon receptor precursor							79.0	73.0	75.0					7																	17349710		2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17349710C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.216C>T	7.37:g.17349710C>T						AHR_uc003stt.3_RNA	p.L72L	NM_001621	NP_001612	P35869	AHR_HUMAN			2	829	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		72			Helix-loop-helix motif.		A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.216C>T	CCDS5366.1																																																																																				0.393	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		7	21	0	0	0	0.006214	0	7	21				
DNAH11	8701	broad.mit.edu	37	7	21788231	21788231	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:21788231G>C	ENST00000409508.3	+	52	8575	c.8544G>C	c.(8542-8544)caG>caC	p.Q2848H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q2855H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2855	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAACCCCTCAGGGCTGTGCTC	0.542									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8563-8565)CAG>CAC		dynein, axonemal, heavy chain 11							58.0	59.0	59.0					7																	21788231		1954	4148	6102	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21788231G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8544G>C	7.37:g.21788231G>C	ENSP00000475939:p.Gln2848His						p.Q2855H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			53	8596	+			2855			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8565G>C		.	.	.	.	.	.	.	.	.	.	G	11.27	1.589377	0.28357	.	.	ENSG00000105877	ENST00000328843	T	0.42900	0.96	6.06	1.01	0.19927	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.665350	0.16630	N	0.206082	T	0.42177	0.1191	.	.	.	0.22171	N	0.999311	P	0.47034	0.889	P	0.52823	0.71	T	0.34428	-0.9829	9	0.72032	D	0.01	.	0.9815	0.01437	0.2647:0.1141:0.3909:0.2302	.	2855	Q96DT5	DYH11_HUMAN	H	2855	ENSP00000330671:Q2855H	ENSP00000330671:Q2855H	Q	+	3	2	DNAH11	21754756	0.095000	0.21747	0.062000	0.19696	0.030000	0.12068	0.127000	0.15790	0.147000	0.19030	0.650000	0.86243	CAG		0.542	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	19	0	0	0	0.009096	0	4	19				
GPNMB	10457	broad.mit.edu	37	7	23300116	23300116	+	Silent	SNP	C	C	A	rs181468473		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:23300116C>A	ENST00000381990.2	+	6	903	c.742C>A	c.(742-744)Cga>Aga	p.R248R	GPNMB_ENST00000258733.4_Silent_p.R248R|GPNMB_ENST00000539136.1_Silent_p.R149R|GPNMB_ENST00000453162.2_Silent_p.R190R	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	248	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAAGAACGATCGAAATTCATC	0.383																																							uc003swc.2		NA																	0				ovary(3)|breast(2)	5						c.(742-744)CGA>AGA		glycoprotein (transmembrane) nmb isoform a							146.0	127.0	133.0					7																	23300116		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23300116C>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.742C>A	7.37:g.23300116C>A						GPNMB_uc003swb.2_Silent_p.R248R|GPNMB_uc011jyy.1_Silent_p.R190R|GPNMB_uc011jyz.1_Silent_p.R149R	p.R248R	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		6	903	+			248			PKD.|Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.742C>A	CCDS34610.1																																																																																				0.383	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		19	50	1	0	1.10513e-12	0.014323	1.62002e-12	19	50				
GLI3	2737	broad.mit.edu	37	7	42005519	42005519	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:42005519C>A	ENST00000395925.3	-	15	3236	c.3152G>T	c.(3151-3153)cGg>cTg	p.R1051L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCTCGGGCCGCGTGTAATT	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3151-3153)CGG>CTG		GLI-Kruppel family member GLI3							43.0	48.0	46.0					7																	42005519		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005519C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3152G>T	7.37:g.42005519C>A	ENSP00000379258:p.Arg1051Leu					GLI3_uc011kbg.1_Missense_Mutation_p.R992L	p.R1051L	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3243	-			1051					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3152G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897379	0.33535	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.47	5.47	0.80525	.	0.100400	0.64402	D	0.000001	T	0.19366	0.0465	M	0.78049	2.395	0.80722	D	1	B	0.34329	0.449	B	0.30401	0.115	T	0.03503	-1.1030	10	0.09338	T	0.73	.	12.9123	0.58187	0.0:0.9226:0.0:0.0774	.	1051	P10071	GLI3_HUMAN	L	1051	ENSP00000379258:R1051L	ENSP00000379258:R1051L	R	-	2	0	GLI3	41972044	1.000000	0.71417	0.967000	0.41034	0.743000	0.42351	4.554000	0.60760	2.561000	0.86390	0.563000	0.77884	CGG		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		19	43	1	0	6.21321e-17	0.00278	9.92575e-17	19	43				
TNS3	64759	broad.mit.edu	37	7	47384421	47384421	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:47384421C>A	ENST00000398879.1	-	20	2948	c.2582G>T	c.(2581-2583)cGc>cTc	p.R861L	TNS3_ENST00000311160.9_Missense_Mutation_p.R861L|TNS3_ENST00000355730.3_Missense_Mutation_p.R621L			Q68CZ2	TENS3_HUMAN	tensin 3	861					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAGGATGGCGCAGCGCTGT	0.582																																							uc003tnv.2		NA																	0				ovary(4)	4						c.(2581-2583)CGC>CTC		tensin 3							63.0	70.0	68.0					7																	47384421		2029	4181	6210	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384421C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2582G>T	7.37:g.47384421C>A	ENSP00000381854:p.Arg861Leu					TNS3_uc003tnw.2_Missense_Mutation_p.R861L	p.R861L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			20	2949	-			861					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2582G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889881	0.33348	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93763	-2.85;-2.85;-3.28;-2.96	5.55	-4.27	0.03744	.	3.025520	0.00669	N	0.000625	D	0.86497	0.5947	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76410	-0.2969	10	0.11485	T	0.65	-1.7997	12.2745	0.54726	0.0:0.2411:0.0:0.7589	.	861	Q68CZ2	TENS3_HUMAN	L	861;971;861;621;317;964	ENSP00000312143:R861L;ENSP00000381854:R861L;ENSP00000347968:R621L;ENSP00000414358:R964L	ENSP00000312143:R861L	R	-	2	0	TNS3	47350946	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.964000	0.03833	-0.759000	0.04684	0.462000	0.41574	CGC		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		20	37	1	0	3.8784e-16	0.012319	6.10139e-16	20	37				
ZNF680	340252	broad.mit.edu	37	7	63982213	63982213	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:63982213C>A	ENST00000309683.6	-	4	1070	c.919G>T	c.(919-921)Gca>Tca	p.A307S	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GTAAGGGTTGCAAACCAGTTA	0.343																																							uc003tta.2		NA																	0				ovary(1)	1						c.(919-921)GCA>TCA		zinc finger protein 680 isoform 1							40.0	42.0	41.0					7																	63982213		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982213C>A	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.919G>T	7.37:g.63982213C>A	ENSP00000309330:p.Ala307Ser					ZNF680_uc010kzr.2_Missense_Mutation_p.A234S	p.A307S	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	1092	-		Lung NSC(55;0.118)|all_lung(88;0.243)	307			C2H2-type 5.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.919G>T	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.356240	0.00217	.	.	ENSG00000173041	ENST00000309683	T	0.12465	2.68	1.36	-2.71	0.05986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00188	-1.89	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.35375	-0.9791	9	0.02654	T	1	.	2.0643	0.03599	0.4834:0.2577:0.0:0.2589	.	307	Q8NEM1	ZN680_HUMAN	S	307	ENSP00000309330:A307S	ENSP00000309330:A307S	A	-	1	0	ZNF680	63619648	0.003000	0.15002	0.001000	0.08648	0.013000	0.08279	0.929000	0.28844	-0.889000	0.03950	-0.500000	0.04577	GCA		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		3	17	1	0	0.000602214	0.000602	0.000650089	3	17				
HGF	3082	broad.mit.edu	37	7	81388018	81388018	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:81388018A>G	ENST00000222390.5	-	3	583	c.357T>C	c.(355-357)taT>taC	p.Y119Y	HGF_ENST00000354224.6_Silent_p.Y119Y|HGF_ENST00000453018.1_Silent_p.Y16Y|HGF_ENST00000444829.2_Silent_p.Y119Y|HGF_ENST00000453411.1_Silent_p.Y119Y|HGF_ENST00000457544.2_Silent_p.Y119Y|HGF_ENST00000423064.2_Silent_p.Y119Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	119	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTTGTTTTCATAGAGGTCAA	0.343																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(355-357)TAT>TAC		hepatocyte growth factor isoform 1							96.0	95.0	96.0					7																	81388018		2203	4299	6502	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388018A>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.357T>C	7.37:g.81388018A>G						HGF_uc003uhm.2_Silent_p.Y119Y|HGF_uc003uhn.1_Silent_p.Y119Y|HGF_uc003uho.1_Silent_p.Y119Y|HGF_uc003uhp.2_Silent_p.Y119Y	p.Y119Y	NM_000601	NP_000592	P14210	HGF_HUMAN			3	522	-			119			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.357T>C	CCDS5597.1																																																																																				0.343	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		15	27	0	0	0	0.003163	0	15	27				
KRIT1	889	broad.mit.edu	37	7	91842527	91842527	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:91842527G>A	ENST00000340022.2	-	17	3025	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	KRIT1_ENST00000394505.2_Silent_p.L669L|KRIT1_ENST00000412043.2_Silent_p.L669L|KRIT1_ENST00000394503.2_Silent_p.L621L|KRIT1_ENST00000394507.1_Silent_p.L669L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	669	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCATGTTGAGGAGATGAAGTC	0.353																																							uc003ulq.1		NA																	0				ovary(2)|lung(1)	3						c.(2005-2007)CTC>CTT		krev interaction trapped 1 isoform 1							136.0	127.0	130.0					7																	91842527		2203	4300	6503	SO:0001819	synonymous_variant	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91842527G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.2007C>T	7.37:g.91842527G>A						KRIT1_uc010lev.1_Silent_p.L426L|KRIT1_uc003ulr.1_Silent_p.L669L|KRIT1_uc003uls.1_Silent_p.L669L|KRIT1_uc003ult.1_Silent_p.L621L|KRIT1_uc003ulu.1_Silent_p.L669L|KRIT1_uc003ulv.1_Silent_p.L669L	p.L669L	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		15	2178	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		669			Required for RAP1A binding.|FERM.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.2007C>T	CCDS5624.1																																																																																				0.353	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			13	34	0	0	0	0.00245	0	13	34				
TECPR1	25851	broad.mit.edu	37	7	97875324	97875324	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:97875324G>C	ENST00000447648.2	-	3	434	c.135C>G	c.(133-135)tgC>tgG	p.C45W	TECPR1_ENST00000542604.1_Intron|TECPR1_ENST00000379795.3_Missense_Mutation_p.C45W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	45					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						CAATGCCCCAGCAGCACTGCG	0.602																																							uc003upg.2		NA																	0				pancreas(1)	1						c.(133-135)TGC>TGG		tectonin beta-propeller repeat containing 1							27.0	30.0	29.0					7																	97875324		2155	4262	6417	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97875324G>C		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.135C>G	7.37:g.97875324G>C	ENSP00000404923:p.Cys45Trp					TECPR1_uc003uph.1_Intron	p.C45W	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			3	340	-			45					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.135C>G	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268844	0.80469	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000423128;ENST00000415086;ENST00000420697	T;T	0.32988	1.43;1.44	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53816	-0.8385	10	0.87932	D	0	-44.7959	12.7808	0.57476	0.0793:0.0:0.9207:0.0	.	45	Q7Z6L1	TCPR1_HUMAN	W	45	ENSP00000404923:C45W;ENSP00000369121:C45W	ENSP00000369121:C45W	C	-	3	2	TECPR1	97713260	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.823000	0.62694	2.649000	0.89929	0.557000	0.71058	TGC		0.602	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		3	13	0	0	0	0.004672	0	3	13				
MUC17	140453	broad.mit.edu	37	7	100683730	100683730	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:100683730T>C	ENST00000306151.4	+	3	9097	c.9033T>C	c.(9031-9033)ccT>ccC	p.P3011P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3011	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)					CAAGAACTCCTGCTGACACCA	0.502																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9031-9033)CCT>CCC		mucin 17 precursor							257.0	271.0	266.0					7																	100683730		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683730T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9033T>C	7.37:g.100683730T>C						MUC17_uc010lho.1_RNA	p.P3011P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9086	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3011			Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9033T>C	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		155	308	0	0	0	0.01441	0	155	308				
GRM8	2918	broad.mit.edu	37	7	126173481	126173481	+	Missense_Mutation	SNP	C	C	A	rs182088200		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:126173481C>A	ENST00000339582.2	-	9	2763	c.1955G>T	c.(1954-1956)cGg>cTg	p.R652L	GRM8_ENST00000444921.2_Missense_Mutation_p.R652L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R652L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	652					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TAGGAAGACCCGTCGGAAGGA	0.448										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1954-1956)CGG>CTG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						88.0	86.0	87.0					7																	126173481		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173481C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1955G>T	7.37:g.126173481C>A	ENSP00000344173:p.Arg652Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R652L|GRM8_uc010lkz.1_RNA	p.R652L	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2266	-		Prostate(267;0.186)	652			Helical; Name=3; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1955G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650703	0.87958	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89196	-2.48;-2.48;-2.48	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	M	0.90425	3.115	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.76575	0.839;0.988	D	0.96030	0.9016	10	0.87932	D	0	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	652;652	O00222-2;O00222	.;GRM8_HUMAN	L	652	ENSP00000344173:R652L;ENSP00000409790:R652L;ENSP00000351142:R652L	ENSP00000344173:R652L	R	-	2	0	GRM8	125960717	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	CGG		0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			16	41	1	0	2.48551e-13	0.00499	3.69602e-13	16	41				
TRPV5	56302	broad.mit.edu	37	7	142612158	142612158	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:142612158C>A	ENST00000265310.1	-	11	1693	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	449					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCACCTCCCCATTGGTGTTG	0.562																																							uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1345-1347)GGG>TGG		transient receptor potential cation channel,							70.0	63.0	65.0					7																	142612158		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612158C>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1345G>T	7.37:g.142612158C>A	ENSP00000265310:p.Gly449Trp						p.G449W	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			11	1609	-	Melanoma(164;0.059)		449			Helical; (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1345G>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512546	0.85389	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.86956	-2.19;-2.19	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93523	0.7933	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92061	0.5656	10	0.31617	T	0.26	-12.8397	18.4701	0.90771	0.0:1.0:0.0:0.0	.	449	Q9NQA5	TRPV5_HUMAN	W	449;394	ENSP00000265310:G449W;ENSP00000406361:G394W	ENSP00000265310:G449W	G	-	1	0	TRPV5	142322280	0.989000	0.36119	0.957000	0.39632	0.975000	0.68041	4.012000	0.57131	2.595000	0.87683	0.655000	0.94253	GGG		0.562	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		13	40	1	0	4.14922e-12	0.004007	5.98044e-12	13	40				
OR2F2	135948	broad.mit.edu	37	7	143632559	143632559	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:143632559C>A	ENST00000408955.2	+	1	301	c.234C>A	c.(232-234)gtC>gtA	p.V78V		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CAAGCGTAGTCCCCCAGCTGC	0.512																																							uc011ktv.1		NA																	0				ovary(3)|skin(1)	4						c.(232-234)GTC>GTA		olfactory receptor, family 2, subfamily F,							227.0	220.0	223.0					7																	143632559		2203	4300	6503	SO:0001819	synonymous_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632559C>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.234C>A	7.37:g.143632559C>A							p.V78V	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	234	+	Melanoma(164;0.0903)		78			Helical; Name=2; (Potential).		A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	c.234C>A	CCDS43666.1																																																																																				0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			65	174	1	0	3.86735e-44	0.01441	6.97745e-44	65	174				
KMT2C	58508	broad.mit.edu	37	7	151962165	151962165	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:151962165G>T	ENST00000262189.6	-	8	1360	c.1142C>A	c.(1141-1143)gCa>gAa	p.A381E	KMT2C_ENST00000355193.2_Missense_Mutation_p.A381E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	381					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGCCAACCTGCACGTTTTAA	0.438																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1141-1143)GCA>GAA		myeloid/lymphoid or mixed-lineage leukemia 3							396.0	356.0	370.0					7																	151962165		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962165G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1142C>A	7.37:g.151962165G>T	ENSP00000262189:p.Ala381Glu						p.A381E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1361	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	381			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1142C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730759	0.48939	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98747	-5.11;-5.11	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41294	U	0.000902	D	0.98298	0.9436	L	0.31065	0.9	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99799	1.1035	10	0.49607	T	0.09	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	381	Q8NEZ4	MLL3_HUMAN	E	381	ENSP00000262189:A381E;ENSP00000347325:A381E	ENSP00000262189:A381E	A	-	2	0	MLL3	151593098	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	9.813000	0.99286	2.271000	0.75665	0.557000	0.71058	GCA		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			16	415	1	0	7.41877e-09	0.012319	9.45207e-09	16	415				
CSMD1	64478	broad.mit.edu	37	8	2832025	2832025	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:2832025C>G	ENST00000520002.1	-	57	9246	c.8691G>C	c.(8689-8691)acG>acC	p.T2897T	CSMD1_ENST00000400186.3_Silent_p.T2839T|CSMD1_ENST00000542608.1_Silent_p.T2838T|CSMD1_ENST00000537824.1_Silent_p.T2896T|CSMD1_ENST00000602723.1_Silent_p.T2839T|CSMD1_ENST00000602557.1_Silent_p.T2897T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2897	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCACACTCTCGTGTCGTTGC	0.572																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8689-8691)ACG>ACC		CUB and Sushi multiple domains 1 precursor							51.0	53.0	52.0					8																	2832025		2019	4179	6198	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832025C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8691G>C	8.37:g.2832025C>G						CSMD1_uc011kwj.1_Silent_p.T2226T|CSMD1_uc010lrg.2_Silent_p.T907T	p.T2897T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	56	9081	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2897			Sushi 21.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8691G>C		.	.	.	.	.	.	.	.	.	.	C	4.817	0.151929	0.09185	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.66	-10.1	0.00402	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.27872	N	0.940002	.	.	.	.	.	.	T	0.13176	-1.0519	4	.	.	.	.	2.0356	0.03539	0.2585:0.3743:0.1648:0.2024	.	.	.	.	Q	2314	.	.	E	-	1	0	CSMD1	2819432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.606000	0.00416	-1.766000	0.01302	-0.825000	0.03093	GAG		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	9	0	0	0	0.006214	0	9	9				
MCM4	4173	broad.mit.edu	37	8	48882525	48882525	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:48882525T>G	ENST00000262105.2	+	10	1551	c.1342T>G	c.(1342-1344)Ttg>Gtg	p.L448V	MCM4_ENST00000523944.1_Missense_Mutation_p.L448V|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	448					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGTGTGGAATTGCTTAAGGA	0.403																																							uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(1342-1344)TTG>GTG		minichromosome maintenance complex component 4							129.0	130.0	130.0					8																	48882525		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48882525T>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1342T>G	8.37:g.48882525T>G	ENSP00000262105:p.Leu448Val					MCM4_uc003xql.1_Missense_Mutation_p.L448V|MCM4_uc011ldi.1_Missense_Mutation_p.L435V	p.L448V	NM_182746	NP_877423	P33991	MCM4_HUMAN			11	1437	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	448					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1342T>G	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882241	0.33255	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.06449	3.3;3.3;3.3	6.17	2.29	0.28610	.	0.568191	0.18589	N	0.136787	T	0.05960	0.0155	L	0.48877	1.53	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.29488	-1.0010	10	0.24483	T	0.36	-14.2799	6.5997	0.22693	0.3805:0.0736:0.0:0.5458	.	448;448	B3KMX0;P33991	.;MCM4_HUMAN	V	448;448;435;408;166	ENSP00000430194:L448V;ENSP00000262105:L448V;ENSP00000427875:L166V	ENSP00000262105:L448V	L	+	1	2	MCM4	49045078	0.915000	0.31059	0.998000	0.56505	0.998000	0.95712	0.043000	0.13971	0.549000	0.28973	0.533000	0.62120	TTG		0.403	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		14	51	0	0	0	0.00499	0	14	51				
SNTG1	54212	broad.mit.edu	37	8	51351120	51351120	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:51351120C>T	ENST00000522124.1	+	5	841	c.180C>T	c.(178-180)atC>atT	p.I60I	SNTG1_ENST00000276467.5_Silent_p.I60I|SNTG1_ENST00000517473.1_Silent_p.I60I|SNTG1_ENST00000518864.1_Silent_p.I60I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	60	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGGTGACCATCAGAAGACAAA	0.378																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(178-180)ATC>ATT		syntrophin, gamma 1							100.0	84.0	90.0					8																	51351120		2202	4300	6502	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51351120C>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.180C>T	8.37:g.51351120C>T						SNTG1_uc003xqs.1_Silent_p.I60I|SNTG1_uc010lxz.1_Silent_p.I60I|SNTG1_uc011ldl.1_RNA	p.I60I	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			6	551	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	60			PDZ.		Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.180C>T	CCDS6147.1																																																																																				0.378	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			8	13	0	0	0	0.006214	0	8	13				
PENK	5179	broad.mit.edu	37	8	57354112	57354112	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:57354112C>T	ENST00000314922.3	-	2	599	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.G175S	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	175					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTATCACTGCCATCCTGGTGG	0.522																																							uc003xsz.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(523-525)GGC>AGC		proenkephalin							133.0	137.0	135.0					8																	57354112		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354112C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.523G>A	8.37:g.57354112C>T	ENSP00000324248:p.Gly175Ser					PENK_uc003xta.3_Missense_Mutation_p.G175S	p.G175S	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	604	-		all_lung(136;0.229)	175					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.523G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.155308	0.01700	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.16324	2.35;2.35	5.81	3.65	0.41850	.	0.426542	0.26692	N	0.022991	T	0.06050	0.0157	N	0.04508	-0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.42155	-0.9468	10	0.05436	T	0.98	-10.7051	8.2631	0.31797	0.0:0.6375:0.0:0.3625	.	175	P01210	PENK_HUMAN	S	175	ENSP00000324248:G175S;ENSP00000400894:G175S	ENSP00000324248:G175S	G	-	1	0	PENK	57516666	0.000000	0.05858	0.023000	0.16930	0.552000	0.35366	-0.443000	0.06862	0.551000	0.29008	0.655000	0.94253	GGC		0.522	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			71	71	0	0	0	0.01441	0	71	71				
TTPA	7274	broad.mit.edu	37	8	63985591	63985591	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:63985591T>C	ENST00000260116.4	-	2	292	c.261A>G	c.(259-261)ctA>ctG	p.L87L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	87					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTCTAGGGTGTAGATCTGCAC	0.383																																							uc003xux.1		NA																	0					0						c.(259-261)CTA>CTG		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						118.0	120.0	119.0					8																	63985591		2203	4300	6503	SO:0001819	synonymous_variant	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63985591T>C	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.261A>G	8.37:g.63985591T>C							p.L87L	NM_000370	NP_000361	P49638	TTPA_HUMAN			2	293	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	87					Q71V64	Silent	SNP	ENST00000260116.4	37	c.261A>G	CCDS6178.1																																																																																				0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		9	28	0	0	0	0.006214	0	9	28				
EYA1	2138	broad.mit.edu	37	8	72211423	72211423	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:72211423A>T	ENST00000340726.3	-	9	1324	c.685T>A	c.(685-687)Tat>Aat	p.Y229N	EYA1_ENST00000419131.1_Missense_Mutation_p.Y224N|EYA1_ENST00000388741.2_Missense_Mutation_p.Y195N|EYA1_ENST00000388743.2_Missense_Mutation_p.Y228N|EYA1_ENST00000388740.3_Missense_Mutation_p.Y196N|EYA1_ENST00000303824.7_Missense_Mutation_p.Y223N|EYA1_ENST00000388742.4_Missense_Mutation_p.Y229N	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	229					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTTATAATACTGTGCGTAC	0.468																																							uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(685-687)TAT>AAT		eyes absent 1 isoform b							277.0	233.0	248.0					8																	72211423		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211423A>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.685T>A	8.37:g.72211423A>T	ENSP00000342626:p.Tyr229Asn					EYA1_uc003xyr.3_Missense_Mutation_p.Y224N|EYA1_uc003xyt.3_Missense_Mutation_p.Y196N|EYA1_uc010lzf.2_Missense_Mutation_p.Y156N|EYA1_uc003xyu.2_Missense_Mutation_p.Y229N|EYA1_uc011lfe.1_Missense_Mutation_p.Y223N|EYA1_uc003xyv.2_Missense_Mutation_p.Y107N	p.Y229N	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		8	972	-	Breast(64;0.046)		229					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.685T>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546226	0.86022	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.996;1.0;1.0;0.996;1.0	D	0.89532	0.3786	10	0.23891	T	0.37	-11.3669	15.2449	0.73499	1.0:0.0:0.0:0.0	.	223;156;196;229;224	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	N	229;229;197;196;223;195;228;224	ENSP00000373394:Y229N;ENSP00000342626:Y229N;ENSP00000373392:Y196N;ENSP00000303221:Y223N;ENSP00000373393:Y195N;ENSP00000373395:Y228N;ENSP00000410176:Y224N	ENSP00000303221:Y223N	Y	-	1	0	EYA1	72373977	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.064000	0.61679	0.482000	0.46254	TAT		0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		36	109	0	0	0	0.011902	0	36	109				
REXO1L1P	254958	broad.mit.edu	37	8	86573734	86573734	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:86573734G>A	ENST00000379010.2	-	1	1992	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GAGGCGGACCGGTGGCGTGGC	0.687																																							uc011lfw.1		NA																	0					0						c.(1489-1491)CGG>TGG		exonuclease GOR							2.0	2.0	2.0					8																	86573734		739	1764	2503	SO:0001583	missense	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573734G>A																												ENST00000379010.2:c.1993C>T	8.37:g.86573734G>A	ENSP00000368295:p.Arg665Trp						p.R497W	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			1	1535	-			665						Missense_Mutation	SNP	ENST00000379010.2	37	c.1489C>T		.	.	.	.	.	.	.	.	.	.	G	11.75	1.732097	0.30684	.	.	ENSG00000205176	ENST00000379010	T	0.19250	2.16	0.793	0.793	0.18632	.	.	.	.	.	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	D	0.61080	0.989	B	0.43445	0.42	T	0.16512	-1.0400	9	0.72032	D	0.01	.	4.7632	0.13118	0.0:0.0:1.0:0.0	.	665	Q8IX06	GOR_HUMAN	W	665	ENSP00000368295:R665W	ENSP00000368295:R665W	R	-	1	2	REXO1L1	86760986	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.376000	0.20535	0.191000	0.20236	0.194000	0.17425	CGG		0.687	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			5	72	0	0	0	0.001984	0	5	72				
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:95164334C>G	ENST00000027335.3	-	13	1682	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	CDH17_ENST00000450165.2_Missense_Mutation_p.D520H|CDH17_ENST00000441892.2_Missense_Mutation_p.D306H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.D520H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTTCAAAATCAAGAGGCTGT	0.373																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1558-1560)GAT>CAT		cadherin 17 precursor							65.0	67.0	66.0					8																	95164334		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95164334C>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1558G>C	8.37:g.95164334C>G	ENSP00000027335:p.Asp520His					CDH17_uc011lgo.1_Missense_Mutation_p.D306H|CDH17_uc011lgp.1_Missense_Mutation_p.D520H	p.D520H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1683	-	Breast(36;4.65e-06)		520			Extracellular (Potential).|Cadherin 5.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1558G>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329830	0.81690	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.65364	-0.15;-0.15;-0.15	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000034	D	0.86406	0.5925	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90286	0.4319	10	0.87932	D	0	-31.2106	17.0562	0.86534	0.0:1.0:0.0:0.0	.	306;520	E7EN24;Q12864	.;CAD17_HUMAN	H	520;306;520	ENSP00000027335:D520H;ENSP00000392811:D306H;ENSP00000401468:D520H	ENSP00000027335:D520H	D	-	1	0	CDH17	95233510	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.331000	0.65905	2.836000	0.97738	0.655000	0.94253	GAT		0.373	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		3	48	0	0	0	0.004672	0	3	48				
YWHAZ	7534	broad.mit.edu	37	8	101936182	101936182	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:101936182C>A	ENST00000395957.2	-	6	1020		c.e6+1		YWHAZ_ENST00000522819.1_Splice_Site|YWHAZ_ENST00000395953.2_Splice_Site|YWHAZ_ENST00000457309.1_Splice_Site|YWHAZ_ENST00000521309.1_Splice_Site|YWHAZ_ENST00000353245.3_Splice_Site|YWHAZ_ENST00000395958.2_Splice_Site|YWHAZ_ENST00000395951.3_Splice_Site|YWHAZ_ENST00000395948.2_Splice_Site|YWHAZ_ENST00000522542.1_Splice_Site|YWHAZ_ENST00000395956.3_Splice_Site|YWHAZ_ENST00000419477.2_Splice_Site			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TATGTACTTACTGTCAAGTTG	0.313																																							uc011lhe.1		NA																	0					0						c.e5+1		tyrosine 3/tryptophan 5 -monooxygenase	Ginkgo biloba(DB01381)						166.0	163.0	164.0					8																	101936182		2203	4299	6502	SO:0001630	splice_region_variant	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101936182C>A	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.678+1G>T	8.37:g.101936182C>A						YWHAZ_uc003yjv.2_Splice_Site_p.T226_splice|YWHAZ_uc011lhf.1_Splice_Site_p.T226_splice|YWHAZ_uc003yjw.2_Splice_Site_p.T226_splice|YWHAZ_uc010mbq.2_Splice_Site_p.T149_splice|YWHAZ_uc011lhg.1_Splice_Site_p.T106_splice|YWHAZ_uc010mbr.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjx.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjy.2_Missense_Mutation_p.V227L	p.T226_splice	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		5	855	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)							A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Splice_Site	SNP	ENST00000395957.2	37	c.678_splice	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690718	0.68271	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3134	0.94202	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YWHAZ	102005358	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.959000	0.70339	2.640000	0.89533	0.650000	0.86243	.		0.313	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690	Intron	42	54	1	0	2.69774e-35	0.01441	4.81673e-35	42	54				
CSMD3	114788	broad.mit.edu	37	8	114186070	114186070	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:114186070C>G	ENST00000297405.5	-	4	834	c.590G>C	c.(589-591)gGg>gCg	p.G197A	CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000352409.3_Missense_Mutation_p.G197A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G157A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G197A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	197	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATCTTGTCCCCGACGTCGAA	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(589-591)GGG>GCG		CUB and Sushi multiple domains 3 isoform 1							128.0	115.0	120.0					8																	114186070		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114186070C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.590G>C	8.37:g.114186070C>G	ENSP00000297405:p.Gly197Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G157A|CSMD3_uc011lhx.1_Missense_Mutation_p.G197A|CSMD3_uc010mcx.1_Missense_Mutation_p.G197A	p.G197A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			4	749	-			197			Extracellular (Potential).|Sushi 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.590G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317566	0.81469	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000011	D	0.90041	0.6890	H	0.97315	3.98	0.47094	D	0.999314	D;D;D;D	0.89917	0.999;0.999;1.0;0.988	D;D;D;P	0.87578	0.998;0.998;0.998;0.908	D	0.93303	0.6678	10	0.66056	D	0.02	.	17.883	0.88846	0.0:1.0:0.0:0.0	.	197;197;197;157	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	A	157;197;197;197	ENSP00000345799:G157A;ENSP00000297405:G197A;ENSP00000412263:G197A;ENSP00000343124:G197A	ENSP00000297405:G197A	G	-	2	0	CSMD3	114255246	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	7.722000	0.84778	2.537000	0.85549	0.655000	0.94253	GGG		0.458	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	86	0	0	0	0.010504	0	21	86				
KCNQ3	3786	broad.mit.edu	37	8	133196529	133196529	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:133196529C>A	ENST00000388996.4	-	3	983	c.563G>T	c.(562-564)cGg>cTg	p.R188L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R188L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGTCGGCCCCGCCAGCCTTT	0.537																																							uc003ytj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(562-564)CGG>CTG		potassium voltage-gated channel KQT-like protein							85.0	88.0	87.0					8																	133196529		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196529C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.563G>T	8.37:g.133196529C>A	ENSP00000373648:p.Arg188Leu					KCNQ3_uc010mdt.2_Missense_Mutation_p.R188L	p.R188L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	788	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		188					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.563G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231258	0.95207	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97752	-4.52;-4.52;-4.52	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98559	1.0640	10	0.51188	T	0.08	-24.2394	19.1915	0.93669	0.0:1.0:0.0:0.0	.	188;188	E7ET42;O43525	.;KCNQ3_HUMAN	L	188;68;188;177;67	ENSP00000373648:R188L;ENSP00000429799:R68L;ENSP00000428790:R188L	ENSP00000373648:R188L	R	-	2	0	KCNQ3	133265711	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.917000	0.63369	2.779000	0.95612	0.655000	0.94253	CGG		0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		63	81	1	0	4.09171e-25	0.01441	7.03774e-25	63	81				
FAM135B	51059	broad.mit.edu	37	8	139160884	139160884	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:139160884T>C	ENST00000395297.1	-	14	3497	c.3327A>G	c.(3325-3327)gaA>gaG	p.E1109E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1109										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGAAATCCTTCAATCTTCA	0.363										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3325-3327)GAA>GAG		hypothetical protein LOC51059							72.0	67.0	69.0					8																	139160884		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139160884T>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3327A>G	8.37:g.139160884T>C		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.E1010E|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Silent_p.E671E|FAM135B_uc003yvb.2_Intron	p.E1109E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3498	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1109					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3327A>G	CCDS6375.2																																																																																				0.363	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		25	14	0	0	0	0.003954	0	25	14				
TSNARE1	203062	broad.mit.edu	37	8	143395770	143395770	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:143395770G>A	ENST00000307180.3	-	9	1223	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	TSNARE1_ENST00000519651.1_Missense_Mutation_p.P149L|TSNARE1_ENST00000524325.1_Missense_Mutation_p.P368L|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.P368L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	369					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGCGCCATGGGAAGCAGCGC	0.522																																							uc003ywk.2		NA																	0					0						c.(1105-1107)CCC>CTC		t-SNARE domain containing 1							70.0	64.0	66.0					8																	143395770		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143395770G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1106C>T	8.37:g.143395770G>A	ENSP00000303437:p.Pro369Leu					TSNARE1_uc011lju.1_Missense_Mutation_p.P368L|TSNARE1_uc003ywj.2_Missense_Mutation_p.P369L|TSNARE1_uc003ywl.3_Missense_Mutation_p.P149L	p.P369L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			9	1224	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		369					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1106C>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399959	0.62177	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.5	3.62	0.41486	t-SNARE (1);	0.000000	0.32444	U	0.006091	T	0.34308	0.0893	L	0.49640	1.575	0.38073	D	0.936449	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;P;D;D	0.66716	0.946;0.888;0.946;0.946	T	0.14615	-1.0466	10	0.54805	T	0.06	.	8.1823	0.31317	0.113:0.0:0.887:0.0	.	368;149;369;369	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	L	368;369;368;149	ENSP00000428763:P368L;ENSP00000303437:P369L;ENSP00000427770:P368L;ENSP00000429679:P149L	ENSP00000303437:P369L	P	-	2	0	TSNARE1	143393677	0.995000	0.38212	0.957000	0.39632	0.783000	0.44284	2.192000	0.42649	0.864000	0.35578	0.655000	0.94253	CCC		0.522	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		8	23	0	0	0	0.008291	0	8	23				
GPIHBP1	338328	broad.mit.edu	37	8	144296999	144296999	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:144296999C>A	ENST00000330824.2	+	3	368	c.293C>A	c.(292-294)aCc>aAc	p.T98N		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	98	UPAR/Ly6.				cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACGGGAACACCGGTAAGTGG	0.677																																							uc003yxu.1		NA																	0					0						c.(292-294)ACC>AAC		glycosylphosphatidylinositol anchored high							59.0	49.0	52.0					8																	144296999		2202	4298	6500	SO:0001583	missense	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144296999C>A	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.293C>A	8.37:g.144296999C>A	ENSP00000329266:p.Thr98Asn						p.T98N	NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN			3	368	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		98			UPAR/Ly6.		Q6P3T2|Q86W15	Missense_Mutation	SNP	ENST00000330824.2	37	c.293C>A	CCDS34954.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391935	0.62066	.	.	ENSG00000182851	ENST00000330824	T	0.80653	-1.4	3.95	2.91	0.33838	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.000000	0.51477	D	0.000097	D	0.86070	0.5845	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.75836	-0.3177	10	0.51188	T	0.08	-18.7902	8.0901	0.30795	0.0:0.8636:0.0:0.1364	.	98	Q8IV16	HDBP1_HUMAN	N	98	ENSP00000329266:T98N	ENSP00000329266:T98N	T	+	2	0	GPIHBP1	144368374	0.000000	0.05858	0.005000	0.12908	0.247000	0.25773	0.855000	0.27805	0.777000	0.33496	0.450000	0.29827	ACC		0.677	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		9	28	1	0	1.12685e-05	0.004482	1.29789e-05	9	28				
DENND4C	55667	broad.mit.edu	37	9	19316466	19316466	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:19316466C>T	ENST00000380432.2	+	7	864	c.831C>T	c.(829-831)tgC>tgT	p.C277C	DENND4C_ENST00000434457.2_Silent_p.C513C|DENND4C_ENST00000602925.1_Silent_p.C513C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	277					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.C277W(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAAGCCGTGCAAAAATCTAC	0.328																																							uc003znq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)TGC>TGT		DENN/MADD domain containing 4C							74.0	76.0	76.0					9																	19316466		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19316466C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.831C>T	9.37:g.19316466C>T						DENND4C_uc011lnc.1_5'UTR	p.C277C	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			7	864	+			277					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.831C>T																																																																																					0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		15	12	0	0	0	0.006122	0	15	12				
MOB3B	79817	broad.mit.edu	37	9	27359199	27359199	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:27359199T>A	ENST00000262244.5	-	3	878	c.454A>T	c.(454-456)Aag>Tag	p.K152*	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	152				K -> M (in Ref. 5; AAH33027). {ECO:0000305}.			metal ion binding (GO:0046872)										AGGATCTTCTTGCAGATCTGA	0.473																																							uc003zqn.2		NA																	0				ovary(1)|pleura(1)	2						c.(454-456)AAG>TAG		MOB1, Mps One Binder kinase activator-like 2B							137.0	145.0	143.0					9																	27359199		2203	4300	6503	SO:0001587	stop_gained	79817						metal ion binding|protein binding	g.chr9:27359199T>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.454A>T	9.37:g.27359199T>A	ENSP00000262244:p.Lys152*						p.K152*	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	3	950	-		all_neural(11;9.12e-11)	152	K -> M (in Ref. 5; AAH33027).				Q8NEB4|Q9H8V4	Nonsense_Mutation	SNP	ENST00000262244.5	37	c.454A>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	40	8.478652	0.98829	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.22	5.22	0.72569	.	0.171581	0.41001	D	0.000970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9175	13.923	0.63945	0.0:0.0:0.0:1.0	.	.	.	.	X	152	.	ENSP00000262244:K152X	K	-	1	0	MOBKL2B	27349199	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.036000	0.88901	1.973000	0.57446	0.260000	0.18958	AAG		0.473	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		49	125	0	0	0	0.01441	0	49	125				
LINGO2	158038	broad.mit.edu	37	9	27949358	27949358	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:27949358G>A	ENST00000379992.2	-	6	1761	c.1312C>T	c.(1312-1314)Ccg>Tcg	p.P438S	LINGO2_ENST00000308675.3_Missense_Mutation_p.P438S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACAGGCTGCGGGTCTCCATCT	0.517																																							uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1312-1314)CCG>TCG		leucine rich repeat and Ig domain containing 2							81.0	72.0	75.0					9																	27949358		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949358G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1312C>T	9.37:g.27949358G>A	ENSP00000369328:p.Pro438Ser					LINGO2_uc010mjf.1_Missense_Mutation_p.P438S|LINGO2_uc003zqv.1_Missense_Mutation_p.P438S	p.P438S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1506	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	438			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1312C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515925	0.64634	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.97791	-4.54;-4.54	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98905	1.0778	9	.	.	.	.	20.0989	0.97860	0.0:0.0:1.0:0.0	.	438	Q7L985	LIGO2_HUMAN	S	438	ENSP00000369328:P438S;ENSP00000310126:P438S	.	P	-	1	0	LINGO2	27939358	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CCG		0.517	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		14	40	0	0	0	0.00245	0	14	40				
TOPORS	10210	broad.mit.edu	37	9	32541401	32541401	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:32541401T>C	ENST00000360538.2	-	3	3238	c.3122A>G	c.(3121-3123)gAc>gGc	p.D1041G	TOPORS_ENST00000379858.1_Missense_Mutation_p.D976G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1041					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CATATCACAGTCTCTACCAAG	0.383																																							uc003zrb.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(3121-3123)GAC>GGC		topoisomerase I binding, arginine/serine-rich							76.0	73.0	74.0					9																	32541401		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541401T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3122A>G	9.37:g.32541401T>C	ENSP00000353735:p.Asp1041Gly					TOPORS_uc003zrc.2_Missense_Mutation_p.D974G	p.D1041G	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3289	-			1041					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3122A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424481	0.62733	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.23754	1.89;1.94	5.37	4.23	0.50019	.	0.000000	0.47455	D	0.000236	T	0.16214	0.0390	N	0.19112	0.55	0.29558	N	0.85087	B	0.20052	0.041	B	0.16722	0.016	T	0.08229	-1.0732	10	0.87932	D	0	-4.8719	8.9699	0.35899	0.0:0.0877:0.0:0.9123	.	1041	Q9NS56	TOPRS_HUMAN	G	1041;976	ENSP00000353735:D1041G;ENSP00000369187:D976G	ENSP00000353735:D1041G	D	-	2	0	TOPORS	32531401	0.996000	0.38824	0.981000	0.43875	0.992000	0.81027	1.569000	0.36428	2.171000	0.68590	0.528000	0.53228	GAC		0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		10	29	0	0	0	0.010729	0	10	29				
TAF1L	138474	broad.mit.edu	37	9	32635371	32635371	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:32635371C>T	ENST00000242310.4	-	1	296	c.207G>A	c.(205-207)ggG>ggA	p.G69G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	69					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCCCAAAGCCCCCAAGCCTG	0.537																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(205-207)GGG>GGA		TBP-associated factor RNA polymerase 1-like							118.0	115.0	116.0					9																	32635371		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635371C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.207G>A	9.37:g.32635371C>T						uc003zrh.1_Intron	p.G69G	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	297	-			69					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.207G>A	CCDS35003.1																																																																																				0.537	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			23	79	0	0	0	0.004656	0	23	79				
ARHGEF39	84904	broad.mit.edu	37	9	35663038	35663038	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:35663038C>T	ENST00000378387.3	-	6	695	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R157K|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	193	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										AGTATGGACTCTCTGGGCAGT	0.537																																							uc003zxm.1		NA																	0					0						c.(577-579)AGA>AAA		hypothetical protein LOC84904							106.0	91.0	96.0					9																	35663038		2203	4300	6503	SO:0001583	missense	84904				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr9:35663038C>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.578G>A	9.37:g.35663038C>T	ENSP00000367638:p.Arg193Lys					C9orf100_uc003zxl.2_RNA	p.R193K	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	690	-	all_epithelial(49;0.217)		193			DH.		Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.578G>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141304	0.37825	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.62232	0.04;0.04	5.94	1.49	0.22878	Dbl homology (DH) domain (5);	0.715744	0.13886	N	0.355992	T	0.36608	0.0973	N	0.11427	0.14	0.58432	D	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.12915	-1.0529	10	0.42905	T	0.14	-3.7415	3.4273	0.07416	0.0:0.4414:0.1985:0.3601	.	193	Q8N4T4	CI100_HUMAN	K	193;157	ENSP00000367638:R193K;ENSP00000367648:R157K	ENSP00000367638:R193K	R	-	2	0	C9orf100	35653038	0.819000	0.29175	0.994000	0.49952	0.918000	0.54935	0.007000	0.13174	0.392000	0.25172	0.650000	0.86243	AGA		0.537	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		9	51	0	0	0	0.006214	0	9	51				
SPATA31A6	389730	broad.mit.edu	37	9	43625072	43625072	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:43625072G>A	ENST00000332857.6	-	4	3643	c.3615C>T	c.(3613-3615)ctC>ctT	p.L1205L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1205					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGCCGTCATGAGACCCTGAG	0.468																																							uc011lrb.1		NA																	0					0						c.(3613-3615)CTC>CTT		hypothetical protein LOC389730							6.0	11.0	10.0					9																	43625072		569	1465	2034	SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43625072G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3615C>T	9.37:g.43625072G>A							p.L1205L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3644	-			1205						Silent	SNP	ENST00000332857.6	37	c.3615C>T	CCDS47973.1																																																																																				0.468	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		50	122	0	0	0	0.01441	0	50	122				
SPATA31B1P	404770	broad.mit.edu	37	9	84675888	84675888	+	IGR	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:84675888C>T								SPATA31D1 (65717 upstream) : RP11-15B24.5 (211782 downstream)																							AGAGTGGAGTCCCACAGGGGA	0.562																																							uc010mpu.1		NA																	0					NA						c.(535-537)GGG>GGA		hypothetical protein LOC404770							195.0	198.0	197.0					9																	84675888		2051	4187	6238	SO:0001628	intergenic_variant	0							g.chr9:84675888C>T																													9.37:g.84675888C>T							p.G179G	NM_001164339	NP_001157811					3	540	-									Silent	SNP		37	c.537G>A																																																																																				0	0.562									89	166	0	0	0	0.01441	0	89	166				
ROR2	4920	broad.mit.edu	37	9	94486827	94486827	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:94486827C>A	ENST00000375708.3	-	9	2147	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V	ROR2_ENST00000375715.1_Missense_Mutation_p.G510V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCGAGTTCCCCAGCAGCTT	0.572																																							uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1948-1950)GGG>GTG		receptor tyrosine kinase-like orphan receptor 2							74.0	67.0	70.0					9																	94486827		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486827C>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1949G>T	9.37:g.94486827C>A	ENSP00000364860:p.Gly650Val					ROR2_uc004ari.1_Missense_Mutation_p.G510V	p.G650V	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2148	-			650			Cytoplasmic (Potential).|Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1949G>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546441	0.45383	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83335	-1.71;-1.71	4.86	3.97	0.46021	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42420	D	0.000713	D	0.89955	0.6865	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.959	D	0.90766	0.4668	10	0.66056	D	0.02	.	13.4638	0.61241	0.0:0.9248:0.0:0.0752	.	650;510	Q01974;B1APY4	ROR2_HUMAN;.	V	510;650	ENSP00000364867:G510V;ENSP00000364860:G650V	ENSP00000364860:G650V	G	-	2	0	ROR2	93526648	1.000000	0.71417	0.524000	0.27887	0.833000	0.47200	4.399000	0.59703	1.279000	0.44446	-0.254000	0.11334	GGG		0.572	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			16	33	1	0	1.02788e-11	0.00499	1.45312e-11	16	33				
ZNF484	83744	broad.mit.edu	37	9	95609655	95609655	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:95609655C>G	ENST00000375495.3	-	5	1562	c.1414G>C	c.(1414-1416)Gaa>Caa	p.E472Q	ZNF484_ENST00000395505.2_Missense_Mutation_p.E436Q|ZNF484_ENST00000395506.3_Missense_Mutation_p.E474Q|ZNF484_ENST00000332591.6_Missense_Mutation_p.E436Q|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCCCACATTCTGAACATATA	0.393																																							uc004asu.1		NA																	0					0						c.(1414-1416)GAA>CAA		zinc finger protein 484 isoform a							72.0	72.0	72.0					9																	95609655		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609655C>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1414G>C	9.37:g.95609655C>G	ENSP00000364645:p.Glu472Gln					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.E474Q|ZNF484_uc010mrb.1_Missense_Mutation_p.E436Q|ZNF484_uc004asv.1_Missense_Mutation_p.E436Q	p.E472Q	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1563	-			472			C2H2-type 8.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1414G>C	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.601	-0.293051	0.05568	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	N	0.10685	0.025	0.21147	N	0.999772	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.39057	-0.9632	9	0.34782	T	0.22	.	10.8132	0.46559	0.0:1.0:0.0:0.0	.	474;472	B4DRI2;Q5JVG2	.;ZN484_HUMAN	Q	436;474;472;436	ENSP00000378881:E436Q;ENSP00000378882:E474Q;ENSP00000364645:E472Q;ENSP00000364646:E436Q	ENSP00000364646:E436Q	E	-	1	0	ZNF484	94649476	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.598000	0.05706	1.618000	0.50286	0.545000	0.68477	GAA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		6	31	0	0	0	0.001168	0	6	31				
NUTM2F	54754	broad.mit.edu	37	9	97082809	97082809	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:97082809C>A	ENST00000253262.4	-	5	1069	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	NUTM2F_ENST00000335456.7_Missense_Mutation_p.R350M|NUTM2F_ENST00000341207.4_Missense_Mutation_p.R350M	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	350	Pro-rich.																CTCCGCTGGCCTCTGGGGCCT	0.701																																							uc004aup.1		NA																	0					0						c.(1048-1050)AGG>ATG		hypothetical protein LOC54754							13.0	18.0	16.0					9																	97082809		1938	4085	6023	SO:0001583	missense	54754							g.chr9:97082809C>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1049G>T	9.37:g.97082809C>A	ENSP00000253262:p.Arg350Met						p.R350M	NM_017561	NP_060031	A1L443	FA22F_HUMAN			5	1070	-		Acute lymphoblastic leukemia(62;0.136)	350			Pro-rich.		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1049G>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	7.194	0.592069	0.13812	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.27104	1.69;2.63;2.43	1.2	0.257	0.15574	.	.	.	.	.	T	0.27663	0.0680	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.13575	-1.0504	9	0.45353	T	0.12	.	5.7308	0.18038	0.0:0.7962:0.0:0.2038	.	350	A1L443	FA22F_HUMAN	M	350	ENSP00000335067:R350M;ENSP00000253262:R350M;ENSP00000343865:R350M	ENSP00000253262:R350M	R	-	2	0	FAM22F	96122630	0.000000	0.05858	0.012000	0.15200	0.006000	0.05464	-0.115000	0.10741	0.095000	0.17434	-0.467000	0.05162	AGG		0.701	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		11	21	1	0	2.48551e-13	0.00499	3.69602e-13	11	21				
OR13F1	138805	broad.mit.edu	37	9	107267135	107267135	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:107267135A>T	ENST00000334726.2	+	1	681	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	198						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						GGTGCAGTTAATCATGCTGGT	0.438																																							uc011lvm.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(592-594)ATC>TTC		olfactory receptor, family 13, subfamily F,							339.0	303.0	315.0					9																	107267135		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267135A>T		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.592A>T	9.37:g.107267135A>T	ENSP00000334452:p.Ile198Phe						p.I198F	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	592	+			198			Helical; Name=5; (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.592A>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252242	0.39797	.	.	ENSG00000186881	ENST00000334726	T	0.35973	1.28	4.29	-2.12	0.07165	GPCR, rhodopsin-like superfamily (1);	0.247273	0.27886	N	0.017457	T	0.24812	0.0602	L	0.45698	1.435	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.13522	-1.0506	10	0.46703	T	0.11	.	5.5516	0.17093	0.511:0.1452:0.3438:0.0	.	198	Q8NGS4	O13F1_HUMAN	F	198	ENSP00000334452:I198F	ENSP00000334452:I198F	I	+	1	0	OR13F1	106306956	0.000000	0.05858	0.002000	0.10522	0.991000	0.79684	-0.467000	0.06664	-0.387000	0.07809	0.528000	0.53228	ATC		0.438	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			60	116	0	0	0	0.01441	0	60	116				
KIAA1958	158405	broad.mit.edu	37	9	115422119	115422119	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:115422119C>T	ENST00000337530.6	+	4	2217	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R669W	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	641										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTACATCCACCGGCCGCCCAC	0.587																																							uc004bgf.1		NA																	0				skin(1)	1						c.(1921-1923)CGG>TGG		hypothetical protein LOC158405							54.0	46.0	49.0					9																	115422119		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115422119C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1921C>T	9.37:g.115422119C>T	ENSP00000336940:p.Arg641Trp					KIAA1958_uc011lwx.1_Missense_Mutation_p.R669W	p.R641W	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			4	2096	+			641					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1921C>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494411	0.64186	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.81	4.9	0.64082	.	.	.	.	.	T	0.63780	0.2540	L	0.27053	0.805	0.46298	D	0.998975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67628	-0.5622	8	0.87932	D	0	.	12.3578	0.55186	0.1335:0.7379:0.1286:0.0	.	669;641	B7ZKW6;Q8N8K9	.;K1958_HUMAN	W	641;669	.	ENSP00000336940:R641W	R	+	1	2	KIAA1958	114461940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.751000	0.47508	1.422000	0.47177	0.655000	0.94253	CGG		0.587	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		3	29	0	0	0	0.004672	0	3	29				
PAPPA	5069	broad.mit.edu	37	9	119115904	119115904	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:119115904G>A	ENST00000328252.3	+	17	4548	c.4179G>A	c.(4177-4179)cgG>cgA	p.R1393R	PAPPA_ENST00000534838.1_Silent_p.R431R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1393	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGAAGACGGGCCTTCAAGA	0.537																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(4177-4179)CGG>CGA		pregnancy-associated plasma protein A							152.0	133.0	140.0					9																	119115904		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119115904G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4179G>A	9.37:g.119115904G>A						PAPPA_uc011lxq.1_Silent_p.R768R	p.R1393R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			17	4560	+			1393			Sushi 3.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.4179G>A	CCDS6813.1																																																																																				0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		24	56	0	0	0	0.00333	0	24	56				
TTLL11	158135	broad.mit.edu	37	9	124855658	124855658	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:124855658C>T	ENST00000373776.3	-	1	227	c.40G>A	c.(40-42)Gca>Aca	p.A14T	TTLL11_ENST00000474723.1_5'Flank|TTLL11_ENST00000321582.5_Missense_Mutation_p.A14T	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	14					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGCGAGGCTGCCCACGTGACC	0.692																																							uc004blt.1		NA																	0					0						c.(40-42)GCA>ACA		tubulin tyrosine ligase-like family, member 11							7.0	8.0	8.0					9																	124855658		1583	3000	4583	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124855658C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.40G>A	9.37:g.124855658C>T	ENSP00000362881:p.Ala14Thr					TTLL11_uc011lyl.1_Missense_Mutation_p.A14T|TTLL11_uc004blr.2_RNA|TTLL11_uc004blu.1_Missense_Mutation_p.A14T	p.A14T	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			1	228	-			14						Missense_Mutation	SNP	ENST00000373776.3	37	c.40G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587175	0.28268	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.08193	3.27;3.12	4.82	-6.17	0.02091	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.47787	-0.9090	8	.	.	.	.	7.9401	0.29952	0.0:0.4055:0.1152:0.4793	.	14;14	F8W6M1;Q8NHH1	.;TTL11_HUMAN	T	14	ENSP00000321346:A14T;ENSP00000362881:A14T	.	A	-	1	0	TTLL11	123895479	0.000000	0.05858	0.000000	0.03702	0.851000	0.48451	-2.080000	0.01368	-0.934000	0.03733	-0.258000	0.10820	GCA		0.692	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		6	12	0	0	0	0.001168	0	6	12				
PPP1R26	9858	broad.mit.edu	37	9	138376987	138376987	+	Missense_Mutation	SNP	G	G	T	rs369152269		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:138376987G>T	ENST00000356818.2	+	4	1180	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	PPP1R26_ENST00000605286.1_Missense_Mutation_p.A211S|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A211S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A211S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A211S|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	211					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCAGGGCTCCGCCTCCCCGGT	0.592																																							uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(631-633)GCC>TCC		1A6/DRIM (down-regulated in metastasis)							53.0	61.0	58.0					9																	138376987		2203	4297	6500	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376987G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.631G>T	9.37:g.138376987G>T	ENSP00000349274:p.Ala211Ser						p.A211S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	1180	+			211					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.631G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065592	0.20067	.	.	ENSG00000196422	ENST00000356818	T	0.10960	2.82	5.61	0.405	0.16361	.	0.476576	0.21149	N	0.079344	T	0.11665	0.0284	L	0.41710	1.295	0.09310	N	0.999999	P	0.48589	0.912	P	0.47251	0.542	T	0.14727	-1.0462	10	0.41790	T	0.15	-17.0248	10.6976	0.45907	0.3647:0.0:0.6353:0.0	.	211	Q5T8A7	PPR26_HUMAN	S	211	ENSP00000349274:A211S	ENSP00000349274:A211S	A	+	1	0	KIAA0649	137516808	0.508000	0.26154	0.849000	0.33467	0.033000	0.12548	0.766000	0.26560	0.143000	0.18926	-0.140000	0.14226	GCC		0.592	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		34	76	1	0	1.96642e-18	0.006999	3.21099e-18	34	76				
UAP1L1	91373	broad.mit.edu	37	9	139973038	139973038	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:139973038C>A	ENST00000409858.3	+	3	611	c.579C>A	c.(577-579)aaC>aaA	p.N193K	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Missense_Mutation_p.N70K	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	193							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACCCCGCCAACGTGGTCATGT	0.607																																							uc010ncb.2		NA																	0				ovary(1)	1						c.(577-579)AAC>AAA		UDP-N-acteylglucosamine pyrophosphorylase 1-like							71.0	57.0	62.0					9																	139973038		2203	4300	6503	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139973038C>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.579C>A	9.37:g.139973038C>A	ENSP00000386935:p.Asn193Lys					UAP1L1_uc004cla.3_Missense_Mutation_p.N70K	p.N193K	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	3	611	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	193					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.579C>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971882	0.74246	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.19105	2.17;2.17	5.01	-2.31	0.06765	.	0.044865	0.85682	D	0.000000	T	0.43545	0.1252	M	0.82517	2.595	0.40232	D	0.977868	D;D	0.89917	0.996;1.0	D;D	0.79784	0.933;0.993	T	0.49969	-0.8882	10	0.66056	D	0.02	.	12.4311	0.55575	0.0:0.4224:0.0:0.5776	.	193;70	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	K	193;70	ENSP00000386935:N193K;ENSP00000353409:N70K	ENSP00000353409:N70K	N	+	3	2	UAP1L1	139092859	0.040000	0.19996	0.723000	0.30687	0.996000	0.88848	-0.724000	0.04947	-0.328000	0.08539	0.561000	0.74099	AAC		0.607	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		8	50	1	0	1.26484e-09	0.00308	1.66071e-09	8	50				
ARSH	347527	broad.mit.edu	37	X	2933093	2933093	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:2933093C>T	ENST00000381130.2	+	4	423	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	141					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTACTTTTACGGGGTGCCTT	0.498																																							uc011mhj.1		NA																	0				lung(1)	1						c.(421-423)TAC>TAT		arylsulfatase family, member H							91.0	77.0	82.0					X																	2933093		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933093C>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.423C>T	X.37:g.2933093C>T							p.Y141Y	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			4	423	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	141						Silent	SNP	ENST00000381130.2	37	c.423C>T	CCDS35198.1																																																																																				0.498	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		8	21	0	0	0	0.004482	0	8	21				
MID1	4281	broad.mit.edu	37	X	10417750	10417750	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:10417750G>T	ENST00000317552.4	-	10	2062	c.1662C>A	c.(1660-1662)gcC>gcA	p.A554A	MID1_ENST00000380787.1_Silent_p.A554A|MID1_ENST00000380782.2_Intron|MID1_ENST00000380779.1_Silent_p.A554A|MID1_ENST00000380785.1_Silent_p.A554A|MID1_ENST00000380780.1_Silent_p.A554A|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Silent_p.A554A	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	554	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAAGACCAATGGCATACCTGC	0.478																																							uc004cte.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1660-1662)GCC>GCA		midline 1							48.0	40.0	43.0					X																	10417750		2203	4300	6503	SO:0001819	synonymous_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417750G>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1662C>A	X.37:g.10417750G>T						MID1_uc004ctd.3_Silent_p.A265A|MID1_uc004ctg.3_Silent_p.A554A|MID1_uc004cth.3_Silent_p.A516A|MID1_uc004ctk.3_Silent_p.A554A|MID1_uc004cti.3_Silent_p.A554A|MID1_uc004ctj.3_Silent_p.A554A|MID1_uc004csz.3_Silent_p.A226A|MID1_uc004cta.3_Silent_p.A310A|MID1_uc004ctb.3_Silent_p.A214A|MID1_uc004ctc.3_Silent_p.A321A	p.A554A	NM_033290	NP_150632	O15344	TRI18_HUMAN			10	1853	-			554			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	c.1662C>A	CCDS14138.1																																																																																				0.478	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			10	26	1	0	0.000673444	0.008291	0.000722447	10	26				
ZRSR2	8233	broad.mit.edu	37	X	15840940	15840940	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:15840940G>T	ENST00000307771.7	+	11	1048	c.1024G>T	c.(1024-1026)Gct>Tct	p.A342S		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	342					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATTCTGGGAAGCTAATAGAGA	0.463			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	NSCLC(197;1631 3042 5741 31152)	uc004cxg.3		NA		Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(1024-1026)GCT>TCT		U2 small nuclear RNA auxiliary factor 1-like 2							69.0	64.0	65.0					X																	15840940		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15840940G>T	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1024G>T	X.37:g.15840940G>T	ENSP00000303015:p.Ala342Ser						p.A342S	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			11	1069	+	Hepatocellular(33;0.183)		342					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.1024G>T	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536637	0.85812	.	.	ENSG00000169249	ENST00000307771	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.63703	0.917	T	0.75334	-0.3354	9	0.30854	T	0.27	.	18.6919	0.91586	0.0:0.0:1.0:0.0	.	342	Q15696	U2AFM_HUMAN	S	342	.	ENSP00000303015:A342S	A	+	1	0	ZRSR2	15750861	1.000000	0.71417	0.982000	0.44146	0.597000	0.36814	9.568000	0.98166	2.445000	0.82738	0.600000	0.82982	GCT		0.463	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		18	48	1	0	6.49762e-13	0.006122	9.57935e-13	18	48				
NHS	4810	broad.mit.edu	37	X	17746878	17746878	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:17746878A>G	ENST00000380060.3	+	7	4607	c.4269A>G	c.(4267-4269)ttA>ttG	p.L1423L	NHS_ENST00000398097.3_Silent_p.L1267L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1444					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGAGGATTTATTTGCAGTCA	0.443																																							uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4267-4269)TTA>TTG		Nance-Horan syndrome protein isoform 1							76.0	68.0	71.0					X																	17746878		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17746878A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4269A>G	X.37:g.17746878A>G						NHS_uc011mix.1_Silent_p.L1444L|NHS_uc004cxy.2_Silent_p.L1267L|NHS_uc004cxz.2_Silent_p.L1246L|NHS_uc004cya.2_Silent_p.L1146L	p.L1423L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			7	4607	+	Hepatocellular(33;0.183)		1423					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.4269A>G	CCDS14181.1																																																																																				0.443	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		20	53	0	0	0	0.014323	0	20	53				
CNKSR2	22866	broad.mit.edu	37	X	21627197	21627197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:21627197C>A	ENST00000379510.3	+	20	2190	c.2154C>A	c.(2152-2154)tgC>tgA	p.C718*	CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.C688*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.C718*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.C669*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	718					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.C718C(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGATGAGTTGCGCCAGTCCTT	0.458																																							uc004czx.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)|lung(1)	2						c.(2152-2154)TGC>TGA		connector enhancer of kinase suppressor of Ras							42.0	43.0	42.0					X																	21627197		2203	4300	6503	SO:0001587	stop_gained	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627197C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2154C>A	X.37:g.21627197C>A	ENSP00000368824:p.Cys718*					CNKSR2_uc004czw.2_Nonsense_Mutation_p.C718*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.C669*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.C688*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.C310*	p.C718*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2190	+			718					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_Mutation	SNP	ENST00000379510.3	37	c.2154C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	37	6.133391	0.97310	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.63	-2.59	0.06209	.	0.113353	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-14.3509	12.8172	0.57671	0.0:0.5297:0.0:0.4703	.	.	.	.	X	688;669;718;718	.	ENSP00000279451:C718X	C	+	3	2	CNKSR2	21537118	0.873000	0.30073	0.988000	0.46212	0.991000	0.79684	-0.088000	0.11198	-0.578000	0.05959	-0.365000	0.07479	TGC		0.458	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		11	24	1	0	6.40141e-05	0.010729	7.14963e-05	11	24				
MAGEB18	286514	broad.mit.edu	37	X	26157161	26157161	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:26157161G>T	ENST00000325250.1	+	2	246	c.59G>T	c.(58-60)tGt>tTt	p.C20F		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	20						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGGCTCGTTGTGAGAATCAG	0.537																																							uc004dbq.1		NA																	0				central_nervous_system(1)	1						c.(58-60)TGT>TTT		melanoma antigen family B, 18							52.0	46.0	48.0					X																	26157161		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157161G>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.59G>T	X.37:g.26157161G>T	ENSP00000314543:p.Cys20Phe						p.C20F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	246	+			20						Missense_Mutation	SNP	ENST00000325250.1	37	c.59G>T	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	9.082	0.999664	0.19121	.	.	ENSG00000176774	ENST00000325250	T	0.04156	3.69	4.15	-2.74	0.05932	Melanoma associated antigen, MAGE, N-terminal (1);	1.893740	0.02331	N	0.073971	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B	0.28667	0.219	B	0.22152	0.038	T	0.39901	-0.9591	10	0.72032	D	0.01	.	5.8307	0.18579	0.3341:0.4586:0.2073:0.0	.	20	Q96M61	MAGBI_HUMAN	F	20	ENSP00000314543:C20F	ENSP00000314543:C20F	C	+	2	0	MAGEB18	26067082	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.001000	0.12947	-0.831000	0.04256	0.600000	0.82982	TGT		0.537	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		17	35	1	0	4.75885e-15	0.00499	7.26499e-15	17	35				
MAGEB3	4114	broad.mit.edu	37	X	30254096	30254096	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30254096C>A	ENST00000361644.2	+	5	792	c.55C>A	c.(55-57)Cgg>Agg	p.R19R		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	19										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGCAGACCCGGGGTCAGAC	0.532																																							uc004dca.1		NA																	0					0						c.(55-57)CGG>AGG		melanoma antigen family B, 3							64.0	54.0	58.0					X																	30254096		2202	4300	6502	SO:0001819	synonymous_variant	4114							g.chrX:30254096C>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.55C>A	X.37:g.30254096C>A							p.R19R	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	792	+			19					A0AVE4|B3KQ52|O75861	Silent	SNP	ENST00000361644.2	37	c.55C>A	CCDS14220.1																																																																																				0.532	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		14	45	1	0	6.31663e-08	0.003163	7.83505e-08	14	45				
MAGEB3	4114	broad.mit.edu	37	X	30254525	30254525	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30254525G>T	ENST00000361644.2	+	5	1221	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	162	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAACATGGAGGTGGTATTTGG	0.393																																							uc004dca.1		NA																	0					0						c.(484-486)GTG>TTG		melanoma antigen family B, 3							93.0	87.0	89.0					X																	30254525		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254525G>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.484G>T	X.37:g.30254525G>T	ENSP00000355198:p.Val162Leu						p.V162L	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1221	+			162			MAGE.		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.484G>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227406	0.01518	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04275	3.66;3.66	3.96	-0.0503	0.13831	.	0.246149	0.32884	U	0.005527	T	0.01905	0.0060	N	0.11106	0.095	0.09310	N	1	B	0.21688	0.059	B	0.32533	0.147	T	0.42999	-0.9418	10	0.02654	T	1	.	0.8185	0.01107	0.2269:0.1804:0.4051:0.1876	.	162	O15480	MAGB3_HUMAN	L	162	ENSP00000368271:V162L;ENSP00000355198:V162L	ENSP00000355198:V162L	V	+	1	0	MAGEB3	30164446	1.000000	0.71417	0.069000	0.20011	0.029000	0.11900	0.669000	0.25142	-0.149000	0.11215	-0.192000	0.12808	GTG		0.393	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		15	32	1	0	0.000219431	0.00245	0.000240396	15	32				
CXorf21	80231	broad.mit.edu	37	X	30578036	30578036	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30578036G>T	ENST00000378962.3	-	3	759	c.437C>A	c.(436-438)tCt>tAt	p.S146Y		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	146										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACTGCTCTCAGAGGGAAAATC	0.423																																							uc004dcg.1		NA																	0				ovary(1)	1						c.(436-438)TCT>TAT		hypothetical protein LOC80231							57.0	56.0	56.0					X																	30578036		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578036G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.437C>A	X.37:g.30578036G>T	ENSP00000368245:p.Ser146Tyr						p.S146Y	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	713	-			146						Missense_Mutation	SNP	ENST00000378962.3	37	c.437C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.585314	0.00128	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	3.33	0.38152	.	0.458483	0.20563	N	0.089868	T	0.25044	0.0608	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31668	-0.9935	9	0.02654	T	1	-2.1034	3.9318	0.09288	0.0985:0.4439:0.313:0.1446	.	146	Q9HAI6	CX021_HUMAN	Y	146	.	ENSP00000368245:S146Y	S	-	2	0	CXorf21	30487957	0.781000	0.28676	0.010000	0.14722	0.399000	0.30720	2.068000	0.41471	1.181000	0.42912	0.513000	0.50165	TCT		0.423	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		12	29	1	0	1.49906e-05	0.00245	1.71511e-05	12	29				
DMD	1756	broad.mit.edu	37	X	32398778	32398778	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:32398778T>A	ENST00000357033.4	-	34	4900	c.4694A>T	c.(4693-4695)cAg>cTg	p.Q1565L	DMD_ENST00000378677.2_Missense_Mutation_p.Q1561L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1565	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCTCCAACTGTTGCTTTCT	0.323																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4693-4695)CAG>CTG		dystrophin Dp427m isoform							106.0	95.0	99.0					X																	32398778		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32398778T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4694A>T	X.37:g.32398778T>A	ENSP00000354923:p.Gln1565Leu					DMD_uc004dcw.2_Missense_Mutation_p.Q221L|DMD_uc004dcx.2_Missense_Mutation_p.Q224L|DMD_uc004dcz.2_Missense_Mutation_p.Q1442L|DMD_uc004dcy.1_Missense_Mutation_p.Q1561L|DMD_uc004ddb.1_Missense_Mutation_p.Q1557L|DMD_uc010ngo.1_Intron	p.Q1565L	NM_004006	NP_003997	P11532	DMD_HUMAN			34	4938	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1565			Spectrin 10.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4694A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	t	16.25	3.070832	0.55539	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34667	1.35;1.35	5.57	5.57	0.84162	.	0.270350	0.19078	U	0.123337	T	0.29389	0.0732	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.32467	0.372;0.1;0.255;0.118;0.118	B;B;B;B;B	0.29077	0.098;0.039;0.045;0.021;0.021	T	0.05131	-1.0904	10	0.25751	T	0.34	.	14.7101	0.69225	0.0:0.0:0.0:1.0	.	1557;1565;1561;224;221	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1557;224;221;1561;1565;1565;1442	ENSP00000367948:Q1561L;ENSP00000354923:Q1565L	ENSP00000354923:Q1565L	Q	-	2	0	DMD	32308699	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.288000	0.72679	1.855000	0.53841	0.433000	0.28618	CAG		0.323	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	50	0	0	0	0.00333	0	24	50				
FAM47B	170062	broad.mit.edu	37	X	34961170	34961170	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:34961170C>A	ENST00000329357.5	+	1	258	c.222C>A	c.(220-222)gaC>gaA	p.D74E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	74										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCGCCGTGACGAGTTTTTAC	0.527																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(220-222)GAC>GAA		hypothetical protein LOC170062							85.0	75.0	78.0					X																	34961170		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961170C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.222C>A	X.37:g.34961170C>A	ENSP00000328307:p.Asp74Glu						p.D74E	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	240	+			74					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.222C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	c	0.078	-1.188465	0.01607	.	.	ENSG00000189132	ENST00000329357	T	0.20200	2.09	0.834	-1.67	0.08238	.	.	.	.	.	T	0.21347	0.0514	L	0.55481	1.735	0.09310	N	1	D	0.56287	0.975	P	0.55303	0.773	T	0.17319	-1.0373	8	0.05721	T	0.95	.	.	.	.	.	74	Q8NA70	FA47B_HUMAN	E	74	ENSP00000328307:D74E	ENSP00000328307:D74E	D	+	3	2	FAM47B	34871091	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-3.280000	0.00528	-1.426000	0.01994	-2.272000	0.00274	GAC		0.527	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		24	55	1	0	3.08376e-08	0.00333	3.85284e-08	24	55				
FAM47B	170062	broad.mit.edu	37	X	34961213	34961213	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:34961213G>T	ENST00000329357.5	+	1	301	c.265G>T	c.(265-267)Gac>Tac	p.D89Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	89										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCCAAGCTGACCGCAAAAG	0.532																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(265-267)GAC>TAC		hypothetical protein LOC170062							85.0	78.0	81.0					X																	34961213		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961213G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.265G>T	X.37:g.34961213G>T	ENSP00000328307:p.Asp89Tyr						p.D89Y	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	283	+			89					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.265G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	g	9.978	1.227230	0.22542	.	.	ENSG00000189132	ENST00000329357	T	0.22336	1.96	0.834	0.834	0.18880	.	.	.	.	.	T	0.39226	0.1070	M	0.73598	2.24	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.10359	-1.0633	9	0.59425	D	0.04	.	4.5473	0.12087	0.0:0.4159:0.584:1.0E-4	.	89	Q8NA70	FA47B_HUMAN	Y	89	ENSP00000328307:D89Y	ENSP00000328307:D89Y	D	+	1	0	FAM47B	34871134	0.015000	0.18098	0.014000	0.15608	0.036000	0.12997	0.182000	0.16900	0.692000	0.31613	0.287000	0.19450	GAC		0.532	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		29	56	1	0	2.81731e-10	0.010818	3.79565e-10	29	56				
ZNF630	57232	broad.mit.edu	37	X	47917869	47917869	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:47917869C>G	ENST00000409324.3	-	5	2188	c.1962G>C	c.(1960-1962)ttG>ttC	p.L654F	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.L530F|ZNF630_ENST00000442455.3_Missense_Mutation_p.L640F	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGCATATATACAAGGTGTCTT	0.438																																							uc004div.3		NA																	0				ovary(1)|lung(1)	2						c.(1960-1962)TTG>TTC		zinc finger protein 630							52.0	39.0	44.0					X																	47917869		2194	4288	6482	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47917869C>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1962G>C	X.37:g.47917869C>G	ENSP00000386393:p.Leu654Phe					ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.L530F	p.L654F	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			5	2214	-			654					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1962G>C	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.462596	0.00171	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.08720	3.17;3.06;3.23	2.48	-0.269	0.12930	.	.	.	.	.	T	0.06735	0.0172	M	0.64170	1.965	0.09310	N	1	P	0.43094	0.799	B	0.34180	0.177	T	0.31503	-0.9941	9	0.87932	D	0	.	0.2062	0.00151	0.2293:0.163:0.2305:0.3772	.	654	Q2M218	ZN630_HUMAN	F	640;530;654	ENSP00000393163:L640F;ENSP00000354683:L530F;ENSP00000386393:L654F	ENSP00000354683:L530F	L	-	3	2	ZNF630	47802813	0.375000	0.25089	0.005000	0.12908	0.019000	0.09904	0.878000	0.28126	-0.257000	0.09459	-0.498000	0.04607	TTG		0.438	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		14	36	0	0	0	0.004007	0	14	36				
PPP1R3F	89801	broad.mit.edu	37	X	49138527	49138527	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:49138527G>T	ENST00000055335.6	+	3	1159		c.e3+1		PPP1R3F_ENST00000495799.1_Splice_Site|PPP1R3F_ENST00000466508.1_Splice_Site|PPP1R3F_ENST00000376188.1_Splice_Site|PPP1R3F_ENST00000438316.1_Splice_Site	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F						regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GACACTTCAGGTAAGTGGGTC	0.592																																							uc004dnh.1		NA																	0				ovary(2)|skin(1)	3						c.e3+1		protein phosphatase 1, regulatory (inhibitor)							90.0	62.0	72.0					X																	49138527		2203	4300	6503	SO:0001630	splice_region_variant	89801					integral to membrane		g.chrX:49138527G>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1143+1G>T	X.37:g.49138527G>T						PPP1R3F_uc011mnd.1_Splice_Site_p.Q52_splice|PPP1R3F_uc004dni.2_Splice_Site_p.Q35_splice|PPP1R3F_uc004dnj.1_Splice_Site_p.Q35_splice	p.Q381_splice	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			3	1159	+	Ovarian(276;0.236)							A2VDJ8|B3KPW2|E9PCM3	Splice_Site	SNP	ENST00000055335.6	37	c.1143_splice	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227041	0.39399	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000471261;ENST00000376188	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1751	0.42933	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R3F	49025471	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.817000	0.55668	2.155000	0.67459	0.529000	0.55759	.		0.592	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	Intron	10	22	1	0	0.000673444	0.008291	0.000722447	10	22				
DGKK	139189	broad.mit.edu	37	X	50121611	50121611	+	RNA	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:50121611G>A	ENST00000376025.2	-	0	3000							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTGATGATACGGGACATTGCC	0.542																																							uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(2941-2943)CGT>TGT		diacylglycerol kinase kappa							104.0	92.0	96.0					X																	50121611		2065	4174	6239			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50121611G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121611G>A							p.R981C	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			21	3001	-	Ovarian(276;0.236)		981					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.2941C>T																																																																																					0.542	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		5	20	0	0	0	0.001984	0	5	20				
HSD17B10	3028	broad.mit.edu	37	X	53459013	53459013	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:53459013C>A	ENST00000168216.6	-	4	436	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C	HSD17B10_ENST00000375304.5_Missense_Mutation_p.G137C|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000375298.4_Missense_Mutation_p.G137C|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	137					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						TCATTCTGGCCCATCTCACCA	0.562																																							uc004dsl.1		NA																	0					0						c.(409-411)GGC>TGC		hydroxysteroid (17-beta) dehydrogenase 10	NADH(DB00157)						108.0	85.0	93.0					X																	53459013		2203	4300	6503	SO:0001583	missense	3028				branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity	g.chrX:53459013C>A	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.409G>T	X.37:g.53459013C>A	ENSP00000168216:p.Gly137Cys					HSD17B10_uc004dsm.1_Missense_Mutation_p.G137C	p.G137C	NM_004493	NP_004484	Q99714	HCD2_HUMAN			4	440	-			137					Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	ENST00000168216.6	37	c.409G>T	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271479	0.59649	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	D;D;T	0.94046	-3.34;-3.34;-1.08	5.81	1.96	0.26148	NAD(P)-binding domain (1);	0.312441	0.37577	N	0.002029	D	0.88062	0.6336	N	0.24115	0.695	0.58432	D	0.999998	P;B	0.44776	0.843;0.01	P;B	0.47015	0.534;0.005	T	0.82963	-0.0196	10	0.56958	D	0.05	.	5.8367	0.18611	0.268:0.5792:0.0:0.1528	.	137;137	Q99714-2;Q99714	.;HCD2_HUMAN	C	137	ENSP00000168216:G137C;ENSP00000364453:G137C;ENSP00000364447:G137C	ENSP00000168216:G137C	G	-	1	0	HSD17B10	53475738	0.991000	0.36638	0.998000	0.56505	0.996000	0.88848	0.281000	0.18810	-0.035000	0.13691	-0.178000	0.13098	GGC		0.562	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493		26	53	1	0	1.85244e-09	0.00333	2.42604e-09	26	53				
HUWE1	10075	broad.mit.edu	37	X	53579703	53579703	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:53579703C>G	ENST00000342160.3	-	61	9103	c.8646G>C	c.(8644-8646)caG>caC	p.Q2882H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q2882H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2882					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTCTGGGCTGCTCAGAAC	0.607																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(8644-8646)CAG>CAC		HECT, UBA and WWE domain containing 1							48.0	44.0	45.0					X																	53579703		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53579703C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8646G>C	X.37:g.53579703C>G	ENSP00000340648:p.Gln2882His					HUWE1_uc004dsn.2_Missense_Mutation_p.Q1706H	p.Q2882H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			62	9048	-			2882					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.8646G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.51|11.51	1.660979|1.660979	0.29515|0.29515	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.37411	.|1.2;1.2	5.88|5.88	2.06|2.06	0.26882|0.26882	.|.	.|0.792879	.|0.11584	.|N	.|0.549413	T|T	0.29783|0.29783	0.0744|0.0744	L|L	0.27053|0.27053	0.805|0.805	0.44702|0.44702	D|D	0.997692|0.997692	.|B;P	.|0.37276	.|0.214;0.589	.|B;B	.|0.44224	.|0.191;0.444	T|T	0.05733|0.05733	-1.0867|-1.0867	5|10	.|0.48119	.|T	.|0.1	.|.	6.1665|6.1665	0.20394|0.20394	0.1314:0.6445:0.0:0.2242|0.1314:0.6445:0.0:0.2242	.|.	.|2882;2882	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	P|H	1916|2882	.|ENSP00000340648:Q2882H;ENSP00000262854:Q2882H	.|ENSP00000262854:Q2882H	A|Q	-|-	1|3	0|2	HUWE1|HUWE1	53596428|53596428	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.061000|0.061000	0.14366|0.14366	0.257000|0.257000	0.21650|0.21650	0.600000|0.600000	0.82982|0.82982	GCC|CAG		0.607	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		20	43	0	0	0	0.00278	0	20	43				
FGD1	2245	broad.mit.edu	37	X	54496629	54496629	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:54496629G>T	ENST00000375135.3	-	4	1654	c.921C>A	c.(919-921)agC>agA	p.S307R		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	307	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAGGCTGTGGCTGGGGGGCC	0.657																																							uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(919-921)AGC>AGA		faciogenital dysplasia protein							27.0	20.0	22.0					X																	54496629		2201	4293	6494	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496629G>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.921C>A	X.37:g.54496629G>T	ENSP00000364277:p.Ser307Arg					FGD1_uc011moi.1_Missense_Mutation_p.S65R	p.S307R	NM_004463	NP_004454	P98174	FGD1_HUMAN			4	1655	-			307			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.921C>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779793	0.31502	.	.	ENSG00000102302	ENST00000375135	T	0.76968	-1.06	5.56	0.821	0.18799	.	0.305889	0.29266	N	0.012643	T	0.54208	0.1844	N	0.19112	0.55	0.24529	N	0.994125	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.24083	-1.0170	10	0.26408	T	0.33	-14.5129	2.0608	0.03592	0.2589:0.1831:0.4373:0.1207	.	65;307	B4DS99;P98174	.;FGD1_HUMAN	R	307	ENSP00000364277:S307R	ENSP00000364277:S307R	S	-	3	2	FGD1	54513354	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	2.426000	0.44731	0.535000	0.28714	0.436000	0.28706	AGC		0.657	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		13	10	1	0	1.49906e-05	0.00245	1.71511e-05	13	10				
ALAS2	212	broad.mit.edu	37	X	55042168	55042168	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:55042168G>T	ENST00000330807.5	-	8	1148	c.1011C>A	c.(1009-1011)atC>atA	p.I337I	ALAS2_ENST00000396198.3_Silent_p.I324I|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Silent_p.I300I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	337					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CGAGGGGACAGATGGCACCTG	0.552																																							uc004dua.3		NA																	0				ovary(1)	1						c.(1009-1011)ATC>ATA		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						75.0	50.0	59.0					X																	55042168		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042168G>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1011C>A	X.37:g.55042168G>T						ALAS2_uc004dub.3_Silent_p.I324I|ALAS2_uc004dud.3_Silent_p.I300I	p.I337I	NM_000032	NP_000023	P22557	HEM0_HUMAN			8	1149	-			337					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.1011C>A	CCDS14366.1																																																																																				0.552	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		10	32	1	0	7.03913e-09	0.013537	9.0353e-09	10	32				
KLF8	11279	broad.mit.edu	37	X	56310764	56310764	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:56310764G>T	ENST00000468660.1	+	6	1205	c.917G>T	c.(916-918)tGc>tTc	p.C306F	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCTTATAAATGCACCTGGGAT	0.448																																							uc004dur.2		NA																	0				ovary(1)	1						c.(916-918)TGC>TTC		Kruppel-like factor 8 isoform 1							34.0	31.0	32.0					X																	56310764		2203	4298	6501	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56310764G>T	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.917G>T	X.37:g.56310764G>T	ENSP00000417303:p.Cys306Phe					KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA	p.C306F	NM_007250	NP_009181	O95600	KLF8_HUMAN			6	1863	+			306			C2H2-type 2.		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.917G>T	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588732	0.66105	.	.	ENSG00000102349	ENST00000468660	D	0.85088	-1.94	3.87	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070059	0.64402	D	0.000011	D	0.94155	0.8125	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95527	0.8600	10	0.87932	D	0	.	13.3641	0.60674	0.0:0.0:1.0:0.0	.	306	O95600	KLF8_HUMAN	F	306	ENSP00000417303:C306F	ENSP00000417303:C306F	C	+	2	0	KLF8	56327489	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.036000	0.93758	1.934000	0.56057	0.592000	0.82586	TGC		0.448	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		2	7	1	0	0.004672	0.004672	0.00484087	2	7				
UBQLN2	29978	broad.mit.edu	37	X	56591627	56591627	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:56591627G>T	ENST00000338222.5	+	1	1602	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	441					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCAGAATCCAGACACACTATC	0.532																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NA																	0				ovary(1)|skin(1)	2						c.(1321-1323)GAC>TAC		ubiquilin 2							56.0	47.0	50.0					X																	56591627		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591627G>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1321G>T	X.37:g.56591627G>T	ENSP00000345195:p.Asp441Tyr					UBQLN2_uc011moq.1_Missense_Mutation_p.D441Y	p.D441Y	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1556	+			441					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1321G>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908153	0.52333	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.85556	-2.0	4.63	4.63	0.57726	Heat shock chaperonin-binding (1);	0.675945	0.14229	N	0.332842	D	0.91389	0.7283	M	0.80616	2.505	0.47214	D	0.999351	D;D	0.69078	0.989;0.997	P;D	0.66847	0.885;0.947	D	0.90147	0.4218	10	0.45353	T	0.12	-7.5705	11.8808	0.52574	0.0:0.0:1.0:0.0	.	441;441	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	Y	441	ENSP00000345195:D441Y	ENSP00000345195:D441Y	D	+	1	0	UBQLN2	56608352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.290000	0.77057	0.594000	0.82650	GAC		0.532	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		13	40	1	0	2.32078e-09	0.003163	3.01644e-09	13	40				
PJA1	64219	broad.mit.edu	37	X	68382689	68382689	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:68382689A>T	ENST00000361478.1	-	2	770	c.393T>A	c.(391-393)gcT>gcA	p.A131A	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Silent_p.A131A|PJA1_ENST00000374571.4_Silent_p.A76A	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	131					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAACAGGCCCAGCCCCCTCCT	0.532																																							uc004dxh.2		NA																	0					0						c.(391-393)GCT>GCA		praja 1 isoform a							51.0	49.0	50.0					X																	68382689		2203	4300	6503	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68382689A>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.393T>A	X.37:g.68382689A>T						PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Silent_p.A76A	p.A131A	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	679	-			131					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.393T>A	CCDS14393.1																																																																																				0.532	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		25	34	0	0	0	0.005443	0	25	34				
TEX11	56159	broad.mit.edu	37	X	69902567	69902567	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:69902567C>A	ENST00000395889.2	-	15	1313	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	TEX11_ENST00000344304.3_Missense_Mutation_p.K386N|TEX11_ENST00000374333.2_Missense_Mutation_p.K371N|TEX11_ENST00000374320.2_Missense_Mutation_p.K61N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	386					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAAGTTCTTCCTTCCTTTGTA	0.333																																							uc004dyl.2		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(1156-1158)AAG>AAT		testis expressed sequence 11 isoform 1							81.0	68.0	73.0					X																	69902567		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69902567C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1158G>T	X.37:g.69902567C>A	ENSP00000379226:p.Lys386Asn					TEX11_uc004dyk.2_Missense_Mutation_p.K61N|TEX11_uc004dym.2_Missense_Mutation_p.K371N	p.K386N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			15	1320	-	Renal(35;0.156)		386					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1158G>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302313	0.01353	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.49139	1.39;1.39;0.79;1.39	4.56	-4.36	0.03645	.	0.300469	0.32703	N	0.005755	T	0.38453	0.1041	L	0.42245	1.32	0.09310	N	1	P;P	0.52170	0.939;0.951	P;P	0.52554	0.577;0.702	T	0.40534	-0.9558	9	.	.	.	-1.5636	2.7009	0.05149	0.1268:0.2426:0.1232:0.5074	.	371;386	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	371;386;61;386	ENSP00000363453:K371N;ENSP00000379226:K386N;ENSP00000363440:K61N;ENSP00000340995:K386N	.	K	-	3	2	TEX11	69819292	0.474000	0.25886	0.005000	0.12908	0.482000	0.33219	-0.779000	0.04659	-1.833000	0.01195	-0.458000	0.05436	AAG		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			7	14	1	0	1.58986e-06	0.008291	1.87728e-06	7	14				
ZMYM3	9203	broad.mit.edu	37	X	70465190	70465190	+	Splice_Site	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:70465190C>G	ENST00000353904.2	-	18	3193	c.3006G>C	c.(3004-3006)aaG>aaC	p.K1002N	ZMYM3_ENST00000373998.1_Splice_Site_p.K990N|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Splice_Site_p.K1004N|ZMYM3_ENST00000373988.1_Splice_Site_p.K1004N|ZMYM3_ENST00000314425.5_Splice_Site_p.K1002N	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1002					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTTACTCACTCTTAGGGAAGT	0.527																																							uc004dzh.1		NA																	0				ovary(1)	1						c.(3004-3006)AAG>AAC		zinc finger protein 261							104.0	74.0	84.0					X																	70465190		2203	4300	6503	SO:0001630	splice_region_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465190C>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3007+1G>C	X.37:g.70465190C>G						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K1002N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K990N	p.K1002N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			18	3093	-	Renal(35;0.156)		1002					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3006G>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	12.79	2.044490	0.36085	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.45668	1.48;0.89;1.48;1.48;1.48	5.23	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	L	0.29908	0.895	0.34308	D	0.685164	D;D	0.64830	0.994;0.99	P;P	0.61592	0.891;0.78	T	0.49570	-0.8926	10	0.27082	T	0.32	-14.7082	8.4466	0.32845	0.0:0.6131:0.0:0.3869	.	990;1002	Q14202-2;Q14202	.;ZMYM3_HUMAN	N	1002;990;1002;1004;1004	ENSP00000322845:K1002N;ENSP00000363110:K990N;ENSP00000343909:K1002N;ENSP00000363096:K1004N;ENSP00000363100:K1004N	ENSP00000322845:K1002N	K	-	3	2	ZMYM3	70381915	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.377000	0.34317	0.293000	0.22520	0.597000	0.82753	AAG		0.527	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	Missense_Mutation	20	45	0	0	0	0.00278	0	20	45				
RGAG4	340526	broad.mit.edu	37	X	71350845	71350845	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:71350845G>A	ENST00000545866.1	-	1	913	c.546C>T	c.(544-546)ccC>ccT	p.P182P	NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Silent_p.P182P	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	182										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGGCGCCCCCGGGGAAATGAA	0.582																																							uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(544-546)CCC>CCT		retrotransposon gag domain containing 4							26.0	28.0	27.0					X																	71350845		1873	4089	5962	SO:0001819	synonymous_variant	340526							g.chrX:71350845G>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.546C>T	X.37:g.71350845G>A						NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	p.P182P	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	907	-	Renal(35;0.156)		182					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.546C>T	CCDS55446.1																																																																																				0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		7	32	0	0	0	0.001984	0	7	32				
MAGEE1	57692	broad.mit.edu	37	X	75648363	75648363	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:75648363C>T	ENST00000361470.2	+	1	318	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	14	Poly-Arg.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ccgccgccgccgcgTTGCAAA	0.667																																							uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(40-42)CGC>TGC		melanoma antigen family E, 1							13.0	15.0	14.0					X																	75648363		2192	4273	6465	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648363C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.40C>T	X.37:g.75648363C>T	ENSP00000354912:p.Arg14Cys						p.R14C	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	247	+			14			Poly-Arg.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.40C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	6.624	0.483570	0.12581	.	.	ENSG00000198934	ENST00000361470	T	0.03152	4.03	2.34	1.41	0.22369	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.32089	N	0.592188	D	0.62365	0.991	B	0.35039	0.194	T	0.49560	-0.8927	9	0.62326	D	0.03	.	5.3852	0.16215	0.3336:0.6664:0.0:0.0	.	14	Q9HCI5	MAGE1_HUMAN	C	14	ENSP00000354912:R14C	ENSP00000354912:R14C	R	+	1	0	MAGEE1	75564767	0.000000	0.05858	0.868000	0.34077	0.058000	0.15608	-0.319000	0.08039	0.364000	0.24374	0.600000	0.82982	CGC		0.667	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		5	17	0	0	0	0.000602	0	5	17				
DRP2	1821	broad.mit.edu	37	X	100505499	100505499	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:100505499G>T	ENST00000395209.3	+	15	2155	c.1628G>T	c.(1627-1629)cGt>cTt	p.R543L	DRP2_ENST00000538510.1_Missense_Mutation_p.R543L|DRP2_ENST00000402866.1_Missense_Mutation_p.R543L|DRP2_ENST00000541709.1_Missense_Mutation_p.R465L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	543					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGTGCCCCGTCAGCTGGGT	0.612																																							uc004egz.2		NA																	0				ovary(2)	2						c.(1627-1629)CGT>CTT		dystrophin related protein 2							101.0	88.0	93.0					X																	100505499		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100505499G>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1628G>T	X.37:g.100505499G>T	ENSP00000378635:p.Arg543Leu					DRP2_uc011mrh.1_Missense_Mutation_p.R465L	p.R543L	NM_001939	NP_001930	Q13474	DRP2_HUMAN			15	1997	+			543					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1628G>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566689	0.86439	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.53	5.53	0.82687	EF-hand domain, type 2 (1);	0.054458	0.85682	D	0.000000	D	0.85767	0.5773	M	0.83774	2.66	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.87553	0.2466	10	0.87932	D	0	-10.4086	18.4864	0.90831	0.0:0.0:1.0:0.0	.	543	Q13474	DRP2_HUMAN	L	543;543;465;543	ENSP00000385038:R543L;ENSP00000378635:R543L;ENSP00000444752:R465L;ENSP00000441051:R543L	ENSP00000378635:R543L	R	+	2	0	DRP2	100392155	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.657000	0.98554	2.562000	0.86427	0.600000	0.82982	CGT		0.612	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		35	78	1	0	9.8876e-21	0.004878	1.66189e-20	35	78				
TAF7L	54457	broad.mit.edu	37	X	100548010	100548010	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:100548010G>C	ENST00000372907.3	-	1	35	c.24C>G	c.(22-24)ctC>ctG	p.L8L	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	8					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAGAAATGGGGAGCTGTCCCT	0.493																																					Ovarian(104;431 1530 3210 15406 18594)	Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NA																	0				breast(1)	1						c.(22-24)CTC>CTG		TATA box binding protein-associated factor, RNA							190.0	193.0	192.0					X																	100548010		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100548010G>C	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.24C>G	X.37:g.100548010G>C						TAF7L_uc004ehc.1_5'Flank	p.L8L	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			1	36	-			8					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.24C>G	CCDS35347.1																																																																																				0.493	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			76	235	0	0	0	0.01441	0	76	235				
NXF5	55998	broad.mit.edu	37	X	101092551	101092551	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101092551T>A	ENST00000361708.2	-	15	1354	c.995A>T	c.(994-996)cAg>cTg	p.Q332L	NXF5_ENST00000473265.2_Missense_Mutation_p.Q332L|NXF5_ENST00000537026.1_Missense_Mutation_p.Q332L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	332	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAAGTCATGCTGAGTTTCAGG	0.542																																							uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.(994-996)CAG>CTG		nuclear RNA export factor 5							203.0	160.0	174.0					X																	101092551		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092551T>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.995A>T	X.37:g.101092551T>A	ENSP00000355286:p.Gln332Leu					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.Q332L	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			15	1355	-			332			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.995A>T		.	.	.	.	.	.	.	.	.	.	.	13.33	2.203559	0.38905	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.52057	0.68;0.68;0.76	2.11	2.11	0.27256	.	0.145644	0.45606	N	0.000358	T	0.38665	0.1049	L	0.52823	1.66	0.50171	D	0.999859	B	0.14805	0.011	B	0.15870	0.014	T	0.31861	-0.9928	10	0.45353	T	0.12	.	7.5811	0.27965	0.0:0.0:0.0:1.0	.	332	A2RRM0	.	L	332	ENSP00000442401:Q332L;ENSP00000426978:Q332L;ENSP00000355286:Q332L	ENSP00000263032:Q332L	Q	-	2	0	NXF5	100979207	1.000000	0.71417	0.914000	0.36105	0.085000	0.17905	4.940000	0.63533	1.111000	0.41721	0.226000	0.17787	CAG		0.542	NXF5-201	KNOWN	basic	protein_coding	protein_coding				53	110	0	0	0	0.01441	0	53	110				
GPRASP1	9737	broad.mit.edu	37	X	101911737	101911737	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101911737G>T	ENST00000361600.5	+	5	3697	c.2896G>T	c.(2896-2898)Ggg>Tgg	p.G966W	GPRASP1_ENST00000537097.1_Missense_Mutation_p.G966W|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G966W|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G966W|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	966	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGAGGAAGGGGCCATTGT	0.473																																							uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(2896-2898)GGG>TGG		G protein-coupled receptor associated sorting							120.0	109.0	113.0					X																	101911737		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911737G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2896G>T	X.37:g.101911737G>T	ENSP00000355146:p.Gly966Trp					GPRASP1_uc004eji.3_Missense_Mutation_p.G966W|GPRASP1_uc010nod.2_Missense_Mutation_p.G966W	p.G966W	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3697	+			966			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2896G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	8.467	0.856624	0.17106	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	2.82	0.983	0.19767	.	.	.	.	.	T	0.17534	0.0421	L	0.48642	1.525	0.09310	N	0.999999	D	0.64830	0.994	P	0.57244	0.816	T	0.10917	-1.0609	9	0.72032	D	0.01	-0.639	6.5321	0.22332	0.2764:0.0:0.7236:0.0	.	966	Q5JY77	GASP1_HUMAN	W	966	ENSP00000393691:G966W;ENSP00000409420:G966W;ENSP00000355146:G966W;ENSP00000445683:G966W	ENSP00000355146:G966W	G	+	1	0	GPRASP1	101798393	0.003000	0.15002	0.016000	0.15963	0.040000	0.13550	0.091000	0.15046	0.141000	0.18875	0.436000	0.28706	GGG		0.473	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		15	56	1	0	5.3912e-06	0.006122	6.25137e-06	15	56				
GPRASP1	9737	broad.mit.edu	37	X	101911813	101911813	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101911813C>G	ENST00000361600.5	+	5	3773	c.2972C>G	c.(2971-2973)tCc>tGc	p.S991C	GPRASP1_ENST00000537097.1_Missense_Mutation_p.S991C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S991C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S991C|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	991	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACTGTGGGTCCAGGACATTA	0.517																																							uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(2971-2973)TCC>TGC		G protein-coupled receptor associated sorting							151.0	130.0	137.0					X																	101911813		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911813C>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2972C>G	X.37:g.101911813C>G	ENSP00000355146:p.Ser991Cys					GPRASP1_uc004eji.3_Missense_Mutation_p.S991C|GPRASP1_uc010nod.2_Missense_Mutation_p.S991C	p.S991C	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3773	+			991			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2972C>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	6.029	0.373784	0.11409	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	2.81	-3.43	0.04810	.	.	.	.	.	T	0.05502	0.0145	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38929	-0.9638	9	0.54805	T	0.06	0.2394	0.7897	0.01055	0.4461:0.1911:0.146:0.2169	.	991	Q5JY77	GASP1_HUMAN	C	991	ENSP00000393691:S991C;ENSP00000409420:S991C;ENSP00000355146:S991C;ENSP00000445683:S991C	ENSP00000355146:S991C	S	+	2	0	GPRASP1	101798469	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.599000	0.05700	-1.068000	0.03156	-0.587000	0.04127	TCC		0.517	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		13	73	0	0	0	0.00245	0	13	73				
MORF4L2	9643	broad.mit.edu	37	X	102931962	102931962	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:102931962C>A	ENST00000441076.2	-	0	298				MORF4L2_ENST00000433176.2_De_novo_Start_OutOfFrame|MORF4L2_ENST00000423833.2_De_novo_Start_OutOfFrame|MORF4L2_ENST00000451301.1_De_novo_Start_OutOfFrame|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_De_novo_Start_OutOfFrame|MORF4L2_ENST00000360458.1_De_novo_Start_OutOfFrame	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TCATTCAACCCTGTTTTTATT	0.368																																							uc004ekw.2		NA																	0					0						c.(-8--4)CAGGG>CATGG		mortality factor 4 like 2							75.0	80.0	78.0					X																	102931962		2201	4293	6494			9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931962C>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.-7G>T	X.37:g.102931962C>A						MORF4L2_uc004ela.2_Translation_Start_Site|MORF4L2_uc004ekx.2_Translation_Start_Site|MORF4L2_uc004elb.2_Translation_Start_Site|MORF4L2_uc004eky.2_Translation_Start_Site|MORF4L2_uc010nos.2_Translation_Start_Site|MORF4L2_uc004ekz.2_Translation_Start_Site|MORF4L2_uc011mry.1_Translation_Start_Site|MORF4L2_uc011mrz.1_Translation_Start_Site|MORF4L2_uc004elc.2_Translation_Start_Site|MORF4L2_uc004elf.2_Translation_Start_Site|MORF4L2_uc004ele.2_Translation_Start_Site|MORF4L2_uc011msa.1_Translation_Start_Site|MORF4L2_uc011msb.1_Translation_Start_Site|MORF4L2_uc011msc.1_Translation_Start_Site|MORF4L2_uc011msd.1_Translation_Start_Site|MORF4L2_uc004eld.2_Translation_Start_Site		NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1226	-								B3KP92|D3DXA5|Q567V0|Q8J026	Translation_Start_Site	SNP	ENST00000441076.2	37	c.-6G>T	CCDS14512.1																																																																																				0.368	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		14	57	1	0	2.23348e-06	0.004007	2.62523e-06	14	57				
PLP1	5354	broad.mit.edu	37	X	103041545	103041545	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:103041545G>A	ENST00000303958.2	+	3	489	c.343G>A	c.(343-345)Gca>Aca	p.A115T	PLP1_ENST00000418604.1_Missense_Mutation_p.A115T|PLP1_ENST00000361621.2_Missense_Mutation_p.A115T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	115					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGGCCTGAGCGCAACGGTAAC	0.582																																							uc010nov.2		NA																	0				ovary(1)	1						c.(343-345)GCA>ACA		proteolipid protein 1 isoform 1							118.0	104.0	109.0					X																	103041545		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041545G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.343G>A	X.37:g.103041545G>A	ENSP00000305152:p.Ala115Thr					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.A115T|PLP1_uc004elj.2_Missense_Mutation_p.A115T|PLP1_uc011msf.1_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.2_Missense_Mutation_p.A69T	p.A115T	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	623	+			115			Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.343G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478890	0.63849	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000418604;ENST00000303958;ENST00000361621	D;D;D;D;D;D;D	0.99445	-5.56;-5.56;-5.56;-5.56;-5.91;-5.91;-5.56	5.78	5.78	0.91487	.	0.390705	0.30869	N	0.008707	D	0.98614	0.9536	L	0.39397	1.21	0.33890	D	0.637175	D;P;P;P;B	0.63046	0.992;0.944;0.94;0.944;0.006	P;B;P;B;B	0.52856	0.711;0.403;0.525;0.403;0.009	D	0.99961	1.1724	10	0.56958	D	0.05	-18.7842	11.2825	0.49203	0.0:0.0:0.8182:0.1818	.	60;115;115;115;115	B4DI30;A8K9L3;B1B1G6;P60201;P60201-2	.;.;.;MYPR_HUMAN;.	T	115	ENSP00000403335:A115T;ENSP00000399913:A115T;ENSP00000409802:A115T;ENSP00000413931:A115T;ENSP00000405750:A115T;ENSP00000305152:A115T;ENSP00000354860:A115T	ENSP00000305152:A115T	A	+	1	0	PLP1	102928201	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	4.285000	0.58989	2.417000	0.82017	0.600000	0.82982	GCA		0.582	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			42	93	0	0	0	0.006999	0	42	93				
PLP1	5354	broad.mit.edu	37	X	103041617	103041617	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:103041617T>A	ENST00000303958.2	+	3	561	c.415T>A	c.(415-417)Tgt>Agt	p.C139S	PLP1_ENST00000418604.1_Missense_Mutation_p.C139S|PLP1_ENST00000361621.2_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	139			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGAGCGGGTGTGTCATTGTTT	0.557																																							uc010nov.2		NA																	0				ovary(1)	1						c.(415-417)TGT>AGT		proteolipid protein 1 isoform 1							147.0	125.0	133.0					X																	103041617		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041617T>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.415T>A	X.37:g.103041617T>A	ENSP00000305152:p.Cys139Ser					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.C139S|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.C84S|PLP1_uc010now.1_Missense_Mutation_p.C143S|PLP1_uc010nox.2_Missense_Mutation_p.C93S	p.C139S	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	695	+			139		Missing (in HLD1).	Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.415T>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675025	0.67928	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000428755	D;D	0.99388	-5.81;-5.81	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	L	0.47716	1.5	0.52501	D	0.999953	D;P;P	0.62365	0.991;0.91;0.91	D;D;D	0.76071	0.987;0.966;0.966	D	0.99285	1.0897	10	0.45353	T	0.12	-23.3503	12.441	0.55625	0.0:0.0:0.0:1.0	.	84;139;139	B4DI30;A8K9L3;P60201	.;.;MYPR_HUMAN	S	139;139;117	ENSP00000405750:C139S;ENSP00000305152:C139S	ENSP00000305152:C139S	C	+	1	0	PLP1	102928273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	1.843000	0.53566	0.486000	0.48141	TGT		0.557	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			58	139	0	0	0	0.01441	0	58	139				
RNF128	79589	broad.mit.edu	37	X	105970235	105970235	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:105970235C>G	ENST00000255499.2	+	1	342	c.92C>G	c.(91-93)cCg>cGg	p.P31R	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	31					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCCCTGAGTCCGCAGGCACCC	0.706																																							uc004eml.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(91-93)CCG>CGG		ring finger protein 128 isoform 1							12.0	11.0	11.0					X																	105970235		2187	4269	6456	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970235C>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.92C>G	X.37:g.105970235C>G	ENSP00000255499:p.Pro31Arg					RNF128_uc004emk.2_Intron	p.P31R	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			1	342	+			31					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.92C>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	c	4.975	0.181171	0.09443	.	.	ENSG00000133135	ENST00000255499	T	0.11495	2.77	4.61	4.61	0.57282	.	0.843286	0.10495	N	0.667991	T	0.11623	0.0283	N	0.03608	-0.345	0.26124	N	0.980519	D	0.64830	0.994	P	0.60682	0.878	T	0.42464	-0.9450	10	0.25106	T	0.35	.	12.2433	0.54555	0.0:1.0:0.0:0.0	.	31	Q8TEB7	RN128_HUMAN	R	31	ENSP00000255499:P31R	ENSP00000255499:P31R	P	+	2	0	RNF128	105856891	0.218000	0.23608	0.688000	0.30117	0.147000	0.21601	1.638000	0.37165	2.024000	0.59613	0.509000	0.49947	CCG		0.706	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		3	17	0	0	0	0.009096	0	3	17				
TSC22D3	1831	broad.mit.edu	37	X	106959973	106959973	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:106959973G>T	ENST00000372397.2	-	1	392	c.69C>A	c.(67-69)tcC>tcA	p.S23S	TSC22D3_ENST00000372383.4_Intron|TSC22D3_ENST00000506081.1_Intron|TSC22D3_ENST00000372382.4_Intron|TSC22D3_ENST00000372384.2_Intron|TSC22D3_ENST00000372390.4_5'Flank|TSC22D3_ENST00000315660.4_Intron|TSC22D3_ENST00000514426.1_Intron	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	23	AP1-binding. {ECO:0000250}.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						AAGAGAAGAAGGAGATGGAGA	0.612																																							uc004eng.2		NA																	0					0						c.(67-69)TCC>TCA		TSC22 domain family, member 3 isoform 2							80.0	77.0	78.0					X																	106959973		2203	4300	6503	SO:0001819	synonymous_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:106959973G>T	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.69C>A	X.37:g.106959973G>T						TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	p.S23S	NM_004089	NP_004080	Q99576	T22D3_HUMAN			1	319	-			23			AP1-binding (By similarity).		Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Silent	SNP	ENST00000372397.2	37	c.69C>A	CCDS14531.1																																																																																				0.612	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		35	72	1	0	2.05212e-20	0.005524	3.41578e-20	35	72				
ALG13	79868	broad.mit.edu	37	X	110951467	110951467	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:110951467C>A	ENST00000394780.3	+	4	608	c.596C>A	c.(595-597)cCc>cAc	p.P199H	ALG13_ENST00000251943.4_Missense_Mutation_p.P95H|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	199	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCTCTTACCCCCACCCTGTAC	0.468																																							uc011msy.1		NA																	0				lung(1)	1						c.(595-597)CCC>CAC		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							107.0	91.0	96.0					X																	110951467		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951467C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.596C>A	X.37:g.110951467C>A	ENSP00000378260:p.Pro199His					ALG13_uc011msw.1_Missense_Mutation_p.P121H|ALG13_uc011msx.1_Missense_Mutation_p.P95H|ALG13_uc011msz.1_Missense_Mutation_p.P121H|ALG13_uc011mta.1_Missense_Mutation_p.P95H|ALG13_uc011mtb.1_Missense_Mutation_p.P95H	p.P199H			Q9NP73	ALG13_HUMAN			4	630	+			199					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.596C>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271231	0.10349	.	.	ENSG00000101901	ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T	0.80214	1.53;-1.35;0.55;1.52	5.15	-3.97	0.04094	.	.	.	.	.	T	0.57154	0.2034	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.42899	-0.9424	9	0.87932	D	0	.	4.4563	0.11645	0.2232:0.5228:0.087:0.167	.	121;199;95	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	H	95;199;199;95	ENSP00000251943:P95H;ENSP00000426892:P199H;ENSP00000378260:P199H;ENSP00000427093:P95H	ENSP00000251943:P95H	P	+	2	0	ALG13	110838123	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.209000	0.17435	-0.921000	0.03794	0.600000	0.82982	CCC		0.468	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		11	31	1	0	1.08611e-07	0.010729	1.3249e-07	11	31				
UPF3B	65109	broad.mit.edu	37	X	118972440	118972440	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:118972440T>A	ENST00000276201.2	-	9	966	c.897A>T	c.(895-897)gaA>gaT	p.E299D	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.E286D	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	299	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTTGGCTTTTTCTCTTTTGT	0.363																																							uc004erz.1		NA																	0				ovary(2)|kidney(1)	3						c.(895-897)GAA>GAT		UPF3 regulator of nonsense transcripts homolog B							193.0	168.0	176.0					X																	118972440		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118972440T>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.897A>T	X.37:g.118972440T>A	ENSP00000276201:p.Glu299Asp					UPF3B_uc004esa.1_Missense_Mutation_p.E286D	p.E299D	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			9	974	-			299			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.897A>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420236	0.42918	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79033	-1.23;-1.19	5.61	-1.08	0.09936	.	0.435785	0.27906	N	0.017367	T	0.59088	0.2168	L	0.39898	1.24	0.38335	D	0.943909	B;B	0.13145	0.003;0.007	B;B	0.10450	0.004;0.005	T	0.32268	-0.9913	10	0.33940	T	0.23	.	0.3997	0.00423	0.2496:0.1521:0.2631:0.3352	.	286;299	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	D	299;286	ENSP00000276201:E299D;ENSP00000245418:E286D	ENSP00000276201:E299D	E	-	3	2	UPF3B	118856468	0.905000	0.30787	0.337000	0.25536	0.988000	0.76386	-0.363000	0.07593	-0.601000	0.05783	0.427000	0.28365	GAA		0.363	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			11	53	0	0	0	0.010729	0	11	53				
UPF3B	65109	broad.mit.edu	37	X	118974609	118974609	+	Splice_Site	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:118974609A>G	ENST00000276201.2	-	8	915	c.846T>C	c.(844-846)aaT>aaC	p.N282N	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Intron	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	282	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TGGTCCTTACATTTTTCTGAT	0.388																																							uc004erz.1		NA																	0				ovary(2)|kidney(1)	3						c.(844-846)AAT>AAC		UPF3 regulator of nonsense transcripts homolog B							150.0	100.0	117.0					X																	118974609		2203	4300	6503	SO:0001630	splice_region_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118974609A>G	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.846+1T>C	X.37:g.118974609A>G						UPF3B_uc004esa.1_Intron	p.N282N	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			8	923	-			282			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	c.846T>C	CCDS14588.1																																																																																				0.388	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		Silent	7	23	0	0	0	0.004482	0	7	23				
OCRL	4952	broad.mit.edu	37	X	128709136	128709136	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:128709136G>A	ENST00000371113.4	+	16	1787	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	OCRL_ENST00000357121.5_Missense_Mutation_p.R541Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	541	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGGATGAACGAAGGTACCGG	0.408																																							uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.(1621-1623)CGA>CAA		phosphatidylinositol polyphosphate 5-phosphatase							215.0	175.0	189.0					X																	128709136		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709136G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1622G>A	X.37:g.128709136G>A	ENSP00000360154:p.Arg541Gln					OCRL_uc004eur.2_Missense_Mutation_p.R541Q	p.R541Q	NM_000276	NP_000267	Q01968	OCRL_HUMAN			16	1787	+			541					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1622G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687435	0.29962	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95035	-3.59;-3.59	5.89	5.0	0.66597	Endonuclease/exonuclease/phosphatase (1);	0.324485	0.34025	N	0.004331	D	0.84147	0.5408	N	0.04090	-0.28	0.33386	D	0.57543	B;B	0.16396	0.017;0.004	B;B	0.06405	0.002;0.0	T	0.80434	-0.1384	10	0.20046	T	0.44	.	8.321	0.32130	0.0831:0.0:0.7591:0.1577	.	541;541	Q01968-2;Q01968	.;OCRL_HUMAN	Q	541	ENSP00000360154:R541Q;ENSP00000349635:R541Q	ENSP00000349635:R541Q	R	+	2	0	OCRL	128536817	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.548000	0.36201	1.173000	0.42796	0.544000	0.68410	CGA		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		31	48	0	0	0	0.005524	0	31	48				
XPNPEP2	7512	broad.mit.edu	37	X	128901599	128901599	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:128901599C>A	ENST00000371106.3	+	20	1953	c.1761C>A	c.(1759-1761)acC>acA	p.T587T		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	587						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCTACCTGACCTTTGAAGTGG	0.572																																							uc004eut.1		NA																	0					0						c.(1759-1761)ACC>ACA		X-prolyl aminopeptidase 2, membrane-bound							225.0	152.0	176.0					X																	128901599		2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128901599C>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1761C>A	X.37:g.128901599C>A							p.T587T	NM_003399	NP_003390	O43895	XPP2_HUMAN			20	2005	+			587					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1761C>A	CCDS14613.1																																																																																				0.572	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		34	88	1	0	8.69298e-16	0.006999	1.35108e-15	34	88				
BCORL1	63035	broad.mit.edu	37	X	129146954	129146954	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129146954G>T	ENST00000218147.7	+	4	403	c.206G>T	c.(205-207)aGc>aTc	p.S69I	BCORL1_ENST00000540052.1_Missense_Mutation_p.S69I|BCORL1_ENST00000303743.5_Missense_Mutation_p.S69I|BCORL1_ENST00000359304.2_Missense_Mutation_p.S69I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	69					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAAGTGGCAGCAATGCCCGG	0.572																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(205-207)AGC>ATC		BCL6 co-repressor-like 1							68.0	70.0	69.0					X																	129146954		2191	4271	6462	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146954G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.206G>T	X.37:g.129146954G>T	ENSP00000218147:p.Ser69Ile					BCORL1_uc010nrd.1_5'UTR	p.S69I	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	320	+			69					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.206G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911773	0.33721	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.55588	0.53;0.89;0.51;0.53	5.28	2.46	0.29980	.	0.000000	0.42053	D	0.000780	T	0.33147	0.0853	N	0.19112	0.55	0.27276	N	0.958225	B	0.06786	0.001	B	0.10450	0.005	T	0.16247	-1.0409	10	0.33940	T	0.23	-3.3563	7.674	0.28476	0.1472:0.0:0.7204:0.1324	.	69	Q5H9F3	BCORL_HUMAN	I	69	ENSP00000218147:S69I;ENSP00000307541:S69I;ENSP00000352253:S69I;ENSP00000437775:S69I	ENSP00000218147:S69I	S	+	2	0	BCORL1	128974635	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	3.706000	0.54830	0.072000	0.16694	-0.297000	0.09499	AGC		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		44	163	1	0	3.31993e-32	0.01441	5.86672e-32	44	163				
BCORL1	63035	broad.mit.edu	37	X	129149417	129149417	+	Missense_Mutation	SNP	G	G	A	rs201843717		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129149417G>A	ENST00000218147.7	+	4	2866	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	BCORL1_ENST00000540052.1_Missense_Mutation_p.R890Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R890Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.R890Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	890					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGCAACCACGGCCTGGGGGC	0.577													G|||	3	0.000794702	0.0008	0.0	3775	,	,		13478	0.002		0.0	False		,,,				2504	0.0						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2668-2670)CGG>CAG		BCL6 co-repressor-like 1		G	GLN/ARG	0,3835		0,0,1632,571	47.0	44.0	45.0		2669	5.3	1.0	X		45	2,6726		0,2,2426,1872	yes	missense	BCORL1	NM_021946.4	43	0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging	890/1712	129149417	2,10561	2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149417G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2669G>A	X.37:g.129149417G>A	ENSP00000218147:p.Arg890Gln					BCORL1_uc010nrd.1_Missense_Mutation_p.R792Q	p.R890Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2783	+			890					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2669G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130874	0.56828	0.0	2.97E-4	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.47869	0.85;1.22;0.83;0.85;1.3	5.31	5.31	0.75309	.	0.000000	0.33327	N	0.005038	T	0.51227	0.1662	N	0.24115	0.695	0.24607	N	0.993743	D;D	0.89917	0.999;1.0	D;P	0.77557	0.99;0.859	T	0.43343	-0.9397	10	0.38643	T	0.18	-15.567	10.2731	0.43493	0.0935:0.0:0.9065:0.0	.	890;890	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Q	890;890;890;890;490	ENSP00000218147:R890Q;ENSP00000307541:R890Q;ENSP00000352253:R890Q;ENSP00000437775:R890Q;ENSP00000399483:R490Q	ENSP00000218147:R890Q	R	+	2	0	BCORL1	128977098	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	4.592000	0.61027	2.215000	0.71742	0.529000	0.55759	CGG		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		14	52	0	0	0	0.00245	0	14	52				
AIFM1	9131	broad.mit.edu	37	X	129281502	129281502	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129281502G>T	ENST00000287295.3	-	5	801	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.L187M|AIFM1_ENST00000535724.1_Missense_Mutation_p.L104M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	191	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TTGAATCGCAGTGTCTTTGTG	0.413																																							uc004evg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(571-573)CTG>ATG		programmed cell death 8 isoform 1							149.0	129.0	136.0					X																	129281502		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129281502G>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.571C>A	X.37:g.129281502G>T	ENSP00000287295:p.Leu191Met					AIFM1_uc011mus.1_Missense_Mutation_p.L191M|AIFM1_uc004evh.2_Missense_Mutation_p.L187M|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.L191M	NM_004208	NP_004199	O95831	AIFM1_HUMAN			5	749	-			191			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.571C>A	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285841	0.59867	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.49139	0.79;0.79;0.79	4.84	3.0	0.34707	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.066878	0.64402	D	0.000008	T	0.66157	0.2761	M	0.81682	2.555	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.986;0.992	T	0.66040	-0.6022	10	0.66056	D	0.02	-5.9809	9.3622	0.38203	0.2585:0.0:0.7415:0.0	.	191;187;191	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	M	187;104;191	ENSP00000315122:L187M;ENSP00000446113:L104M;ENSP00000287295:L191M	ENSP00000287295:L191M	L	-	1	2	AIFM1	129109183	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	3.068000	0.50018	0.421000	0.25980	0.544000	0.68410	CTG		0.413	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			18	72	1	0	9.7654e-05	0.007413	0.000108364	18	72				
TFDP3	51270	broad.mit.edu	37	X	132351379	132351379	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:132351379C>T	ENST00000310125.4	-	1	997	c.909G>A	c.(907-909)ggG>ggA	p.G303G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	303	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGGACTCTAGCCCAAAAGTCA	0.483																																							uc004exb.1		NA																	0				ovary(1)	1						c.(907-909)GGG>GGA		transcription factor Dp family, member 3							72.0	73.0	73.0					X																	132351379		2202	4300	6502	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351379C>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.909G>A	X.37:g.132351379C>T							p.G303G	NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN			1	998	-	Acute lymphoblastic leukemia(192;0.000127)		303			Involved in negatively regulating E2F activity.|DCB2 (By similarity).		Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.909G>A	CCDS14636.2																																																																																				0.483	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		17	49	0	0	0	0.00499	0	17	49				
ZIC3	7547	broad.mit.edu	37	X	136649358	136649358	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:136649358G>C	ENST00000287538.5	+	1	1058	c.508G>C	c.(508-510)Gct>Cct	p.A170P	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.A170P	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	170					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TGAGCAGGGCGCTGGGCACCC	0.697																																							uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(508-510)GCT>CCT		zinc finger protein of the cerebellum 3							25.0	27.0	27.0					X																	136649358		2166	4224	6390	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649358G>C	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.508G>C	X.37:g.136649358G>C	ENSP00000287538:p.Ala170Pro						p.A170P	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1013	+	Acute lymphoblastic leukemia(192;0.000127)		170					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.508G>C	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.351065	0.24512	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.37752	1.18;1.18	4.68	2.82	0.32997	.	0.289012	0.33610	N	0.004730	T	0.16471	0.0396	N	0.16656	0.425	0.33723	D	0.617288	B	0.02656	0.0	B	0.06405	0.002	T	0.10753	-1.0616	10	0.19147	T	0.46	.	2.4051	0.04411	0.1149:0.2564:0.4687:0.16	.	170	O60481	ZIC3_HUMAN	P	170	ENSP00000287538:A170P;ENSP00000359638:A170P	ENSP00000287538:A170P	A	+	1	0	ZIC3	136477024	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.724000	0.38064	0.972000	0.38314	0.597000	0.82753	GCT		0.697	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			13	44	0	0	0	0.00245	0	13	44				
ATP11C	286410	broad.mit.edu	37	X	138878530	138878530	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:138878530C>A	ENST00000327569.3	-	12	1215	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	ATP11C_ENST00000359686.2_Missense_Mutation_p.G373C|ATP11C_ENST00000370543.1_Missense_Mutation_p.G373C|ATP11C_ENST00000370557.1_Missense_Mutation_p.G370C|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G373C	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	373					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)					AAGAAGGAGCCCAAGAATTTC	0.378																																							uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(1117-1119)GGC>TGC		ATPase, class VI, type 11C isoform a							65.0	59.0	61.0					X																	138878530		2203	4300	6503	SO:0001583	missense	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:138878530C>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.1117G>T	X.37:g.138878530C>A	ENSP00000332756:p.Gly373Cys					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G373C	p.G373C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			12	1216	-	Acute lymphoblastic leukemia(192;0.000127)		373			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1117G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523956	0.85600	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	5.88	5.88	0.94601	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97612	1.0130	10	0.72032	D	0.01	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	373;373	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	C	370;373;373;373;373	ENSP00000359588:G370C;ENSP00000355165:G373C;ENSP00000332756:G373C;ENSP00000359574:G373C;ENSP00000352715:G373C	ENSP00000332756:G373C	G	-	1	0	ATP11C	138706196	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.818000	0.86416	2.471000	0.83476	0.600000	0.82982	GGC		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		15	27	1	0	1.5739e-10	0.004007	2.13719e-10	15	27				
MTM1	4534	broad.mit.edu	37	X	149761086	149761086	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:149761086G>T	ENST00000370396.2	+	2	64	c.10G>T	c.(10-12)Gca>Tca	p.A4S	MTM1_ENST00000413012.2_Missense_Mutation_p.A4S|MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	4					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCTTCTGCATCAACTTC	0.328																																							uc004fef.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(10-12)GCA>TCA		myotubularin							159.0	143.0	148.0					X																	149761086		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149761086G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.10G>T	X.37:g.149761086G>T	ENSP00000359423:p.Ala4Ser					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.A4S|MTM1_uc011mxz.1_5'UTR|MTM1_uc010nte.2_5'UTR	p.A4S	NM_000252	NP_000243	Q13496	MTM1_HUMAN			2	86	+	Acute lymphoblastic leukemia(192;6.56e-05)		4					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.10G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898286	0.33535	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.95980	-3.87;-3.53;-3.85	5.73	5.73	0.89815	.	0.725509	0.13402	N	0.390525	D	0.89770	0.6811	N	0.19112	0.55	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.17722	0.019;0.019	D	0.83896	0.0287	10	0.33141	T	0.24	.	6.8102	0.23801	0.0896:0.0:0.7337:0.1766	.	4;4	B7Z491;Q13496	.;MTM1_HUMAN	S	4	ENSP00000359423:A4S;ENSP00000400699:A4S;ENSP00000389157:A4S	ENSP00000359423:A4S	A	+	1	0	MTM1	149511744	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.069000	0.50026	2.409000	0.81822	0.594000	0.82650	GCA		0.328	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		21	44	1	0	7.92952e-12	0.003954	1.12408e-11	21	44				
MTM1	4534	broad.mit.edu	37	X	149809819	149809819	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:149809819G>C	ENST00000370396.2	+	8	660	c.606G>C	c.(604-606)ttG>ttC	p.L202F	MTM1_ENST00000413012.2_Missense_Mutation_p.L165F|MTM1_ENST00000542741.1_Missense_Mutation_p.L107F|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.L87F	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	202	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		L -> S (in CNMX; severe). {ECO:0000269|PubMed:12522554}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.L202F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTCTTTTGGTGGTTCCGT	0.428																																							uc004fef.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(604-606)TTG>TTC		myotubularin							181.0	162.0	168.0					X																	149809819		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809819G>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.606G>C	X.37:g.149809819G>C	ENSP00000359423:p.Leu202Phe					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.L165F|MTM1_uc011mxz.1_Missense_Mutation_p.L87F|MTM1_uc010nte.2_Missense_Mutation_p.L70F	p.L202F	NM_000252	NP_000243	Q13496	MTM1_HUMAN			8	682	+	Acute lymphoblastic leukemia(192;6.56e-05)		202		L -> S (in XCNM; severe).	Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.606G>C	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083533	0.36758	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.43	4.55	0.56014	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.068882	0.52532	D	0.000067	D	0.94391	0.8196	M	0.71871	2.18	0.38019	D	0.934774	B;B	0.31383	0.195;0.321	B;B	0.41510	0.261;0.359	D	0.93617	0.6944	10	0.40728	T	0.16	.	11.848	0.52395	0.0:0.1291:0.734:0.1369	.	165;202	B7Z491;Q13496	.;MTM1_HUMAN	F	202;107;87;165	ENSP00000359423:L202F;ENSP00000444015:L107F;ENSP00000439784:L87F;ENSP00000389157:L165F	ENSP00000359423:L202F	L	+	3	2	MTM1	149560477	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	1.061000	0.30542	1.165000	0.42670	0.523000	0.50628	TTG		0.428	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		33	71	0	0	0	0.00623	0	33	71				
VMA21	203547	broad.mit.edu	37	X	150572114	150572114	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:150572114C>T	ENST00000330374.6	+	2	170	c.65C>T	c.(64-66)tCa>tTa	p.S22L	VMA21_ENST00000370361.1_Missense_Mutation_p.S77L|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						AATGAAAGCTCATTAGCATCT	0.353																																							uc004feu.2		NA																	0					0						c.(64-66)TCA>TTA		VMA21 vacuolar H+-ATPase homolog							194.0	187.0	189.0					X																	150572114		2203	4300	6503	SO:0001583	missense	203547				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome		g.chrX:150572114C>T	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.65C>T	X.37:g.150572114C>T	ENSP00000333255:p.Ser22Leu						p.S22L	NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN			2	141	+			22						Missense_Mutation	SNP	ENST00000330374.6	37	c.65C>T	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	c	32	5.129795	0.94473	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	L	0.32530	0.975	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.68880	-0.5292	9	0.66056	D	0.02	-8.9588	16.3955	0.83604	0.0:1.0:0.0:0.0	.	22	Q3ZAQ7	VMA21_HUMAN	L	77;22	.	ENSP00000333255:S22L	S	+	2	0	VMA21	150322772	1.000000	0.71417	0.764000	0.31436	0.989000	0.77384	7.768000	0.85345	2.478000	0.83669	0.594000	0.82650	TCA		0.353	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		24	84	0	0	0	0.003954	0	24	84				
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:152937358C>A	ENST00000370150.1	-	5	569	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.G131W|PNCK_ENST00000370145.4_Missense_Mutation_p.G148W|PNCK_ENST00000447676.2_Missense_Mutation_p.G214W|PNCK_ENST00000370142.1_Missense_Mutation_p.G131W|PNCK_ENST00000393831.2_Missense_Mutation_p.G131W			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662																																							uc011myu.1		NA																	0				breast(1)	1						c.(640-642)GGG>TGG		pregnancy upregulated non-ubiquitously expressed							25.0	24.0	25.0					X																	152937358		2202	4296	6498	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937358C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.391G>T	X.37:g.152937358C>A	ENSP00000359169:p.Gly131Trp					PNCK_uc011myt.1_Missense_Mutation_p.G148W|PNCK_uc004fia.2_Missense_Mutation_p.G143W|PNCK_uc004fhz.3_Missense_Mutation_p.G29W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G158W|PNCK_uc011myw.1_Missense_Mutation_p.G158W	p.G214W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			5	826	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		131			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.640G>T		.	.	.	.	.	.	.	.	.	.	c	21.0	4.077704	0.76528	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.65450	0.2692	M	0.92268	3.29	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;0.999;0.999;0.999	T	0.75977	-0.3127	10	0.87932	D	0	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	W	131;131;131;131;148;214;131;131	ENSP00000340586:G131W;ENSP00000359169:G131W;ENSP00000377417:G131W;ENSP00000359161:G131W;ENSP00000359164:G148W;ENSP00000405950:G214W;ENSP00000415770:G131W;ENSP00000391772:G131W	ENSP00000340586:G131W	G	-	1	0	PNCK	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		10	23	1	0	2.74318e-10	0.006214	3.70545e-10	10	23				
SLC6A8	6535	broad.mit.edu	37	X	152957557	152957557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:152957557G>T	ENST00000253122.5	+	4	1248	c.772G>T	c.(772-774)Gga>Tga	p.G258*	SLC6A8_ENST00000430077.2_Nonsense_Mutation_p.G143*	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	258					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAAATCCACGGGAAAGGTACC	0.627																																							uc004fib.3		NA																	0				pancreas(1)	1						c.(772-774)GGA>TGA		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						49.0	33.0	38.0					X																	152957557		2202	4299	6501	SO:0001587	stop_gained	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152957557G>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.772G>T	X.37:g.152957557G>T	ENSP00000253122:p.Gly258*					SLC6A8_uc004fic.3_Nonsense_Mutation_p.G258*|SLC6A8_uc011myx.1_Nonsense_Mutation_p.G143*|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Nonsense_Mutation_p.G143*	p.G258*	NM_005629	NP_005620	P48029	SC6A8_HUMAN			4	1050	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		258			Cytoplasmic (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Nonsense_Mutation	SNP	ENST00000253122.5	37	c.772G>T	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	37|37	6.016538|6.016538	0.97205|0.97205	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000429147|ENST00000253122;ENST00000430077	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	.|.	.|.	.|.	.|.	T|.	0.69672|.	0.3137|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80077|.	-0.1533|.	3|.	.|0.87932	.|D	.|0	.|.	14.3631|14.3631	0.66787|0.66787	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	74|258;143	.|.	.|ENSP00000253122:G258X	G|G	+|+	2|1	0|0	SLC6A8|SLC6A8	152610751|152610751	1.000000|1.000000	0.71417|0.71417	0.708000|0.708000	0.30435|0.30435	0.722000|0.722000	0.41435|0.41435	9.590000|9.590000	0.98238|0.98238	1.878000|1.878000	0.54408|0.54408	0.529000|0.529000	0.55759|0.55759	GGG|GGA		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			3	12	1	0	1.024e-07	0.000602	1.26408e-07	3	12				
TMEM187	8269	broad.mit.edu	37	X	153247965	153247965	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:153247965C>A	ENST00000369982.4	+	2	1199	c.452C>A	c.(451-453)gCc>gAc	p.A151D	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	151						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCCTGGCCAGTTATGGC	0.672																																							uc004fjq.2		NA																	0					0						c.(451-453)GCC>GAC		transmembrane protein 187							39.0	29.0	33.0					X																	153247965		2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247965C>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.452C>A	X.37:g.153247965C>A	ENSP00000358999:p.Ala151Asp					hsa-mir-3202-2|MI0014253_5'Flank	p.A151D	NM_003492	NP_003483	Q14656	TM187_HUMAN			2	986	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		151			Helical; (Potential).		B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.452C>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640652	0.14386	.	.	ENSG00000177854	ENST00000369982	T	0.24538	1.85	4.65	0.597	0.17504	.	1.580660	0.04790	U	0.431576	T	0.21921	0.0528	L	0.34521	1.04	0.09310	N	0.999994	P	0.39157	0.662	B	0.40009	0.316	T	0.23726	-1.0180	10	0.33940	T	0.23	.	6.9986	0.24797	0.0:0.5563:0.1588:0.2849	.	151	Q14656	TM187_HUMAN	D	151	ENSP00000358999:A151D	ENSP00000358999:A151D	A	+	2	0	TMEM187	152901159	0.006000	0.16342	0.118000	0.21660	0.067000	0.16453	0.038000	0.13862	-0.337000	0.08426	0.436000	0.28706	GCC		0.672	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		6	21	1	0	2.0095e-06	0.001984	2.36735e-06	6	21				
TKTL1	8277	broad.mit.edu	37	X	153533764	153533764	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:153533764C>A	ENST00000369915.3	+	2	432	c.243C>A	c.(241-243)gtC>gtA	p.V81V	TKTL1_ENST00000217905.7_Silent_p.V25V|TKTL1_ENST00000369912.2_Silent_p.V25V	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	81					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCGATTTGTCCTCGCAAAGG	0.537																																							uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(241-243)GTC>GTA		transketolase-like 1 isoform a							132.0	91.0	105.0					X																	153533764		2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153533764C>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.243C>A	X.37:g.153533764C>A						TKTL1_uc011mzl.1_Silent_p.V75V|TKTL1_uc011mzm.1_Silent_p.V81V|TKTL1_uc004fkh.2_Silent_p.V25V	p.V81V	NM_012253	NP_036385	P51854	TKTL1_HUMAN			2	429	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		81					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.243C>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.022128	0.02061	.	.	ENSG00000007350	ENST00000426203	.	.	.	5.32	2.01	0.26516	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	-10.3186	1.4733	0.02421	0.1557:0.4242:0.1502:0.2698	.	.	.	.	T	64	.	.	P	+	1	0	TKTL1	153186958	0.003000	0.15002	0.006000	0.13384	0.007000	0.05969	-1.344000	0.02639	0.415000	0.25817	0.600000	0.82982	CCT		0.537	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		15	27	1	0	8.10497e-08	0.010504	1.00292e-07	15	27				
NTNG1	22854	broad.mit.edu	37	1	107691365	107691365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:107691365delC	ENST00000370068.1	+	2	996	c.150delC	c.(148-150)tgcfs	p.C50fs	NTNG1_ENST00000370073.2_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370061.3_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370067.1_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.C50fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.C50fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	50	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACATGGCCTGCCAGCCGGAAT	0.478																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(148-150)TGCfs		netrin G1 isoform 1							152.0	150.0	150.0					1																	107691365		2203	4300	6503	SO:0001589	frameshift_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691365delC	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.150delC	1.37:g.107691365delC	ENSP00000359085:p.Cys50fs					NTNG1_uc001dvf.3_Frame_Shift_Del_p.C50fs|NTNG1_uc010out.1_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvc.3_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvd.1_Frame_Shift_Del_p.C50fs	p.C50fs	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	868	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	50			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Frame_Shift_Del	DEL	ENST00000370068.1	37	c.150delC	CCDS44180.1																																																																																				0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		25	80	NA	NA	NA	NA	NA	25	80	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117120039	117120039	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:117120039delC	ENST00000369486.3	-	11	4245	c.3480delG	c.(3478-3480)gggfs	p.G1160fs	IGSF3_ENST00000318837.6_Frame_Shift_Del_p.G1180fs|IGSF3_ENST00000369483.1_Frame_Shift_Del_p.G1180fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1160					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCCCATTCTTCCCATCAGAGT	0.522																																							uc001egr.1		NA																	0				ovary(2)	2						c.(3478-3480)GGGfs		immunoglobulin superfamily, member 3 isoform 2							120.0	116.0	118.0					1																	117120039		2203	4300	6503	SO:0001589	frameshift_variant	3321					integral to membrane		g.chr1:117120039delC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3480delG	1.37:g.117120039delC	ENSP00000358498:p.Gly1160fs					IGSF3_uc001egq.1_Frame_Shift_Del_p.G1180fs	p.G1160fs	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	11	4185	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1160			Cytoplasmic (Potential).		A6NJZ6|A6NMC7	Frame_Shift_Del	DEL	ENST00000369486.3	37	c.3480delG	CCDS30813.1																																																																																				0.522	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		15	44	NA	NA	NA	NA	NA	15	44	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671416	152671416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152671416delT	ENST00000368779.1	+	2	90	c.39delT	c.(37-39)cctfs	p.P14fs		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	14	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCCCTCCCAAGTGCC	0.552																																							uc001faj.2		NA																	0					0						c.(37-39)CCTfs		late cornified envelope 2A							72.0	85.0	81.0					1																	152671416		2203	4300	6503	SO:0001589	frameshift_variant	353139				keratinization			g.chr1:152671416delT		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.39delT	1.37:g.152671416delT	ENSP00000357768:p.Pro14fs						p.P13fs	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	90	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		13			Cys-rich.		A4QMZ9	Frame_Shift_Del	DEL	ENST00000368779.1	37	c.39delT	CCDS1021.1																																																																																				0.552	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		67	228	NA	NA	NA	NA	NA	67	228	---	---	---	---
ST3GAL4	6484	broad.mit.edu	37	11	126278003	126278003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:126278003delC	ENST00000526727.1	+	6	725	c.351delC	c.(349-351)tgcfs	p.C117fs	ST3GAL4_ENST00000392669.2_Frame_Shift_Del_p.C117fs|ST3GAL4_ENST00000534457.1_Frame_Shift_Del_p.C112fs|ST3GAL4_ENST00000532243.1_Frame_Shift_Del_p.C116fs|ST3GAL4_ENST00000227495.6_Frame_Shift_Del_p.C113fs|ST3GAL4_ENST00000449406.2_Frame_Shift_Del_p.C106fs|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Frame_Shift_Del_p.C117fs|ST3GAL4_ENST00000444328.2_Frame_Shift_Del_p.C117fs|ST3GAL4_ENST00000356132.4_Frame_Shift_Del_p.C123fs|ST3GAL4_ENST00000530591.1_Frame_Shift_Del_p.C113fs			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	117					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCTCAGGTGCCGCCGCTGTG	0.597																																							uc001qds.2		NA																	0					0						c.(349-351)TGCfs		ST3 beta-galactoside alpha-2,3-sialyltransferase							71.0	72.0	72.0					11																	126278003		2201	4298	6499	SO:0001589	frameshift_variant	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278003delC	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.351delC	11.37:g.126278003delC	ENSP00000436047:p.Cys117fs					ST3GAL4_uc001qdt.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdu.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdv.2_Frame_Shift_Del_p.C117fs|ST3GAL4_uc009zce.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdw.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR	p.C117fs	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	7	570	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	117			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Frame_Shift_Del	DEL	ENST00000526727.1	37	c.351delC	CCDS58193.1																																																																																				0.597	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		19	40	NA	NA	NA	NA	NA	19	40	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94079174	94079175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:94079174_94079175insA	ENST00000393151.2	+	27	3786_3787	c.3786_3787insA	c.(3787-3789)aagfs	p.K1263fs	UNC79_ENST00000256339.4_Frame_Shift_Ins_p.K1086fs|UNC79_ENST00000553484.1_Frame_Shift_Ins_p.K1285fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.K1263fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1263					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACAACACCATCAAGGACCTGCT	0.49																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3319-3324)ATCAAGfs		hypothetical protein LOC57578																																				SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:94079174_94079175insA	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3788dupA	14.37:g.94079176_94079176dupA	ENSP00000376858:p.Lys1263fs					KIAA1409_uc001ybs.1_Frame_Shift_Ins_p.I1085fs	p.I1107fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	25	3404_3405	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1262_1263					B5MDL6|Q6ZUT7	Frame_Shift_Ins	INS	ENST00000393151.2	37	c.3321_3322insA																																																																																					0.490	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		11	54	NA	NA	NA	NA	NA	11	54	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219588	18219588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:18219588delA	ENST00000406438.3	+	1	965	c.485delA	c.(484-486)cagfs	p.Q162fs	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	162						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTGCAGACCAGCATAAAATC	0.522																																							uc002gsy.3		NA																	0				central_nervous_system(1)	1						c.(484-486)CAGfs		Smith-Magenis syndrome chromosome region,							55.0	58.0	57.0					17																	18219588		2203	4300	6503	SO:0001589	frameshift_variant	140775							g.chr17:18219588delA	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.485delA	17.37:g.18219588delA	ENSP00000385025:p.Gln162fs						p.Q162fs	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	995	+			162					A5PKZ5|Q3ZCN0|Q6PJL3	Frame_Shift_Del	DEL	ENST00000406438.3	37	c.485delA	CCDS11195.2																																																																																				0.522	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		16	15	NA	NA	NA	NA	NA	16	15	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60888854	60888854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:60888854delG	ENST00000252999.3	-	63	8575	c.8509delC	c.(8509-8511)ctcfs	p.L2837fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2837	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCAAACTGGAGAGTCCTGAGG	0.652																																							uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(8509-8511)CTCfs		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						69.0	52.0	58.0					20																	60888854		2203	4297	6500	SO:0001589	frameshift_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60888854delG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8509delC	20.37:g.60888854delG	ENSP00000252999:p.Leu2837fs						p.L2837fs	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		63	8576	-	Breast(26;1.57e-08)		2837			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	ENST00000252999.3	37	c.8509delC	CCDS33502.1																																																																																				0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		11	36	NA	NA	NA	NA	NA	11	36	---	---	---	---
GPR27	2850	broad.mit.edu	37	3	71803229	71803231	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GCG	GCG	-	-	GCG	GCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:71803229_71803231delGCG	ENST00000304411.2	+	1	29_31	c.29_31delGCG	c.(28-33)agcggc>agc	p.G13del	EIF4E3_ENST00000448225.1_Intron|EIF4E3_ENST00000421769.2_Intron|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	13					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCGGGTGGCAGCGGCGGCGGCGA	0.773																																							uc011bge.1		NA																	0				ovary(1)	1						c.(28-33)AGCGGC>AGC		G protein-coupled receptor 27			,,	7,1429		1,5,712					,,	-0.3	1.0			3	17,3859		6,5,1927	no	intron,coding,intron	GPR27,EIF4E3	NM_173359.4,NM_018971.1,NM_001134649.1	,,	7,10,2639	A1A1,A1R,RR		0.4386,0.4875,0.4518	,,	,,		24,5288				SO:0001651	inframe_deletion	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71803229_71803231delGCG	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.29_31delGCG	3.37:g.71803238_71803240delGCG	ENSP00000303149:p.Gly13del					EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	p.G13del	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	29_31	+		Prostate(10;0.00899)	13			Extracellular (Potential).			In_Frame_Del	DEL	ENST00000304411.2	37	c.29_31delGCG	CCDS2915.1																																																																																				0.773	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	0				ovary(1)	1						c.(1582-1587)AAACACfs		DNA polymerase sigma																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs					PAPD7_uc011cmn.1_Frame_Shift_Del_p.K518fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	p.K528fs	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528_529					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	95	NA	NA	NA	NA	NA	8	95	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48075920	48075921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:48075920_48075921insA	ENST00000348904.3	+	2	227_228	c.15_16insA	c.(16-18)aagfs	p.K6fs	C7orf57_ENST00000435376.1_Intron|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.K6fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.K51fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.K51fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	6										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGAACACAAGCAAGGAACTTCA	0.649																																							uc003toh.3		NA																	0				ovary(1)	1						c.(13-18)AGCAAGfs		hypothetical protein LOC136288																																				SO:0001589	frameshift_variant	136288							g.chr7:48075920_48075921insA	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.17dupA	7.37:g.48075922_48075922dupA	ENSP00000335500:p.Lys6fs					C7orf57_uc003toi.3_Intron	p.S5fs	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			2	227_228	+			5_6					C9JBJ8	Frame_Shift_Ins	INS	ENST00000348904.3	37	c.15_16insA	CCDS47583.1																																																																																				0.649	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		4	6	NA	NA	NA	NA	NA	4	6	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21534647	21534647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:21534647delC	ENST00000379510.3	+	9	891	c.855delC	c.(853-855)gacfs	p.D285fs	CNKSR2_ENST00000425654.2_Frame_Shift_Del_p.D285fs|CNKSR2_ENST00000279451.4_Frame_Shift_Del_p.D285fs|CNKSR2_ENST00000543067.1_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	285	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TACGAGAGGACCCGAGTGGTG	0.418																																							uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.(853-855)GACfs		connector enhancer of kinase suppressor of Ras							123.0	112.0	116.0					X																	21534647		2203	4300	6503	SO:0001589	frameshift_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21534647delC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.855delC	X.37:g.21534647delC	ENSP00000368824:p.Asp285fs					CNKSR2_uc004czw.2_Frame_Shift_Del_p.D285fs|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.D285fs	p.D285fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			9	891	+			285			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Del	DEL	ENST00000379510.3	37	c.855delC	CCDS14198.1																																																																																				0.418	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		29	79	NA	NA	NA	NA	NA	29	79	---	---	---	---
