#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
TMEM52	339456	broad.mit.edu	37	1	1849551	1849551	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:1849551C>A	ENST00000310991.3	-	5	407	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TMEM52_ENST00000378602.3_Missense_Mutation_p.G119W	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	134						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGCTCCCCAAAGGGCAGG	0.637																																						uc001aij.2																			0					0						c.(400-402)GGG>TGG		transmembrane protein 52 precursor							73.0	73.0	73.0					1																	1849551		2203	4300	6503	SO:0001583	missense	339456					integral to membrane		g.chr1:1849551C>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.400G>T	1.37:g.1849551C>A	ENSP00000311122:p.Gly134Trp					TMEM52_uc001aii.2_Missense_Mutation_p.G119W	p.G134W	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	436	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	134					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.400G>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	9.132	1.011585	0.19277	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.32272	1.46;1.46	4.01	2.91	0.33838	.	0.316389	0.21275	N	0.077255	T	0.26412	0.0645	L	0.55481	1.735	0.33334	D	0.568994	B;P	0.35844	0.087;0.524	B;B	0.30179	0.04;0.112	T	0.43360	-0.9396	10	0.59425	D	0.04	-15.6195	11.0866	0.48091	0.2268:0.7732:0.0:0.0	.	134;119	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	W	119;134	ENSP00000367865:G119W;ENSP00000311122:G134W	ENSP00000311122:G134W	G	-	1	0	TMEM52	1839411	0.000000	0.05858	0.833000	0.33012	0.409000	0.31022	0.271000	0.18626	0.891000	0.36235	0.561000	0.74099	GGG		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545	
ESPN	83715	broad.mit.edu	37	1	6517297	6517297	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:6517297C>T	ENST00000377828.1	+	11	2547	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	ESPN_ENST00000461727.1_Silent_p.L227L|ESPN_ENST00000416731.1_Silent_p.L227L|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	793	Glu-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGGGACCTCCTGCGGAAGA	0.642																																						uc001amy.2																			0					0						c.(2377-2379)CTC>CTT		espin							25.0	29.0	28.0					1																	6517297		2202	4300	6502	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6517297C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2379C>T	1.37:g.6517297C>T						ESPN_uc001amz.2_Silent_p.L227L	p.L793L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	11	2547	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	793			Glu-rich.|Potential.		Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.2379C>T	CCDS70.1	.	.	.	.	.	.	.	.	.	.	C	6.965	0.547948	0.13312	.	.	ENSG00000187017	ENST00000434576	.	.	.	5.08	2.1	0.27182	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51601	-0.8685	4	.	.	.	-6.9737	9.1575	0.37000	0.0:0.7468:0.0:0.2532	.	.	.	.	S	137	.	.	P	+	1	0	ESPN	6439884	1.000000	0.71417	0.677000	0.29947	0.581000	0.36288	2.235000	0.43044	0.514000	0.28300	-0.291000	0.09656	CCT		0.642	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475	
PRAMEF5	343068	broad.mit.edu	37	1	13366388	13366388	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:13366388G>C	ENST00000376168.1	+	3	932	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L		NM_001013407.1	NP_001013425.1	Q5TYX0	PRAM5_HUMAN	PRAME family member 5	278					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					central_nervous_system(1)|kidney(3)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATGAACTCTGTTTCTTTCCT	0.522																																						uc001auu.1																			0					0						c.(832-834)GTT>CTT		PRAME family member 6							47.0	37.0	42.0					1																	13366388		623	587	1210	SO:0001583	missense	343068							g.chr1:13366388G>C		CCDS72708.1	1p36.21	2014-07-15			ENSG00000204502			"""-"""	27995	protein-coding gene	gene with protein product			"""PRAME family member 23"""	PRAMEF23			Standard	NM_001013407		Approved	PRAMEF5L	uc001auu.1	Q5TYX0	OTTHUMG00000009505	ENST00000376168.1:c.832G>C	1.37:g.13366388G>C	ENSP00000365338:p.Val278Leu						p.V278L	NM_001010889	NP_001010889	Q5TYX0	PRAM5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	918	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	278			LRR 2.		A2BDD6|A4FU31	Missense_Mutation	SNP	ENST00000376168.1	37	c.832G>C	CCDS30596.1	.	.	.	.	.	.	.	.	.	.	.	4.769	0.142986	0.09083	.	.	ENSG00000204502	ENST00000376168	T	0.00949	5.51	1.15	-0.00517	0.14018	.	2.620740	0.01606	N	0.022287	T	0.01870	0.0059	L	0.59967	1.855	0.09310	N	1	.	.	.	.	.	.	T	0.46359	-0.9197	8	0.31617	T	0.26	.	5.2502	0.15517	0.0:0.4527:0.5473:0.0	.	.	.	.	L	278	ENSP00000365338:V278L	ENSP00000365338:V278L	V	+	1	0	PRAMEF5	13238975	0.009000	0.17119	0.023000	0.16930	0.354000	0.29330	0.280000	0.18790	0.000000	0.14550	0.184000	0.17185	GTT		0.522	PRAMEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026271.1	NM_001013407	
ZNF683	257101	broad.mit.edu	37	1	26691247	26691247	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:26691247C>T	ENST00000436292.1	-	4	910	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ZNF683_ENST00000403843.1_Missense_Mutation_p.G264S|ZNF683_ENST00000349618.3_Missense_Mutation_p.G264S|ZNF683_ENST00000374204.1_Missense_Mutation_p.G264S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	264					natural killer cell differentiation (GO:0001779)|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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGCTTGGCCAGAGGCTTGG	0.647																																						uc001bmg.1																			0					0						c.(790-792)GGC>AGC		zinc finger protein 683							36.0	40.0	38.0					1																	26691247		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691247C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.790G>A	1.37:g.26691247C>T	ENSP00000388792:p.Gly264Ser					ZNF683_uc001bmh.1_Missense_Mutation_p.G264S|ZNF683_uc009vsj.1_Missense_Mutation_p.G264S	p.G264S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	908	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	264					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.790G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.117503	0.77323	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801	T;T;T;T;T;T	0.25250	2.95;2.95;2.86;2.86;1.81;1.83	4.74	1.48	0.22813	.	0.303007	0.24128	N	0.041297	T	0.14098	0.0341	L	0.32530	0.975	0.09310	N	1	P;P	0.47350	0.879;0.894	B;B	0.41571	0.36;0.314	T	0.13656	-1.0501	10	0.11794	T	0.64	-8.0107	4.7261	0.12941	0.4128:0.4814:0.0:0.1058	.	264;264	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	S	264;264;264;264;272;264	ENSP00000384782:G264S;ENSP00000388792:G264S;ENSP00000363320:G264S;ENSP00000344095:G264S;ENSP00000411289:G272S;ENSP00000411290:G264S	ENSP00000344095:G264S	G	-	1	0	ZNF683	26563834	0.001000	0.12720	0.390000	0.26220	0.578000	0.36192	-0.382000	0.07408	0.571000	0.29365	0.561000	0.74099	GGC		0.647	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574	
KPNA6	23633	broad.mit.edu	37	1	32620313	32620317	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:32620313_32620317delAGAGC	ENST00000373625.3	+	2	222_226	c.129_133delAGAGC	c.(127-135)cgagagcaafs	p.EQ44fs	KPNA6_ENST00000545542.1_Frame_Shift_Del_p.EQ49fs|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Frame_Shift_Del_p.EQ41fs	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	44	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAAGCGAGAGCAACAAGTGAG	0.454																																						uc001bug.2																			0					0						c.(127-135)CGAGAGCAAfs		karyopherin alpha 6																																				SO:0001589	frameshift_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32620313_32620317delAGAGC	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.129_133delAGAGC	1.37:g.32620313_32620317delAGAGC	ENSP00000362728:p.Glu44fs					KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Frame_Shift_Del_p.R40fs|KPNA6_uc010ogy.1_Frame_Shift_Del_p.R48fs|KPNA6_uc009vtz.2_5'Flank	p.R43fs	NM_012316	NP_036448	O60684	IMA7_HUMAN			2	217_221	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	43_45			IBB.|Nuclear localization signal (By similarity).		B2RDC7|D3DPP5|Q5VVU3	Frame_Shift_Del	DEL	ENST00000373625.3	37	c.129_133delAGAGC	CCDS352.1																																																																																				0.454	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
CSMD2	114784	broad.mit.edu	37	1	34209005	34209005	+	Silent	SNP	G	G	A	rs141295499		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:34209005G>A	ENST00000373381.4	-	14	2225	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	643	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGGACGGGCGCCTCGG	0.612																																						uc001bxn.1																			0				ovary(6)|skin(5)|pancreas(1)	12						c.(1927-1929)CCC>CCT		CUB and Sushi multiple domains 2		G		1,4405	2.1+/-5.4	0,1,2202	67.0	67.0	67.0		1929	-11.4	0.0	1	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		643/3488	34209005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209005G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2049C>T	1.37:g.34209005G>A						CSMD2_uc001bxm.1_Silent_p.P683P	p.P643P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	1958	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	643			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.1929C>T																																																																																					0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
PTCH2	8643	broad.mit.edu	37	1	45307671	45307671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:45307671G>C	ENST00000372192.3	-	2	243	c.113C>G	c.(112-114)gCt>gGt	p.A38G	PTCH2_ENST00000447098.2_Missense_Mutation_p.A38G	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	38					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGAAGTAAGCACGAAGCCA	0.552									Basal Cell Nevus syndrome																													uc010olf.1																			0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(112-114)GCT>GGT		patched 2							99.0	100.0	100.0					1																	45307671		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307671G>C	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.113C>G	1.37:g.45307671G>C	ENSP00000361266:p.Ala38Gly					PTCH2_uc010olg.1_5'UTR	p.A38G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			2	125	-	Acute lymphoblastic leukemia(166;0.155)		38			Cytoplasmic (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.113C>G	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842863	0.91197	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	D	0.89822	0.6826	M	0.69185	2.1	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.90756	0.4661	10	0.62326	D	0.03	-1.0891	16.0996	0.81163	0.0:0.0:1.0:0.0	.	38	Q9Y6C5	PTC2_HUMAN	G	38	ENSP00000389703:A38G;ENSP00000361266:A38G	ENSP00000361266:A38G	A	-	2	0	PTCH2	45080258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.803000	0.91915	2.325000	0.78763	0.561000	0.74099	GCT		0.552	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
Unknown	0	broad.mit.edu	37	1	144615193	144615193	+	IGR	SNP	C	C	T	rs587649829	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:144615193C>T								RP11-640M9.2 (9302 upstream) : NBPF9 (196550 downstream)																							TAGAAATCAACGAGAAATTGC	0.522													.|||	24	0.00479233	0.0136	0.0043	5008	,	,		19159	0.002		0.0	False		,,,				2504	0.001					uc009wig.1																			0					0						c.(61-63)AAC>AAT		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144615193C>T																													1.37:g.144615193C>T						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Translation_Start_Site|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Translation_Start_Site|NBPF9_uc010oyg.1_Silent_p.N21N|NBPF9_uc009wii.1_Translation_Start_Site|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank	p.N21N	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			3	139	+			21						Silent	SNP		37	c.63C>T																																																																																				0	0.522								
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3																			5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
TCHH	7062	broad.mit.edu	37	1	152081057	152081057	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:152081057C>T	ENST00000368804.1	-	2	4635	c.4636G>A	c.(4636-4638)Ggg>Agg	p.G1546R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1546	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGTTGCCCGCGCTCCTGG	0.617																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4636-4638)GGG>AGG		trichohyalin							47.0	49.0	48.0					1																	152081057		1869	4098	5967	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081057C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4636G>A	1.37:g.152081057C>T	ENSP00000357794:p.Gly1546Arg					TCHH_uc009wne.1_Missense_Mutation_p.G1546R	p.G1546R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4636	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1546			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4636G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	8.384	0.838220	0.16891	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	3.05	3.05	0.35203	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.46062	-0.9218	9	0.17369	T	0.5	-2.8175	12.1201	0.53887	0.0:1.0:0.0:0.0	.	1546	Q07283	TRHY_HUMAN	R	1546	ENSP00000357794:G1546R	ENSP00000357794:G1546R	G	-	1	0	TCHH	150347681	0.003000	0.15002	0.007000	0.13788	0.050000	0.14768	0.646000	0.24797	1.775000	0.52247	0.441000	0.28932	GGG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
SLAMF8	56833	broad.mit.edu	37	1	159802791	159802791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:159802791C>T	ENST00000289707.5	+	3	642	c.493C>T	c.(493-495)Cga>Tga	p.R165*	SLAMF8_ENST00000368104.4_Nonsense_Mutation_p.R56*|C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTATAGCTGGCGACGGGAGAC	0.537																																						uc001fue.3																			0					0						c.(493-495)CGA>TGA		SLAM family member 8 precursor							107.0	103.0	104.0					1																	159802791		2203	4300	6503	SO:0001587	stop_gained	56833					integral to membrane		g.chr1:159802791C>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.493C>T	1.37:g.159802791C>T	ENSP00000289707:p.Arg165*						p.R165*	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN			3	703	+	all_hematologic(112;0.0597)		165			Ig-like C2-type.|Extracellular (Potential).		Q32MC6|Q5VU15	Nonsense_Mutation	SNP	ENST00000289707.5	37	c.493C>T	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523413	0.96431	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	.	.	.	4.6	4.6	0.57074	.	0.908506	0.09387	N	0.809089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.4824	12.8008	0.57584	0.0:1.0:0.0:0.0	.	.	.	.	X	165;56	.	ENSP00000289707:R165X	R	+	1	2	SLAMF8	158069415	0.743000	0.28239	0.999000	0.59377	0.437000	0.31866	0.930000	0.28858	2.378000	0.81104	0.650000	0.86243	CGA		0.537	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
SOAT1	6646	broad.mit.edu	37	1	179310266	179310266	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:179310266T>G	ENST00000367619.3	+	7	744	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	SOAT1_ENST00000539888.1_Missense_Mutation_p.F136V|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Missense_Mutation_p.F143V	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	201					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCCCTATTTTCTGTTTCA	0.448																																						uc001gml.2																			0				central_nervous_system(1)|skin(1)	2						c.(601-603)TTT>GTT		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						205.0	189.0	195.0					1																	179310266		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310266T>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.601T>G	1.37:g.179310266T>G	ENSP00000356591:p.Phe201Val					SOAT1_uc010pni.1_Missense_Mutation_p.F136V|SOAT1_uc001gmm.2_Missense_Mutation_p.F143V|SOAT1_uc010pnj.1_Translation_Start_Site|SOAT1_uc010pnk.1_Missense_Mutation_p.F136V	p.F201V	NM_003101	NP_003092	P35610	SOAT1_HUMAN			7	664	+			201					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.601T>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	T	9.257	1.042349	0.19748	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.96	1.98	0.26296	.	0.414232	0.27961	N	0.017153	T	0.44371	0.1290	N	0.10837	0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.16394	-1.0404	10	0.17369	T	0.5	-14.9774	7.0922	0.25289	0.1243:0.0:0.3128:0.5629	.	143;201	A8K3P4;P35610	.;SOAT1_HUMAN	V	136;143;201;201	ENSP00000441356:F136V;ENSP00000445315:F143V;ENSP00000356591:F201V;ENSP00000411309:F201V	ENSP00000356591:F201V	F	+	1	0	SOAT1	177576889	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	1.011000	0.29911	1.027000	0.39758	0.533000	0.62120	TTT		0.448	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	
HMCN1	83872	broad.mit.edu	37	1	186088926	186088926	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:186088926C>T	ENST00000271588.4	+	79	12235	c.12006C>T	c.(12004-12006)aaC>aaT	p.N4002N	HMCN1_ENST00000367492.2_Silent_p.N4002N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4002	Ig-like C2-type 39.				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						TCATTCTGAACAATCCTATTT	0.388																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(12004-12006)AAC>AAT		hemicentin 1 precursor							98.0	92.0	94.0					1																	186088926		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088926C>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.12006C>T	1.37:g.186088926C>T							p.N4002N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			79	12235	+			4002			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.12006C>T	CCDS30956.1																																																																																				0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
LBR	3930	broad.mit.edu	37	1	225598033	225598033	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:225598033C>T	ENST00000338179.2	-	10	1399	c.1274G>A	c.(1273-1275)aGt>aAt	p.S425N	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.S425N	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	425					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGCTGGAAACTATTAACTAA	0.443																																						uc001hoy.2																			0				ovary(1)|skin(1)	2						c.(1273-1275)AGT>AAT		lamin B receptor							126.0	123.0	124.0					1																	225598033		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598033C>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1274G>A	1.37:g.225598033C>T	ENSP00000339883:p.Ser425Asn					LBR_uc001hoz.2_Missense_Mutation_p.S425N|LBR_uc001hpa.1_Missense_Mutation_p.S425N	p.S425N	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1417	-	Breast(184;0.165)		425					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1274G>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712496	0.68730	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.99220	-4.21;-4.21;-5.58	5.87	5.87	0.94306	.	0.175856	0.64402	D	0.000010	D	0.99190	0.9719	M	0.74258	2.255	0.38105	D	0.937386	D	0.58970	0.984	P	0.56865	0.808	D	0.99934	1.1342	10	0.33940	T	0.23	-19.7459	20.5827	0.99408	0.0:1.0:0.0:0.0	.	425	Q14739	LBR_HUMAN	N	425;425;56	ENSP00000272163:S425N;ENSP00000339883:S425N;ENSP00000397817:S56N	ENSP00000272163:S425N	S	-	2	0	LBR	223664656	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.402000	0.44521	2.941000	0.99782	0.655000	0.94253	AGT		0.443	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
ERCC6	2074	broad.mit.edu	37	10	50667268	50667268	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:50667268T>C	ENST00000355832.5	-	21	4153	c.4075A>G	c.(4075-4077)Aaa>Gaa	p.K1359E	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.K729E	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1359					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCCTTTTTCATGATGCCA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3																			0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(4075-4077)AAA>GAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							94.0	103.0	100.0					10																	50667268		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667268T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4075A>G	10.37:g.50667268T>C	ENSP00000348089:p.Lys1359Glu					ERCC6_uc009xod.2_Missense_Mutation_p.K519E|ERCC6_uc010qgr.1_Missense_Mutation_p.K729E|ERCC6_uc001jhr.3_Missense_Mutation_p.K727E	p.K1359E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			21	4229	-			1359					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4075A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030938	0.54790	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83673	-1.75;-1.48	5.43	2.91	0.33838	.	.	.	.	.	T	0.74068	0.3668	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.004	T	0.56402	-0.7985	9	0.07175	T	0.84	-6.3467	5.5289	0.16972	0.0:0.163:0.1457:0.6914	.	1359;736	Q03468;Q59FF6	ERCC6_HUMAN;.	E	1359;736;729	ENSP00000348089:K1359E;ENSP00000445134:K729E	ENSP00000348089:K1359E	K	-	1	0	ERCC6	50337274	1.000000	0.71417	0.012000	0.15200	0.962000	0.63368	3.418000	0.52721	0.994000	0.38892	0.533000	0.62120	AAA		0.443	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PCDH15	65217	broad.mit.edu	37	10	55582616	55582616	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:55582616G>A	ENST00000320301.6	-	33	5264	c.4870C>T	c.(4870-4872)Cca>Tca	p.P1624S	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1621S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1601S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1626S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1555S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1584S|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1624					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)				GTAAGCAATGGATTGCTGCTA	0.418										HNSCC(58;0.16)																												uc001jju.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4870-4872)CCA>TCA		protocadherin 15 isoform CD1-4 precursor							197.0	194.0	195.0					10																	55582616		2203	4300	6503	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.chr10:55582616G>A	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	ENST00000320301.6:c.4870C>T	10.37:g.55582616G>A	ENSP00000322604:p.Pro1624Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1621S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1584S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1555S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1631S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1626S|PCDH15_uc010qia.1_Missense_Mutation_p.P1604S|PCDH15_uc010qib.1_Missense_Mutation_p.P1601S	p.P1624S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5265	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1624			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4870C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652708	0.29336	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56611	0.47;0.45;0.49;0.45;0.45;0.45	5.1	-0.102	0.13613	.	.	.	.	.	T	0.37812	0.1017	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B;B	0.15473	0.005;0.002;0.002;0.002;0.013;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.12156	0.006;0.004;0.004;0.004;0.007;0.004;0.004;0.004	T	0.27571	-1.0070	9	0.14656	T	0.56	.	6.839	0.23953	0.2744:0.1186:0.607:0.0	.	1601;1624;1626;1631;1555;1584;1621;1624	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	S	1584;1626;1601;1624;1621;1631;1555	ENSP00000378820:P1584S;ENSP00000354950:P1626S;ENSP00000378821:P1601S;ENSP00000322604:P1624S;ENSP00000378818:P1621S;ENSP00000412628:P1555S	ENSP00000322604:P1624S	P	-	1	0	PCDH15	55252622	0.163000	0.22920	0.000000	0.03702	0.233000	0.25261	1.013000	0.29937	0.170000	0.19704	0.655000	0.94253	CCA		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292|rs121909224		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R130G(OV56_OVARY)|R130G(KMBC2_URINARY_TRACT)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R130P(4)|p.R55fs*1(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.R130R(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)CGA>GGA		phosphatase and tensin homolog							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>G	10.37:g.89692904C>G	ENSP00000361021:p.Arg130Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130G	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1419	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.388C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305770	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.98362	-4.89	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97828	1.0261	9	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	130	P60484	PTEN_HUMAN	G	130	ENSP00000361021:R130G	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
HTR7	3363	broad.mit.edu	37	10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:92509172G>A	ENST00000336152.3	-	2	745	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HTR7_ENST00000277874.6_Missense_Mutation_p.T240M|HTR7_ENST00000371719.2_Missense_Mutation_p.T240M|HTR7_ENST00000371721.3_Missense_Mutation_p.T240M	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	240					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473																																						uc001kha.2																			0				ovary(1)	1						c.(718-720)ACG>ATG		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						89.0	94.0	92.0					10																	92509172		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509172G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.719C>T	10.37:g.92509172G>A	ENSP00000337949:p.Thr240Met					HTR7_uc001kgz.2_Missense_Mutation_p.T240M|HTR7_uc001khb.2_Missense_Mutation_p.T240M	p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	962	-			240			Helical; Name=5; (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.719C>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589626	0.86851	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.63418	-0.6642	10	0.72032	D	0.01	.	20.0697	0.97716	0.0:0.0:1.0:0.0	.	240;240	P34969;P34969-2	5HT7R_HUMAN;.	M	240	ENSP00000337949:T240M;ENSP00000277874:T240M;ENSP00000360784:T240M;ENSP00000360786:T240M	ENSP00000277874:T240M	T	-	2	0	HTR7	92499152	1.000000	0.71417	0.971000	0.41717	0.969000	0.65631	9.869000	0.99810	2.756000	0.94617	0.650000	0.86243	ACG		0.473	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
AFAP1L2	84632	broad.mit.edu	37	10	116060363	116060363	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:116060363G>A	ENST00000304129.4	-	14	1658	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	AFAP1L2_ENST00000545353.1_Silent_p.V596V|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Silent_p.V543V			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	543					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAAGGACTTGACAGGTGTGA	0.602																																						uc001lbn.2																			0				ovary(1)|breast(1)	2						c.(1627-1629)GTC>GTT		KIAA1914 protein isoform 1							107.0	97.0	100.0					10																	116060363		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060363G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1629C>T	10.37:g.116060363G>A						AFAP1L2_uc001lbo.2_Silent_p.V543V|AFAP1L2_uc010qse.1_Silent_p.V596V|AFAP1L2_uc001lbp.2_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.2_Intron|AFAP1L2_uc010qsd.1_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	p.V543V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	14	1930	-		Colorectal(252;0.175)|Breast(234;0.231)	543					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.1629C>T	CCDS31286.1																																																																																				0.602	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	
ATRNL1	26033	broad.mit.edu	37	10	117607492	117607492	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:117607492T>G	ENST00000355044.3	+	28	4134	c.4008T>G	c.(4006-4008)ccT>ccG	p.P1336P	ATRNL1_ENST00000423111.2_Silent_p.P387P|ATRNL1_ENST00000303745.7_Silent_p.P129P	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1336					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCCTCCCCCTGGGCAGTCAG	0.468																																						uc001lcg.2																			0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(4006-4008)CCT>CCG		attractin-like 1 precursor							97.0	87.0	90.0					10																	117607492		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117607492T>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4008T>G	10.37:g.117607492T>G						ATRNL1_uc010qsm.1_Silent_p.P465P|ATRNL1_uc010qsn.1_RNA	p.P1336P	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	28	4394	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1336			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.4008T>G	CCDS7592.1																																																																																				0.468	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
MKI67	4288	broad.mit.edu	37	10	129913850	129913850	+	Missense_Mutation	SNP	T	T	A	rs201790456		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:129913850T>A	ENST00000368654.3	-	7	1197	c.822A>T	c.(820-822)aaA>aaT	p.K274N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	274					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)				CAGCACTTTCTTTCTCTGTTG	0.443																																						uc001lke.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(820-822)AAA>AAT		antigen identified by monoclonal antibody Ki-67							89.0	93.0	91.0					10																	129913850		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913850T>A	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.822A>T	10.37:g.129913850T>A	ENSP00000357643:p.Lys274Asn					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.K274N	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1017	-		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)	274					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.822A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683617	0.29872	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.26223	1.75	3.59	-3.62	0.04543	.	1.305960	0.05418	N	0.543639	T	0.09512	0.0234	N	0.04508	-0.205	0.09310	N	1	B	0.28636	0.218	B	0.21546	0.035	T	0.20042	-1.0287	10	0.87932	D	0	.	1.3432	0.02158	0.1517:0.3556:0.2112:0.2816	.	274	P46013	KI67_HUMAN	N	274	ENSP00000357643:K274N	ENSP00000357643:K274N	K	-	3	2	MKI67	129803840	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.560000	0.05964	-0.736000	0.04831	-0.250000	0.11733	AAA		0.443	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
CHRNA10	57053	broad.mit.edu	37	11	3687530	3687530	+	Missense_Mutation	SNP	C	C	T	rs148252978	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:3687530C>T	ENST00000250699.2	-	5	1231	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	387					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCACAGACATCGTGGCTCGTG	0.667													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16547	0.0		0.0	False		,,,				2504	0.0				Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2																			0				ovary(1)	1						c.(1159-1161)CGA>CAA		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	C	GLN/ARG	5,4397	9.9+/-24.2	0,5,2196	66.0	69.0	68.0		1160	0.3	0.1	11	dbSNP_134	68	0,8596		0,0,4298	no	missense	CHRNA10	NM_020402.2	43	0,5,6494	TT,TC,CC		0.0,0.1136,0.0385	benign	387/451	3687530	5,12993	2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687530C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1160G>A	11.37:g.3687530C>T	ENSP00000250699:p.Arg387Gln					CHRNA10_uc010qxt.1_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.1_Missense_Mutation_p.R181Q	p.R387Q	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1232	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	387			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000250699.2	37	c.1160G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511294	0.27036	0.001136	0.0	ENSG00000129749	ENST00000250699	T	0.69926	-0.44	5.61	0.335	0.15953	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.705140	0.03595	N	0.232417	T	0.55000	0.1893	L	0.36672	1.1	0.25890	N	0.98349	B	0.21905	0.062	B	0.15052	0.012	T	0.27571	-1.0070	10	0.20519	T	0.43	.	7.8299	0.29336	0.0:0.543:0.0:0.457	.	387	Q9GZZ6	ACH10_HUMAN	Q	387	ENSP00000250699:R387Q	ENSP00000250699:R387Q	R	-	2	0	CHRNA10	3644106	0.000000	0.05858	0.137000	0.22149	0.726000	0.41606	-0.911000	0.04050	0.019000	0.15079	-0.367000	0.07326	CGA		0.667	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
OR5I1	10798	broad.mit.edu	37	11	55703265	55703265	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:55703265G>A	ENST00000301532.3	-	1	611	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	204					signal transduction (GO:0007165)	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(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAGCTGCCGTATGTGGAGA	0.403																																						uc010ris.1																			0				ovary(1)	1						c.(610-612)TAC>TAT		olfactory receptor, family 5, subfamily I,							41.0	46.0	45.0					11																	55703265		2200	4293	6493	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703265G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.612C>T	11.37:g.55703265G>A							p.Y204Y	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	612	-			204			Helical; Name=5; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.612C>T	CCDS7949.1																																																																																				0.403	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
TCN1	6947	broad.mit.edu	37	11	59630104	59630104	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:59630104G>T	ENST00000257264.3	-	3	455	c.351C>A	c.(349-351)caC>caA	p.H117Q	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	117	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCGATCAGGTGGTAATCAT	0.383																																						uc001noj.2																			0				ovary(2)	2						c.(349-351)CAC>CAA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						147.0	142.0	143.0					11																	59630104		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630104G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.351C>A	11.37:g.59630104G>T	ENSP00000257264:p.His117Gln						p.H117Q	NM_001062	NP_001053	P20061	TCO1_HUMAN			3	449	-		all_epithelial(135;0.198)	117					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.351C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064925	0.07273	.	.	ENSG00000134827	ENST00000257264	T	0.34472	1.36	5.43	-2.5	0.06384	.	0.778678	0.11119	N	0.597638	T	0.25195	0.0612	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.24941	-1.0146	10	0.51188	T	0.08	.	5.1809	0.15160	0.5294:0.0:0.3213:0.1493	.	117	P20061	TCO1_HUMAN	Q	117	ENSP00000257264:H117Q	ENSP00000257264:H117Q	H	-	3	2	TCN1	59386680	0.000000	0.05858	0.002000	0.10522	0.048000	0.14542	-2.526000	0.00947	-0.460000	0.07003	0.650000	0.86243	CAC		0.383	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
FAT3	120114	broad.mit.edu	37	11	92624150	92624150	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:92624150G>C	ENST00000298047.6	+	27	13658	c.13641G>C	c.(13639-13641)tcG>tcC	p.S4547S	FAT3_ENST00000409404.2_Silent_p.S4515S|FAT3_ENST00000525166.1_Silent_p.S4397S|FAT3_ENST00000533797.1_Silent_p.S850S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4547					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTCATCCTCGGATGTGTCTG	0.557										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(13543-13545)TCG>TCC		FAT tumor suppressor homolog 3							39.0	41.0	40.0					11																	92624150		2064	4204	6268	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624150G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13641G>C	11.37:g.92624150G>C		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.S987S	p.S4515S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			25	13562	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4547			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13545G>C																																																																																					0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MMP20	9313	broad.mit.edu	37	11	102477401	102477401	+	Missense_Mutation	SNP	C	C	T	rs141875245	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:102477401C>T	ENST00000260228.2	-	6	830	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	292					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GAATACTTTCCGAGGTCCTAG	0.522																																						uc001phc.2																			0				urinary_tract(1)|skin(1)	2						c.(817-819)CGG>CAG		matrix metalloproteinase 20 preproprotein		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	90.0	91.0	91.0		818	4.5	1.0	11	dbSNP_134	91	2,8596	2.2+/-6.3	0,2,4297	yes	missense	MMP20	NM_004771.3	43	0,4,6498	TT,TC,CC		0.0233,0.0454,0.0308	benign	273/484	102477401	4,13000	2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477401C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.818G>A	11.37:g.102477401C>T	ENSP00000260228:p.Arg273Gln						p.R273Q	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	831	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	273					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.818G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	9.164	1.019441	0.19355	4.54E-4	2.33E-4	ENSG00000137674	ENST00000260228	T	0.52057	0.68	5.45	4.54	0.55810	Metallopeptidase, catalytic domain (1);	0.084638	0.48767	D	0.000162	T	0.24699	0.0599	N	0.08118	0	0.37485	D	0.916149	B	0.19583	0.037	B	0.17433	0.018	T	0.13899	-1.0492	10	0.22706	T	0.39	.	8.3538	0.32318	0.0:0.828:0.0:0.172	.	273	O60882	MMP20_HUMAN	Q	273	ENSP00000260228:R273Q	ENSP00000260228:R273Q	R	-	2	0	MMP20	101982611	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	1.680000	0.37607	1.536000	0.49237	0.650000	0.86243	CGG		0.522	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		
ARHGAP32	9743	broad.mit.edu	37	11	128994764	128994764	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:128994764A>G	ENST00000310343.9	-	3	250	c.251T>C	c.(250-252)aTt>aCt	p.I84T	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.I10T	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	84					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCCAGGAATCTCTGGAAC	0.328																																						uc009zcp.2																			0				lung(3)|ovary(2)	5						c.(250-252)ATT>ACT		Rho GTPase-activating protein isoform 1							126.0	114.0	118.0					11																	128994764		1566	3578	5144	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128994764A>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.251T>C	11.37:g.128994764A>G	ENSP00000310561:p.Ile84Thr					ARHGAP32_uc009zcq.1_Missense_Mutation_p.I44T	p.I84T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			3	251	-			84					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.251T>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931189	0.52866	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.32272	1.46;1.46;1.46	5.82	5.82	0.92795	.	.	.	.	.	T	0.37433	0.1003	L	0.29908	0.895	0.80722	D	1	B;D	0.59357	0.048;0.985	B;P	0.55999	0.008;0.789	T	0.06972	-1.0797	9	0.38643	T	0.18	.	15.0079	0.71527	1.0:0.0:0.0:0.0	.	18;84	Q86T64;A7KAX9	.;RHG32_HUMAN	T	84;10;18;44	ENSP00000310561:I84T;ENSP00000432468:I10T;ENSP00000432303:I44T	ENSP00000310561:I84T	I	-	2	0	ARHGAP32	128499974	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.181000	0.58303	2.222000	0.72286	0.533000	0.62120	ATT		0.328	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
CACNA1C	775	broad.mit.edu	37	12	2786282	2786282	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:2786282G>T	ENST00000347598.4	+	42	4995	c.4995G>T	c.(4993-4995)aaG>aaT	p.K1665N	CACNA1C_ENST00000399603.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K1625N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K1642N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K1623N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K1658N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K1625N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K1645N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K1634N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K1636N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K1637N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K1617N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K1617N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1665					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGTTGGCAAGTTCTACGCCA	0.527																																						uc009zdu.1																			0				ovary(10)|central_nervous_system(1)	11						c.(4993-4995)AAG>AAT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						38.0	40.0	39.0					12																	2786282		2075	4242	6317	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2786282G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4995G>T	12.37:g.2786282G>T	ENSP00000266376:p.Lys1665Asn					CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K1353N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K1342N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'Flank	p.K1665N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	42	5308	+			1665			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4995G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820332	0.71028	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	4.33	2.45	0.29901	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.055528	0.64402	D	0.000001	D	0.95787	0.8629	M	0.78456	2.415	0.58432	D	0.999999	P;P;P;D;P;P;P;P;D;D;P;P;D;P;P;P;P;D;B;D;D;P;P;D;D	0.89917	0.951;0.73;0.726;0.997;0.604;0.765;0.726;0.64;1.0;0.996;0.765;0.825;0.986;0.64;0.549;0.88;0.763;1.0;0.404;1.0;1.0;0.765;0.853;1.0;1.0	P;B;B;D;B;B;B;B;D;D;B;P;D;P;B;P;B;D;B;D;D;B;P;D;D	0.97110	0.79;0.156;0.261;0.981;0.156;0.353;0.279;0.353;1.0;0.976;0.353;0.529;0.913;0.543;0.129;0.833;0.288;1.0;0.108;1.0;0.997;0.353;0.686;0.997;0.997	D	0.95365	0.8459	10	0.87932	D	0	.	10.6349	0.45558	0.1615:0.0:0.8385:0.0	.	308;1658;1614;1665;1617;1636;1617;1634;1645;1617;1637;1617;1577;1665;1617;1617;1617;1625;1623;1625;1606;1636;1636;1617;1617	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	1642;1617;1617;1645;1617;1636;1636;1625;1617;1665;1637;1617;1658;1634;1617;1623;1636;1617;1617;1617;1617;1625;1447	ENSP00000336982:K1642N;ENSP00000382563:K1617N;ENSP00000382552:K1617N;ENSP00000382547:K1645N;ENSP00000382506:K1617N;ENSP00000382530:K1636N;ENSP00000382546:K1636N;ENSP00000382500:K1625N;ENSP00000382549:K1617N;ENSP00000266376:K1665N;ENSP00000382515:K1637N;ENSP00000382510:K1617N;ENSP00000341092:K1658N;ENSP00000382537:K1634N;ENSP00000329877:K1617N;ENSP00000382557:K1623N;ENSP00000385724:K1636N;ENSP00000382512:K1617N;ENSP00000382542:K1617N;ENSP00000382526:K1617N;ENSP00000385896:K1617N;ENSP00000382504:K1625N	ENSP00000323129:K1447N	K	+	3	2	CACNA1C	2656543	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.963000	0.56773	1.064000	0.40671	0.455000	0.32223	AAG		0.527	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
KLRG1	10219	broad.mit.edu	37	12	9144889	9144889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9144889delA	ENST00000266551.4	+	2	185	c.170delA	c.(169-171)cagfs	p.Q57fs	KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Frame_Shift_Del_p.Q57fs|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	57					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGCTATACCAGTGGATCCTG	0.398																																						uc001qvh.2																			0				central_nervous_system(1)	1						c.(169-171)CAGfs		killer cell lectin-like receptor subfamily G,							212.0	198.0	203.0					12																	9144889		2203	4300	6503	SO:0001589	frameshift_variant	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9144889delA	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.170delA	12.37:g.9144889delA	ENSP00000266551:p.Gln57fs					KLRG1_uc001qvg.2_Frame_Shift_Del_p.Q57fs	p.Q57fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			2	181	+			57			Helical; Signal-anchor for type II membrane protein; (Potential).		B7ZAM2|O43198|O75613	Frame_Shift_Del	DEL	ENST00000266551.4	37	c.170delA																																																																																					0.398	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810	
PZP	5858	broad.mit.edu	37	12	9345129	9345129	+	Silent	SNP	C	C	T	rs374450463		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9345129C>T	ENST00000261336.2	-	12	1489	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	PZP_ENST00000381997.2_Silent_p.S356S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	487					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACTGAGCTCCGATAACTCTC	0.483																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1459-1461)TCG>TCA		pregnancy-zone protein precursor		C		1,4405	2.1+/-5.4	0,1,2202	79.0	75.0	76.0		1461	-4.0	0.0	12		76	0,8600		0,0,4300	no	coding-synonymous	PZP	NM_002864.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		487/1483	9345129	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9345129C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1461G>A	12.37:g.9345129C>T						PZP_uc009zgl.2_Silent_p.S356S	p.S487S	NM_002864	NP_002855					12	1490	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1461G>A	CCDS8600.1																																																																																				0.483	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
GUCY2C	2984	broad.mit.edu	37	12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:14827688G>A	ENST00000261170.3	-	8	1091	c.955C>T	c.(955-957)Cga>Tga	p.R319*	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	319					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GCAAAGTCTCGTTTTGTCTAA	0.363																																						uc001rcd.2																			0				ovary(4)|skin(2)	6						c.(955-957)CGA>TGA		guanylate cyclase 2C precursor							60.0	64.0	63.0					12																	14827688		2202	4300	6502	SO:0001587	stop_gained	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14827688G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.955C>T	12.37:g.14827688G>A	ENSP00000261170:p.Arg319*					GUCY2C_uc009zhz.2_Nonsense_Mutation_p.R319*	p.R319*	NM_004963	NP_004954	P25092	GUC2C_HUMAN			8	1092	-			319			Extracellular (Potential).		B2RMY6	Nonsense_Mutation	SNP	ENST00000261170.3	37	c.955C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074066	0.76415	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.68	1.97	0.26223	.	0.413363	0.30538	N	0.009408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.7086	0.00920	0.1957:0.1269:0.2283:0.4492	.	.	.	.	X	319	.	ENSP00000261170:R319X	R	-	1	2	GUCY2C	14718955	0.039000	0.19947	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.411000	0.25702	-0.262000	0.10625	CGA		0.363	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
ARHGAP9	64333	broad.mit.edu	37	12	57868660	57868660	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:57868660C>T	ENST00000356411.2	-	13	1844	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R550K|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R629K|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R640K|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R550K|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R366K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	569	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R569I(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527																																						uc001sod.2																			1	Substitution - Missense(1)		large_intestine(1)	lung(1)	1						c.(1918-1920)AGA>AAA		Rho GTPase activating protein 9 isoform 1							49.0	48.0	48.0					12																	57868660		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868660C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1706G>A	12.37:g.57868660C>T	ENSP00000348782:p.Arg569Lys					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.2_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.2_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	p.R640K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2112	-			569			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1919G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.132301|3.132301	0.56828|0.56828	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14;2.14;2.14	5.2|5.2	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.164275	.|0.52532	.|N	.|0.000075	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.25286|0.25286	0.73|0.73	0.32090|0.32090	N|N	0.591985|0.591985	.|B;B;B;B;B	.|0.32604	.|0.134;0.219;0.01;0.377;0.019	.|B;B;B;B;B	.|0.42771	.|0.047;0.191;0.016;0.397;0.074	T|T	0.21586|0.21586	-1.0241|-1.0241	5|10	.|0.38643	.|T	.|0.18	.|.	10.8783|10.8783	0.46923|0.46923	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	.|629;569;550;550;366	.|Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.|.;RHG09_HUMAN;.;.;.	K|K	20|550;569;220;550;640;599;366;57	.|ENSP00000377380:R550K;ENSP00000348782:R569K;ENSP00000394307:R550K;ENSP00000377386:R640K;ENSP00000397950:R366K;ENSP00000448423:R57K	.|ENSP00000344852:R599K	E|R	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56154927|56154927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.926000|1.926000	0.40084|0.40084	1.496000|1.496000	0.48567|0.48567	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.527	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
EBPL	84650	broad.mit.edu	37	13	50243922	50243922	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr13:50243922C>A	ENST00000242827.6	-	2	282	c.232G>T	c.(232-234)Gct>Tct	p.A78S	EBPL_ENST00000378268.1_Missense_Mutation_p.A78S|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_Missense_Mutation_p.A78S|EBPL_ENST00000378282.5_Missense_Mutation_p.A78S|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378272.5_Missense_Mutation_p.A78S	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	78					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CATAAAGAAGCAATCAAGCCA	0.378											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(39;857 1083 36109 42364 51411)	uc001vdg.2																			0					0						c.(232-234)GCT>TCT		emopamil binding related protein, delta8-delta7							95.0	87.0	90.0					13																	50243922		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50243922C>A	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.232G>T	13.37:g.50243922C>A	ENSP00000242827:p.Ala78Ser		OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_Missense_Mutation_p.A78S	p.A78S	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	2	295	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	78					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.232G>T	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884359	0.72410	.	.	ENSG00000123179	ENST00000378272;ENST00000378284;ENST00000242827;ENST00000378282;ENST00000378268	D;D;T	0.98075	-4.7;-4.7;0.34	5.56	4.72	0.59763	.	0.054427	0.64402	D	0.000001	D	0.97228	0.9094	L	0.60455	1.87	0.80722	D	1	D;D	0.57899	0.98;0.981	P;P	0.54856	0.762;0.642	D	0.95919	0.8929	10	0.32370	T	0.25	-3.4379	11.6569	0.51324	0.0:0.9167:0.0:0.0833	.	78;78	Q9BY08-2;Q9BY08	.;EBPL_HUMAN	S	78	ENSP00000242827:A78S;ENSP00000367531:A78S;ENSP00000367516:A78S	ENSP00000242827:A78S	A	-	1	0	EBPL	49141923	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	5.619000	0.67729	1.347000	0.45714	0.655000	0.94253	GCT		0.378	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565	
TINF2	26277	broad.mit.edu	37	14	24709082	24709082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:24709082C>T	ENST00000267415.7	-	9	1618	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.C391Y|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	426					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGTATTCACAGAGAGTGGG	0.463									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													uc001woa.3																			0					0						c.(1276-1278)TGT>TAT		TERF1 (TRF1)-interacting nuclear factor 2							108.0	109.0	109.0					14																	24709082		1891	4121	6012	SO:0001583	missense	26277	Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding	g.chr14:24709082C>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1277G>A	14.37:g.24709082C>T	ENSP00000267415:p.Cys426Tyr					TINF2_uc010alm.2_3'UTR|TINF2_uc001wob.3_3'UTR|TINF2_uc010tof.1_Missense_Mutation_p.C391Y|TINF2_uc001woc.3_3'UTR	p.C426Y	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	9	1619	-			426					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.1277G>A	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071773	0.08436	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.86769	-2.16;-2.17	5.76	-0.716	0.11212	.	0.412421	0.20928	N	0.083148	T	0.69824	0.3154	N	0.20401	0.57	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.51942	-0.8641	10	0.08837	T	0.75	-9.7461	5.521	0.16933	0.0:0.4522:0.1333:0.4146	.	391;426	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	Y	426;391	ENSP00000267415:C426Y;ENSP00000442154:C391Y	ENSP00000267415:C426Y	C	-	2	0	TINF2	23778922	0.850000	0.29656	0.991000	0.47740	0.283000	0.27025	-0.531000	0.06171	-0.173000	0.10761	-0.244000	0.11960	TGT		0.463	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2		
ZBTB25	7597	broad.mit.edu	37	14	64953897	64953897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:64953897C>T	ENST00000608382.1	-	3	1243	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.C351Y|ZBTB25_ENST00000555424.1_Missense_Mutation_p.C64Y	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	351					gene expression (GO:0010467)|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)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ACAGATGGTACAGCTCATTTT	0.368																																						uc001xhf.2																			0				ovary(1)|skin(1)	2						c.(1051-1053)TGT>TAT		zinc finger protein 46							131.0	135.0	133.0					14																	64953897		2203	4300	6503	SO:0001583	missense	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64953897C>T	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.1052G>A	14.37:g.64953897C>T	ENSP00000476746:p.Cys351Tyr					ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.C351Y	p.C351Y	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	3	1235	-			351			C2H2-type 2.		B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	c.1052G>A	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084906	0.76642	.	.	ENSG00000089775	ENST00000555424;ENST00000261683;ENST00000394715	D;D;D	0.99974	-10.2;-10.2;-10.2	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95710	0.8757	10	0.87932	D	0	-13.9333	20.4388	0.99107	0.0:1.0:0.0:0.0	.	351	P24278	ZBT25_HUMAN	Y	64;351;351	ENSP00000451046:C64Y;ENSP00000261683:C351Y;ENSP00000378204:C351Y	ENSP00000261683:C351Y	C	-	2	0	ZBTB25	64023650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.836000	0.97738	0.655000	0.94253	TGT		0.368	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977	
LTBP2	4053	broad.mit.edu	37	14	75017917	75017917	+	Silent	SNP	C	C	T	rs371191837		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:75017917C>T	ENST00000261978.4	-	7	1922	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.P512P|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P512P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701																																						uc001xqa.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)|skin(1)	2						c.(1534-1536)CCG>CCA		latent transforming growth factor beta binding		C		0,4404		0,0,2202	22.0	25.0	24.0		1536	-6.3	0.0	14		24	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LTBP2	NM_000428.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		512/1822	75017917	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017917C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1536G>A	14.37:g.75017917C>T							p.P512P	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	1923	-			512					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.1536G>A	CCDS9831.1																																																																																				0.701	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
SERPINA3	12	broad.mit.edu	37	14	95085658	95085658	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:95085658A>T	ENST00000467132.1	+	3	1918	c.770A>T	c.(769-771)gAg>gTg	p.E257V	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E257V|SERPINA3_ENST00000482740.1_Missense_Mutation_p.E39V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E257V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	257					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCGGGACGAGGAGCTGTCC	0.502																																						uc001ydp.2																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(769-771)GAG>GTG		serpin peptidase inhibitor, clade A, member 3							126.0	94.0	105.0					14																	95085658		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085658A>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.770A>T	14.37:g.95085658A>T	ENSP00000450540:p.Glu257Val					SERPINA3_uc001ydo.3_Missense_Mutation_p.E282V|SERPINA3_uc001ydr.2_Intron|SERPINA3_uc001ydq.2_Missense_Mutation_p.E257V|SERPINA3_uc001yds.2_Missense_Mutation_p.E257V|SERPINA3_uc010avg.2_Missense_Mutation_p.E257V	p.E257V	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	3	849	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	257					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.770A>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	8.177	0.793021	0.16327	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.66	2.19	0.27852	Serpin domain (3);	0.390886	0.24012	N	0.042367	D	0.93226	0.7842	M	0.88181	2.935	0.09310	N	1	B;P	0.45715	0.321;0.865	B;P	0.55871	0.195;0.786	D	0.86975	0.2100	10	0.66056	D	0.02	.	10.7302	0.46091	0.6942:0.3058:0.0:0.0	.	257;282	P01011;G3V5I3	AACT_HUMAN;.	V	282;257;257;257;257;39	ENSP00000452367:E282V;ENSP00000376793:E257V;ENSP00000376795:E257V;ENSP00000450540:E257V;ENSP00000451119:E39V	ENSP00000376793:E257V	E	+	2	0	SERPINA3	94155411	0.000000	0.05858	0.007000	0.13788	0.218000	0.24690	0.075000	0.14686	0.266000	0.21894	0.454000	0.30748	GAG		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
AHNAK2	113146	broad.mit.edu	37	14	105420083	105420083	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:105420083G>C	ENST00000333244.5	-	7	1824	c.1705C>G	c.(1705-1707)Cag>Gag	p.Q569E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	569						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGTCCTGTTCCTCAGTG	0.542																																						uc010axc.1																			0				ovary(1)	1						c.(1705-1707)CAG>GAG		AHNAK nucleoprotein 2							330.0	345.0	340.0					14																	105420083		2142	4252	6394	SO:0001583	missense	113146					nucleus		g.chr14:105420083G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1705C>G	14.37:g.105420083G>C	ENSP00000353114:p.Gln569Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	p.Q569E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1825	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	569					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1705C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	0.153	-1.089071	0.01873	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	4.76	-0.921	0.10472	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.47736	-0.9094	9	0.02654	T	1	.	9.2024	0.37268	0.0:0.2906:0.5418:0.1677	.	569	Q8IVF2	AHNK2_HUMAN	E	569	ENSP00000353114:Q569E	ENSP00000353114:Q569E	Q	-	1	0	AHNAK2	104491128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.544000	0.02192	-0.437000	0.07243	-0.397000	0.06425	CAG		0.542	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
ATP8B4	79895	broad.mit.edu	37	15	50226374	50226374	+	Missense_Mutation	SNP	T	T	G	rs114705901		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:50226374T>G	ENST00000284509.6	-	15	1434	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K431N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	431						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACAGGCTCTTTTTCCTGTA	0.348																																						uc001zxu.2																			0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1291-1293)AAA>AAC		ATPase class I type 8B member 4							76.0	79.0	78.0					15																	50226374		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226374T>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1293A>C	15.37:g.50226374T>G	ENSP00000284509:p.Lys431Asn					ATP8B4_uc010ber.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.1_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.1_RNA	p.K431N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1435	-		all_lung(180;0.00183)	431			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1293A>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	0.066	-1.213730	0.01555	.	.	ENSG00000104043	ENST00000284509	T	0.60040	0.22	5.61	-0.944	0.10392	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.213986	0.45867	N	0.000330	T	0.34629	0.0904	L	0.31926	0.97	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.07539	-1.0767	10	0.17832	T	0.49	.	2.5857	0.04829	0.1121:0.2937:0.1149:0.4793	.	431	Q8TF62	AT8B4_HUMAN	N	431	ENSP00000284509:K431N	ENSP00000284509:K431N	K	-	3	2	ATP8B4	48013666	0.114000	0.22134	0.005000	0.12908	0.096000	0.18686	0.049000	0.14099	-0.799000	0.04439	-1.431000	0.01090	AAA		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
OR4F6	390648	broad.mit.edu	37	15	102346502	102346502	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:102346502A>G	ENST00000328882.4	+	1	601	c.580A>G	c.(580-582)Aca>Gca	p.T194A		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGAGACCTACACATTGGGATT	0.368																																						uc010utr.1																			0				ovary(1)	1						c.(580-582)ACA>GCA		olfactory receptor, family 4, subfamily F,							168.0	165.0	166.0					15																	102346502		2203	4299	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346502A>G	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.580A>G	15.37:g.102346502A>G	ENSP00000327525:p.Thr194Ala						p.T194A	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	580	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		194			Extracellular (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.580A>G	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	0.899	-0.722954	0.03158	.	.	ENSG00000184140	ENST00000328882	T	0.00091	8.74	4.78	0.59	0.17458	GPCR, rhodopsin-like superfamily (1);	1.895800	0.02673	N	0.108857	T	0.00109	0.0003	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.45512	-0.9256	10	0.06365	T	0.9	.	1.5149	0.02503	0.5528:0.1663:0.1208:0.1602	.	194	Q8NGB9	OR4F6_HUMAN	A	194	ENSP00000327525:T194A	ENSP00000327525:T194A	T	+	1	0	OR4F6	100164025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.042000	0.13949	-0.000000	0.14550	-0.468000	0.05107	ACA		0.368	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1		
CYLD	1540	broad.mit.edu	37	16	50783900	50783900	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr16:50783900A>G	ENST00000427738.3	+	2	496	c.291A>G	c.(289-291)acA>acG	p.T97T	CYLD_ENST00000566206.1_Silent_p.T97T|CYLD_ENST00000540145.1_Silent_p.T97T|CYLD_ENST00000569418.1_Silent_p.T97T|CYLD_ENST00000398568.2_Silent_p.T97T|CYLD_ENST00000568704.2_Silent_p.T97T|CYLD_ENST00000564326.1_Silent_p.T97T|CYLD_ENST00000311559.9_Silent_p.T97T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	97					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAGTTCACAGAGTTACTTT	0.378			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(289-291)ACA>ACG		ubiquitin carboxyl-terminal hydrolase CYLD							86.0	84.0	84.0					16																	50783900		1826	4075	5901	SO:0001819	synonymous_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50783900A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.291A>G	16.37:g.50783900A>G						CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.2_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	p.T97T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			4	706	+		all_cancers(37;0.0156)	97					O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.291A>G	CCDS45482.1																																																																																				0.378	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
ASIC2	40	broad.mit.edu	37	17	32483431	32483431	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:32483431G>A	ENST00000359872.6	-	1	882	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	41					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R41W(1)								Amiloride(DB00594)	AGCACACGCCGGATGGTCAGC	0.602																																						uc002hhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(121-123)CGG>TGG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						47.0	53.0	51.0					17																	32483431		2203	4298	6501	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483431G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.121C>T	17.37:g.32483431G>A	ENSP00000352934:p.Arg41Trp						p.R41W	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	395	-		Breast(31;0.042)|Ovarian(249;0.202)	41			Helical; (Potential).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.121C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279393	0.80692	.	.	ENSG00000108684	ENST00000359872	T	0.66815	-0.23	4.96	4.96	0.65561	.	.	.	.	.	T	0.81138	0.4760	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83225	-0.0066	9	0.72032	D	0.01	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	41	Q16515	ACCN1_HUMAN	W	41	ENSP00000352934:R41W	ENSP00000352934:R41W	R	-	1	2	ACCN1	29507544	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.329000	0.59260	2.559000	0.86315	0.655000	0.94253	CGG		0.602	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
CDK12	51755	broad.mit.edu	37	17	37687203	37687203	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:37687203C>T	ENST00000447079.4	+	14	4140	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	CDK12_ENST00000430627.2_Silent_p.T1360T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1369					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGTCCAGACCCTGGTGAAGA	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(4105-4107)ACC>ACT		Cdc2-related kinase, arginine/serine-rich							70.0	68.0	69.0					17																	37687203		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687203C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4107C>T	17.37:g.37687203C>T		TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Silent_p.T1360T	p.T1369T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4693	+			1369					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.4107C>T	CCDS11337.1																																																																																				0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
KRT222	125113	broad.mit.edu	37	17	38812778	38812778	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:38812778A>C	ENST00000476049.1	-	6	805	c.764T>G	c.(763-765)tTa>tGa	p.L255*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.L255*			Q8N1A0	KT222_HUMAN	keratin 222	255						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGTGGCTGCTAAATGAAGATC	0.378																																						uc002hvc.2																			0				central_nervous_system(1)|skin(1)	2						c.(763-765)TTA>TGA		truncated type I keratin KA21							108.0	101.0	103.0					17																	38812778		2203	4300	6503	SO:0001587	stop_gained	125113					intermediate filament	structural molecule activity	g.chr17:38812778A>C	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.764T>G	17.37:g.38812778A>C	ENSP00000463483:p.Leu255*					KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	p.L255*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			6	829	-			255					Q7Z368	Nonsense_Mutation	SNP	ENST00000476049.1	37	c.764T>G	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741996	0.89573	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	.	.	.	5.93	4.85	0.62838	.	0.730463	0.12085	U	0.500960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8811	12.0219	0.53348	0.9326:0.0:0.0674:0.0	.	.	.	.	X	215;255	.	ENSP00000377613:L215X	L	-	2	0	KRT222	36066304	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	8.671000	0.91174	1.071000	0.40834	0.482000	0.46254	TTA		0.378	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						uc002hvz.2																			5	Substitution - Missense(5)		lung(2)|prostate(1)|kidney(1)|skin(1)		0						c.(361-363)AGA>AAA		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	401	-		Breast(137;0.000496)	121			20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
BRCA1	672	broad.mit.edu	37	17	41244603	41244603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:41244603G>A	ENST00000357654.3	-	10	3063	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	BRCA1_ENST00000471181.2_Missense_Mutation_p.P982L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.P686L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P982L|BRCA1_ENST00000493795.1_Missense_Mutation_p.P935L|BRCA1_ENST00000346315.3_Missense_Mutation_p.P982L|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	982					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAAAGTGGTGGTATACG	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2944-2946)CCA>CTA	Homologous_recombination	breast cancer 1, early onset isoform 1							90.0	92.0	91.0					17																	41244603		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244603G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2945C>T	17.37:g.41244603G>A	ENSP00000350283:p.Pro982Leu	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P911L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P935L|BRCA1_uc002ict.2_Missense_Mutation_p.P982L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	p.P982L	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3177	-		Breast(137;0.000717)	982					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2945C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115474	0.08831	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	4.89	3.93	0.45458	.	0.712293	0.12154	N	0.494633	T	0.66046	0.2750	L	0.39397	1.21	0.09310	N	1	B;B;B;B;B;B	0.18461	0.028;0.028;0.009;0.01;0.017;0.028	B;B;B;B;B;B	0.24394	0.006;0.006;0.009;0.016;0.024;0.053	T	0.58476	-0.7630	10	0.54805	T	0.06	.	8.4493	0.32860	0.1921:0.0:0.8079:0.0	.	982;941;982;982;982;982	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	L	982;982;982;982;686;982;935	ENSP00000350283:P982L;ENSP00000326002:P982L;ENSP00000246907:P982L;ENSP00000310938:P686L;ENSP00000418960:P982L;ENSP00000418775:P935L	ENSP00000310938:P686L	P	-	2	0	BRCA1	38498129	0.066000	0.20996	0.006000	0.13384	0.014000	0.08584	0.831000	0.27476	1.290000	0.44636	0.650000	0.86243	CCA		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
VEZF1	7716	broad.mit.edu	37	17	56056604	56056605	+	In_Frame_Ins	INS	-	-	TGC	rs61731354|rs57786397|rs138088904|rs369163670	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:56056604_56056605insTGC	ENST00000581208.1	-	5	1086_1087	c.1046_1047insGCA	c.(1045-1047)caa>caGCAa	p.349_349Q>QQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.340_340Q>QQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	349	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgctg	0.465																																						uc002ivf.1																			0				ovary(1)|breast(1)	2						c.(1045-1047)CAA>CAGCAA		zinc finger protein 161																																				SO:0001652	inframe_insertion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056604_56056605insTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046dupGCA	17.37:g.56056611_56056613dupTGC	ENSP00000462337:p.Gln354dup					VEZF1_uc010dcn.1_In_Frame_Ins_p.199_199Q>QQ	p.349_349Q>QQ	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			5	1189_1190	-			349			Poly-Gln.			In_Frame_Ins	INS	ENST00000581208.1	37	c.1046_1047insGCA	CCDS32687.1																																																																																				0.465	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1		
DCAF7	10238	broad.mit.edu	37	17	61657190	61657190	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:61657190C>A	ENST00000310827.4	+	4	631	c.414C>A	c.(412-414)acC>acA	p.T138T	DCAF7_ENST00000431926.1_Silent_p.T138T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	138					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCAGGTACCTCAAGCATTG	0.562																																						uc002jbc.2																			0				ovary(1)	1						c.(412-414)ACC>ACA		WD-repeat protein							95.0	98.0	97.0					17																	61657190		2065	4196	6261	SO:0001819	synonymous_variant	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61657190C>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.414C>A	17.37:g.61657190C>A						DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	p.T138T	NM_005828	NP_005819	P61962	DCAF7_HUMAN			4	631	+			138			WD 2.		B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	ENST00000310827.4	37	c.414C>A																																																																																					0.562	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828	
KPNA2	3838	broad.mit.edu	37	17	66033587	66033587	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:66033587G>A	ENST00000537025.2	+	3	809	c.189G>A	c.(187-189)ccG>ccA	p.P63P	KPNA2_ENST00000330459.3_Silent_p.P63P			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	63					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACTTCTCCGCTGCAGGAAA	0.398																																						uc002jgk.2																			0				central_nervous_system(2)	2						c.(187-189)CCG>CCA		karyopherin alpha 2							89.0	82.0	85.0					17																	66033587		2203	4296	6499	SO:0001819	synonymous_variant	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66033587G>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.189G>A	17.37:g.66033587G>A						KPNA2_uc002jgl.2_Silent_p.P63P	p.P63P	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	321	+	all_cancers(12;1.18e-09)		63					B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	ENST00000537025.2	37	c.189G>A	CCDS32713.1																																																																																				0.398	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266	
MGAT5B	146664	broad.mit.edu	37	17	74900424	74900424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:74900424G>A	ENST00000569840.2	+	6	1184	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	MGAT5B_ENST00000428789.2_Missense_Mutation_p.V215I|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V204I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	204					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCAGTGAGGTCGAGTGGTT	0.662																																						uc002jti.2																			0				ovary(2)|skin(1)	3						c.(643-645)GTC>ATC		N-acetylglucosaminyltranferase VB isoform 2							50.0	37.0	42.0					17																	74900424		2203	4298	6501	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74900424G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.610G>A	17.37:g.74900424G>A	ENSP00000456037:p.Val204Ile					MGAT5B_uc002jth.2_Missense_Mutation_p.V204I	p.V215I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			5	746	+			204			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.643G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296992	0.60086	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.50548	0.74;0.74	4.64	4.64	0.57946	.	0.068172	0.64402	D	0.000019	T	0.56381	0.1981	L	0.33189	0.99	0.53005	D	0.999968	D;D	0.67145	0.996;0.99	D;D	0.77557	0.99;0.986	T	0.53136	-0.8481	10	0.34782	T	0.22	-34.1838	14.815	0.70028	0.0:0.0:1.0:0.0	.	215;204	Q3V5L5-2;Q3V5L5-5	.;.	I	204;204;215	ENSP00000301618:V204I;ENSP00000391227:V215I	ENSP00000301618:V204I	V	+	1	0	MGAT5B	72412019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.342000	0.72982	2.381000	0.81170	0.655000	0.94253	GTC		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
ENGASE	64772	broad.mit.edu	37	17	77081816	77081816	+	Splice_Site	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:77081816G>A	ENST00000579016.1	+	13	1815	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	605						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAGATCCAGGTGATGCTTC	0.677																																						uc002jwv.2																			0				skin(1)	1						c.(1813-1815)CAG>CAA		endo-beta-N-acetylglucosaminidase							28.0	31.0	30.0					17																	77081816		1974	4152	6126	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77081816G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1815+1G>A	17.37:g.77081816G>A						ENGASE_uc002jww.2_Silent_p.Q310Q	p.Q605Q	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			13	1823	+			605					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.1815G>A	CCDS42394.1																																																																																				0.677	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Silent
SMCHD1	23347	broad.mit.edu	37	18	2705783	2705783	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:2705783G>T	ENST00000320876.6	+	14	2272	c.1934G>T	c.(1933-1935)gGa>gTa	p.G645V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.G645V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	645					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCTACAGGAGGAGAGGTT	0.333																																						uc002klm.3																			0					0						c.(1933-1935)GGA>GTA		structural maintenance of chromosomes flexible							83.0	79.0	80.0					18																	2705783		1863	4086	5949	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2705783G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1934G>T	18.37:g.2705783G>T	ENSP00000326603:p.Gly645Val					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	p.G645V	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			14	2123	+			645					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1934G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884947	0.51908	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.36340	1.26;1.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59616	-0.7421	10	0.87932	D	0	-17.0614	20.1951	0.98241	0.0:0.0:1.0:0.0	.	645	A6NHR9	SMHD1_HUMAN	V	645	ENSP00000326603:G645V;ENSP00000261598:G645V	ENSP00000261598:G645V	G	+	2	0	SMCHD1	2695783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.827000	0.75303	2.780000	0.95670	0.585000	0.79938	GGA		0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:28710546C>T	ENST00000257198.5	-	16	2877	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	872					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423																																						uc002kwn.2																			0				ovary(3)|skin(1)	4						c.(2614-2616)GAG>GAA		desmocollin 1 isoform Dsc1a preproprotein							159.0	157.0	158.0					18																	28710546		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710546C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2616G>A	18.37:g.28710546C>T						DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	p.E872E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2878	-			872			Cytoplasmic (Potential).		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2616G>A	CCDS11894.1																																																																																				0.423	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
TRAPPC8	22878	broad.mit.edu	37	18	29437807	29437807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:29437807C>T	ENST00000283351.4	-	20	3219	c.2884G>A	c.(2884-2886)Ggt>Agt	p.G962S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G908S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	962					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGTATTACCACCGAAAGTA	0.408																																						uc002kxc.3																			0					0						c.(2884-2886)GGT>AGT		hypothetical protein LOC22878							178.0	175.0	176.0					18																	29437807		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437807C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2884G>A	18.37:g.29437807C>T	ENSP00000283351:p.Gly962Ser					KIAA1012_uc002kxb.3_Missense_Mutation_p.G908S|KIAA1012_uc002kxd.3_Intron	p.G962S	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			20	3248	-			962					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2884G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137901	0.37728	.	.	ENSG00000153339	ENST00000283351	T	0.06449	3.3	5.21	5.21	0.72293	.	0.143655	0.64402	D	0.000007	T	0.02533	0.0077	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49707	-0.8911	10	0.09590	T	0.72	-16.8851	12.4766	0.55819	0.0:0.9227:0.0:0.0773	.	962	Q9Y2L5	TPPC8_HUMAN	S	962	ENSP00000283351:G962S	ENSP00000283351:G962S	G	-	1	0	TRAPPC8	27691805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.173000	0.58249	2.582000	0.87167	0.563000	0.77884	GGT		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
DOK6	220164	broad.mit.edu	37	18	67345078	67345078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:67345078G>A	ENST00000382713.5	+	4	588	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	133	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGTGCAGCGGGAACAGAAT	0.517																																						uc002lkl.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(397-399)CGG>CAG		docking protein 6							71.0	64.0	67.0					18																	67345078		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67345078G>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.398G>A	18.37:g.67345078G>A	ENSP00000372160:p.Arg133Gln						p.R133Q	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			4	588	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	133			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.398G>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477658	0.63849	.	.	ENSG00000206052	ENST00000382713	D	0.82893	-1.66	5.34	5.34	0.76211	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	L	0.54323	1.7	0.54753	D	0.999981	D	0.65815	0.995	P	0.54346	0.749	T	0.80681	-0.1274	10	0.18710	T	0.47	-16.3407	16.9217	0.86166	0.0:0.0:1.0:0.0	.	133	Q6PKX4	DOK6_HUMAN	Q	133	ENSP00000372160:R133Q	ENSP00000372160:R133Q	R	+	2	0	DOK6	65496058	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	CGG		0.517	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
C3	718	broad.mit.edu	37	19	6677935	6677935	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:6677935G>A	ENST00000245907.6	-	41	5042	c.4950C>T	c.(4948-4950)ggC>ggT	p.G1650G	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1650	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGGTGAAGGCGCCGAGGTCCT	0.562																																						uc002mfm.2																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(4948-4950)GGC>GGT		complement component 3 precursor							123.0	97.0	106.0					19																	6677935		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677935G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4950C>T	19.37:g.6677935G>A						C3_uc002mfl.2_Silent_p.G386G	p.G1650G	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5012	-			1650			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4950C>T	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
ZNF358	140467	broad.mit.edu	37	19	7584719	7584719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:7584719delC	ENST00000597229.1	+	2	761	c.591delC	c.(589-591)cacfs	p.H197fs	MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Frame_Shift_Del_p.H197fs	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	197					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TGGCTCAGCACCGTGGCATCC	0.711																																						uc002mgn.2																			0				central_nervous_system(1)	1						c.(589-591)CACfs		zinc finger protein 358							2.0	2.0	2.0					19																	7584719		1692	3434	5126	SO:0001589	frameshift_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584719delC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.591delC	19.37:g.7584719delC	ENSP00000472305:p.His197fs					MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	p.H197fs	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	761	+			197			C2H2-type 2.		Q9BTM7	Frame_Shift_Del	DEL	ENST00000597229.1	37	c.591delC	CCDS32890.2																																																																																				0.711	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1		
CCDC130	81576	broad.mit.edu	37	19	13876915	13876915	+	IGR	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:13876915G>C	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Intron|MRI1_ENST00000040663.6_Silent_p.L173L			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTGGTGCTCTGGCCACCGCTG	0.602																																						uc002mxe.2																			0				ovary(1)	1						c.(517-519)CTG>CTC		translation initiation factor eIF-2B subunit							30.0	33.0	32.0					19																	13876915		2203	4299	6502	SO:0001628	intergenic_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13876915G>C	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13876915G>C						MRI1_uc002mxf.2_Intron	p.L173L	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN			3	585	+			173					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.519G>C	CCDS12296.1																																																																																				0.602	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818	
ZNF461	92283	broad.mit.edu	37	19	37129609	37129609	+	Silent	SNP	G	G	A	rs188996971		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:37129609G>A	ENST00000588268.1	-	6	1865	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	ZNF461_ENST00000360357.4_Silent_p.G523G|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	546					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(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGCTTCTCGCCAGTATGAA	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		17083	0.001		0.0	False		,,,				2504	0.0					uc002oem.2																			0					0						c.(1636-1638)GGC>GGT		gonadotropin inducible transcription repressor							52.0	54.0	53.0					19																	37129609		1972	4178	6150	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129609G>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1638C>T	19.37:g.37129609G>A						ZNF461_uc002oen.2_Silent_p.G515G|ZNF461_uc010xtj.1_Silent_p.G523G	p.G546G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1866	-	Esophageal squamous(110;0.198)		546					A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.1638C>T	CCDS54257.1																																																																																				0.388	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
CATSPERG	57828	broad.mit.edu	37	19	38861189	38861189	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:38861189C>T	ENST00000409235.3	+	29	3352	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.G1039G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1079					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTTGTGGGCCTGGTGATCT	0.522																																						uc002oih.3																			0				ovary(1)|skin(1)	2						c.(3235-3237)GGC>GGT		cation channel, sperm-associated, gamma							250.0	181.0	204.0					19																	38861189		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861189C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3237C>T	19.37:g.38861189C>T						CATSPERG_uc002oig.3_Silent_p.G1039G|CATSPERG_uc002oif.3_Silent_p.G719G|CATSPERG_uc010efw.2_RNA	p.G1079G	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			29	3324	+			1079			Helical; (Potential).		A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.3237C>T	CCDS12514.2																																																																																				0.522	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
ZNF28	7576	broad.mit.edu	37	19	53303202	53303202	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53303202C>G	ENST00000457749.2	-	4	2015	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D	ZNF28_ENST00000360272.4_Missense_Mutation_p.E579D|ZNF28_ENST00000414252.2_Missense_Mutation_p.E579D|ZNF28_ENST00000438150.2_Missense_Mutation_p.E579D	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	632					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433																																						uc002qad.2																			0				skin(1)	1						c.(1894-1896)GAG>GAC		zinc finger protein 28							195.0	181.0	186.0					19																	53303202		2203	4297	6500	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303202C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1896G>C	19.37:g.53303202C>G	ENSP00000397693:p.Glu632Asp					ZNF28_uc002qac.2_Missense_Mutation_p.E579D|ZNF28_uc010eqe.2_Missense_Mutation_p.E578D	p.E632D	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2016	-			632					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1896G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.84	1.462682	0.26248	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30854	0.0778	N	0.25825	0.765	0.22954	N	0.998518	D	0.61697	0.99	P	0.59012	0.85	T	0.12760	-1.0535	9	0.62326	D	0.03	.	10.6341	0.45554	0.0:1.0:0.0:0.0	.	632	P17035	ZNF28_HUMAN	D	579;632;579;579	ENSP00000412143:E579D;ENSP00000397693:E632D;ENSP00000353410:E579D;ENSP00000444965:E579D	ENSP00000353410:E579D	E	-	3	2	ZNF28	57995014	0.008000	0.16893	0.752000	0.31206	0.702000	0.40608	0.322000	0.19576	0.995000	0.38917	0.298000	0.19748	GAG		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF28	7576	broad.mit.edu	37	19	53304215	53304215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304215C>T	ENST00000457749.2	-	4	1002	c.883G>A	c.(883-885)Gca>Aca	p.A295T	ZNF28_ENST00000360272.4_Missense_Mutation_p.A242T|ZNF28_ENST00000414252.2_Missense_Mutation_p.A242T|ZNF28_ENST00000438150.2_Missense_Mutation_p.A242T	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	295					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGTCTGCAGTATGAAGC	0.388																																						uc002qad.2																			0				skin(1)	1						c.(883-885)GCA>ACA		zinc finger protein 28							146.0	139.0	141.0					19																	53304215		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304215C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.883G>A	19.37:g.53304215C>T	ENSP00000397693:p.Ala295Thr					ZNF28_uc002qac.2_Missense_Mutation_p.A242T|ZNF28_uc010eqe.2_Missense_Mutation_p.A241T	p.A295T	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1003	-			295					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.883G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.91	1.484427	0.26598	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	1.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.16862	0.45	0.20821	N	0.999849	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	9	0.72032	D	0.01	.	5.7959	0.18387	0.3138:0.6862:0.0:0.0	.	295	P17035	ZNF28_HUMAN	T	242;295;242;242;242	ENSP00000412143:A242T;ENSP00000397693:A295T;ENSP00000353410:A242T;ENSP00000444965:A242T;ENSP00000375661:A242T	ENSP00000353410:A242T	A	-	1	0	ZNF28	57996027	0.001000	0.12720	0.071000	0.20095	0.011000	0.07611	1.396000	0.34531	0.607000	0.29982	0.186000	0.17326	GCA		0.388	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF28	7576	broad.mit.edu	37	19	53304299	53304299	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304299C>G	ENST00000457749.2	-	4	918	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ZNF28_ENST00000360272.4_Missense_Mutation_p.D214H|ZNF28_ENST00000414252.2_Missense_Mutation_p.D214H|ZNF28_ENST00000438150.2_Missense_Mutation_p.D214H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	267					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTCTCATCAATGTGAGAT	0.398																																						uc002qad.2																			0				skin(1)	1						c.(799-801)GAT>CAT		zinc finger protein 28							158.0	137.0	144.0					19																	53304299		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304299C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.799G>C	19.37:g.53304299C>G	ENSP00000397693:p.Asp267His					ZNF28_uc002qac.2_Missense_Mutation_p.D214H|ZNF28_uc010eqe.2_Missense_Mutation_p.D213H	p.D267H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	919	-			267					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.799G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	11.73	1.725194	0.30593	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.17854	2.39;2.39;2.39;2.39;2.25	1.37	1.37	0.22104	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.47078	1.49	0.09310	N	1	P	0.43231	0.801	P	0.48524	0.58	T	0.11036	-1.0604	9	0.87932	D	0	.	7.7701	0.29004	0.0:1.0:0.0:0.0	.	267	P17035	ZNF28_HUMAN	H	214;267;214;214;214	ENSP00000412143:D214H;ENSP00000397693:D267H;ENSP00000353410:D214H;ENSP00000444965:D214H;ENSP00000375661:D214H	ENSP00000353410:D214H	D	-	1	0	ZNF28	57996111	0.000000	0.05858	0.019000	0.16419	0.024000	0.10985	0.202000	0.17295	0.726000	0.32339	0.298000	0.19748	GAT		0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
LILRA6	79168	broad.mit.edu	37	19	54746595	54746595	+	Silent	SNP	C	C	T	rs369456930		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:54746595C>T	ENST00000396365.2	-	1	45	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRA6_ENST00000245621.5_Silent_p.T2T|LILRA6_ENST00000440558.2_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRA6_ENST00000419410.2_Silent_p.T2T	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	2					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647																																						uc010erh.1																			0				skin(2)|ovary(1)	3						c.(4-6)ACG>ACA		leukocyte immunoglobulin-like receptor,		G		1,4283		0,1,2141	68.0	60.0	63.0		6	-0.5	0.0	19		63	1,8525		0,1,4262	no	coding-synonymous	LILRA6	NM_024318.2		0,2,6403	TT,TC,CC		0.0117,0.0233,0.0156		2/482	54746595	2,12808	2142	4263	6405	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54746595C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.6G>A	19.37:g.54746595C>T						LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.T2T|LILRA6_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.T2T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.T2T|LILRA6_uc010yep.1_Silent_p.T2T|LILRA6_uc010yeq.1_Silent_p.T2T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.T2T|LILRA6_uc002qev.1_5'Flank	p.T2T	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1	130	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		2						Silent	SNP	ENST00000396365.2	37	c.6G>A	CCDS42610.1																																																																																				0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
NLRP7	199713	broad.mit.edu	37	19	55449588	55449588	+	Silent	SNP	C	C	T	rs370874996		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:55449588C>T	ENST00000590030.1	-	4	1993	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000588756.1_Silent_p.P651P|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Silent_p.P679P|NLRP7_ENST00000340844.2_Silent_p.P651P|NLRP7_ENST00000592784.1_Silent_p.P651P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	651			P -> S (in HYDM1). {ECO:0000269|PubMed:19246479}.				ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488																																						uc002qih.3																			0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1951-1953)CCG>CCA		NACHT, leucine rich repeat and PYD containing 7							89.0	84.0	86.0					19																	55449588		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55449588C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1953G>A	19.37:g.55449588C>T						NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Silent_p.P651P|NLRP7_uc010esk.2_Silent_p.P651P|NLRP7_uc010esl.2_Silent_p.P679P	p.P651P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2029	-			651		P -> S (in HYDM).			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1953G>A	CCDS33109.1																																																																																				0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
PEG3	5178	broad.mit.edu	37	19	57335864	57335864	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:57335864A>T	ENST00000326441.9	-	4	523	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.Y54N|PEG3_ENST00000594706.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	54	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATTCCACATAGATTAGGTTC	0.498																																						uc002qnu.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(160-162)TAT>AAT		paternally expressed 3 isoform 1							76.0	76.0	76.0					19																	57335864		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335864A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.160T>A	19.37:g.57335864A>T	ENSP00000326581:p.Tyr54Asn					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y54N|PEG3_uc002qnv.2_Missense_Mutation_p.Y54N|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Y54N	p.Y54N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	511	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	54			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.160T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196599	0.58126	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.06933	3.24;3.24	4.83	4.83	0.62350	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37261	N	0.002162	T	0.27278	0.0669	M	0.88906	2.99	.	.	.	P	0.50272	0.933	P	0.55667	0.781	T	0.49224	-0.8962	9	0.87932	D	0	-28.3814	11.3613	0.49644	1.0:0.0:0.0:0.0	.	54	Q9GZU2	PEG3_HUMAN	N	54	ENSP00000326581:Y54N;ENSP00000403051:Y54N	ENSP00000292074:Y54N	Y	-	1	0	ZIM2	62027676	0.072000	0.21174	0.924000	0.36721	0.873000	0.50193	1.169000	0.31871	2.121000	0.65114	0.533000	0.62120	TAT		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CRIM1	51232	broad.mit.edu	37	2	36740894	36740894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:36740894G>A	ENST00000280527.2	+	11	2343	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	659	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				GGACAGTGCTGCCCATCATGT	0.562																																						uc002rpd.2																			0				ovary(2)|skin(1)	3						c.(1975-1977)TGC>TAC		cysteine-rich motor neuron 1 precursor							52.0	48.0	49.0					2																	36740894		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.chr2:36740894G>A	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.1976G>A	2.37:g.36740894G>A	ENSP00000280527:p.Cys659Tyr						p.C659Y	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			11	2015	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	659			VWFC 3.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1976G>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413444	0.83449	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	D;T	0.92199	-2.99;-0.91	5.28	5.28	0.74379	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99387	1.0924	10	0.87932	D	0	-13.7632	17.9368	0.89014	0.0:0.0:1.0:0.0	.	659	Q9NZV1	CRIM1_HUMAN	Y	659;21	ENSP00000280527:C659Y;ENSP00000403120:C21Y	ENSP00000280527:C659Y	C	+	2	0	CRIM1	36594398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	TGC		0.562	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
ZNF638	27332	broad.mit.edu	37	2	71592818	71592818	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:71592818T>G	ENST00000409544.1	+	6	2607	c.1977T>G	c.(1975-1977)gcT>gcG	p.A659A	ZNF638_ENST00000355812.3_Silent_p.A659A|ZNF638_ENST00000377802.2_Silent_p.A659A|ZNF638_ENST00000264447.4_Silent_p.A659A|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	659					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATAAAGCTGTTTCTCTCC	0.363																																						uc002shx.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(1975-1977)GCT>GCG		zinc finger protein 638							37.0	37.0	37.0					2																	71592818		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71592818T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1977T>G	2.37:g.71592818T>G						ZNF638_uc010fec.2_Silent_p.A765A|ZNF638_uc010yqw.1_Silent_p.A238A|ZNF638_uc002shw.2_Silent_p.A659A|ZNF638_uc002shy.2_Silent_p.A659A|ZNF638_uc002shz.2_Silent_p.A659A|ZNF638_uc002sia.2_Silent_p.A659A|ZNF638_uc002sib.1_Silent_p.A659A|ZNF638_uc010fed.2_RNA	p.A659A	NM_014497	NP_055312	Q14966	ZN638_HUMAN			6	2296	+			659					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.1977T>G	CCDS1917.1																																																																																				0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
SLC9A2	6549	broad.mit.edu	37	2	103324656	103324656	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:103324656C>A	ENST00000233969.2	+	12	2289	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	716					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCTTCTTGCCAGAACAGTTC	0.527																																						uc002tca.2																			0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(2146-2148)CCA>CAA		solute carrier family 9 (sodium/hydrogen							85.0	95.0	91.0					2																	103324656		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324656C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2147C>A	2.37:g.103324656C>A	ENSP00000233969:p.Pro716Gln						p.P716Q	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2289	+			716			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2147C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440940	0.25900	.	.	ENSG00000115616	ENST00000233969	T	0.54279	0.58	5.48	3.22	0.36961	.	0.725238	0.13596	N	0.376202	T	0.27241	0.0668	N	0.14661	0.345	0.25947	N	0.982795	B	0.06786	0.001	B	0.04013	0.001	T	0.14504	-1.0470	10	0.13853	T	0.58	.	2.1826	0.03879	0.1833:0.4816:0.208:0.1271	.	716	Q9UBY0	SL9A2_HUMAN	Q	716	ENSP00000233969:P716Q	ENSP00000233969:P716Q	P	+	2	0	SLC9A2	102691088	0.730000	0.28100	1.000000	0.80357	0.950000	0.60333	0.660000	0.25009	1.370000	0.46153	0.655000	0.94253	CCA		0.527	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
UGGT1	56886	broad.mit.edu	37	2	128867271	128867271	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:128867271A>G	ENST00000259253.6	+	5	519	c.472A>G	c.(472-474)Act>Gct	p.T158A	UGGT1_ENST00000375990.3_Missense_Mutation_p.T134A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	158					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAAAGAAGACTTGTGAATC	0.388																																						uc002tps.2																			0				ovary(1)	1						c.(472-474)ACT>GCT		UDP-glucose ceramide glucosyltransferase-like 1							198.0	181.0	187.0					2																	128867271		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128867271A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.472A>G	2.37:g.128867271A>G	ENSP00000259253:p.Thr158Ala					UGGT1_uc010fme.1_Missense_Mutation_p.T33A|UGGT1_uc002tpr.2_Missense_Mutation_p.T134A	p.T158A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			5	650	+			158					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.472A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077513	0.20227	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.07567	3.18;3.18	5.5	4.34	0.51931	.	0.048775	0.85682	N	0.000000	T	0.08133	0.0203	L	0.43923	1.385	0.43222	D	0.995102	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.18681	-1.0329	10	0.21540	T	0.41	.	11.2645	0.49101	0.9274:0.0:0.0726:0.0	.	134;158	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	A	134;158	ENSP00000365158:T134A;ENSP00000259253:T158A	ENSP00000259253:T158A	T	+	1	0	UGGT1	128583741	1.000000	0.71417	0.998000	0.56505	0.375000	0.29983	3.651000	0.54431	1.021000	0.39600	0.482000	0.46254	ACT		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
TTN	7273	broad.mit.edu	37	2	179641950	179641950	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:179641950C>A	ENST00000591111.1	-	27	4964	c.4740G>T	c.(4738-4740)acG>acT	p.T1580T	TTN_ENST00000589042.1_Silent_p.T1580T|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1534T|TTN_ENST00000460472.2_Silent_p.T1534T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.T1580T|TTN_ENST00000360870.5_Silent_p.T1580T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.T1534T			Q8WZ42	TITIN_HUMAN	titin	12437	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T1580T(3)|p.T1534T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGTTACCCGTAGCTCTGA	0.373																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4738-4740)ACG>ACT		titin isoform N2-A							169.0	163.0	165.0					2																	179641950		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641950C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4740G>T	2.37:g.179641950C>A						TTN_uc010zfh.1_Silent_p.T1534T|TTN_uc010zfi.1_Silent_p.T1534T|TTN_uc010zfj.1_Silent_p.T1534T|TTN_uc002unb.2_Silent_p.T1580T|uc002unc.1_RNA	p.T1580T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	4964	-			1580					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.4740G>T																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PTH2R	5746	broad.mit.edu	37	2	209308179	209308179	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:209308179G>C	ENST00000272847.2	+	6	829	c.616G>C	c.(616-618)Gga>Cga	p.G206R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	206					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGCTCACATAGGAGTAAAGGA	0.413																																						uc002vdb.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(616-618)GGA>CGA		parathyroid hormone 2 receptor precursor							142.0	130.0	134.0					2																	209308179		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308179G>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.616G>C	2.37:g.209308179G>C	ENSP00000272847:p.Gly206Arg					PTH2R_uc010zjb.1_Missense_Mutation_p.G217R	p.G206R	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	829	+			206			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.616G>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983229	0.35036	.	.	ENSG00000144407	ENST00000272847	T	0.44881	0.91	5.29	3.4	0.38934	GPCR, family 2-like (1);	0.281562	0.24604	N	0.037110	T	0.33673	0.0871	L	0.39898	1.24	0.34902	D	0.746608	B;B	0.20459	0.006;0.045	B;B	0.23852	0.022;0.049	T	0.34329	-0.9833	10	0.42905	T	0.14	.	9.9521	0.41645	0.0:0.1508:0.6928:0.1564	.	95;206	B4DFN8;P49190	.;PTH2R_HUMAN	R	206	ENSP00000272847:G206R	ENSP00000272847:G206R	G	+	1	0	PTH2R	209016424	1.000000	0.71417	0.025000	0.17156	0.050000	0.14768	4.993000	0.63895	0.548000	0.28955	0.585000	0.79938	GGA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
TRPM8	79054	broad.mit.edu	37	2	234869493	234869493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:234869493A>G	ENST00000324695.4	+	12	1476	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	TRPM8_ENST00000433712.2_Missense_Mutation_p.E167G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	479					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTTTCTGGAGAATGGCTTG	0.483																																						uc002vvh.2																			0				skin(4)	4						c.(1435-1437)GAG>GGG		transient receptor potential cation channel,	Menthol(DB00825)						110.0	99.0	102.0					2																	234869493		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234869493A>G	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1436A>G	2.37:g.234869493A>G	ENSP00000323926:p.Glu479Gly					TRPM8_uc010fyj.2_Missense_Mutation_p.E167G	p.E479G	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1476	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	479			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1436A>G	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683264	0.88542	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.36699	1.24;1.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.83012	2.62	0.51233	D	0.999912	D;D	0.76494	0.998;0.999	D;D	0.80764	0.968;0.994	T	0.69292	-0.5183	10	0.87932	D	0	-37.948	14.9789	0.71296	1.0:0.0:0.0:0.0	.	167;479	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	G	479;167	ENSP00000323926:E479G;ENSP00000404423:E167G	ENSP00000323926:E479G	E	+	2	0	TRPM8	234534232	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.711000	0.84669	2.209000	0.71365	0.533000	0.62120	GAG		0.483	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
COL6A3	1293	broad.mit.edu	37	2	238283454	238283454	+	Missense_Mutation	SNP	C	C	T	rs369460632		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:238283454C>T	ENST00000295550.4	-	8	3732	c.3280G>A	c.(3280-3282)Gct>Act	p.A1094T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A894T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A888T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A888T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A487T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A687T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A893T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A888T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1094	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCGGACAGCGTTGACGACG	0.652																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3280-3282)GCT>ACT		alpha 3 type VI collagen isoform 1 precursor							63.0	62.0	62.0					2																	238283454		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283454C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3280G>A	2.37:g.238283454C>T	ENSP00000295550:p.Ala1094Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.2_Missense_Mutation_p.A888T|COL6A3_uc002vwr.2_Missense_Mutation_p.A687T	p.A1094T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3565	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1094			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3280G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203403	0.38905	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.118614	0.37623	N	0.002018	D	0.93798	0.8017	M	0.88181	2.935	0.34688	D	0.725418	D;D;D;D;P	0.89917	1.0;0.998;0.999;1.0;0.814	D;D;D;D;B	0.85130	0.997;0.958;0.983;0.992;0.246	D	0.96305	0.9224	10	0.59425	D	0.04	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	487;687;888;888;1094	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	T	1094;893;888;487;888;894;888;687	ENSP00000295550:A1094T;ENSP00000315609:A893T;ENSP00000315873:A888T;ENSP00000418285:A487T;ENSP00000386844:A888T;ENSP00000295546:A894T;ENSP00000375861:A888T;ENSP00000375860:A687T	ENSP00000295550:A1094T	A	-	1	0	COL6A3	237948193	0.048000	0.20356	0.172000	0.22920	0.006000	0.05464	1.552000	0.36244	2.652000	0.90054	0.655000	0.94253	GCT		0.652	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
UMODL1	89766	broad.mit.edu	37	21	43519135	43519135	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr21:43519135T>G	ENST00000408910.2	+	7	1031	c.1031T>G	c.(1030-1032)gTc>gGc	p.V344G	UMODL1_ENST00000400427.1_Missense_Mutation_p.V272G|UMODL1_ENST00000400424.2_Missense_Mutation_p.V272G|UMODL1_ENST00000408989.2_Missense_Mutation_p.V344G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTTCCATGTCCGGGTTTAC	0.547																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			0				ovary(2)|skin(1)	3						c.(1030-1032)GTC>GGC		uromodulin-like 1 isoform 1 precursor							100.0	100.0	100.0					21																	43519135		1943	4132	6075	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519135T>G		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1031T>G	21.37:g.43519135T>G	ENSP00000386147:p.Val344Gly					UMODL1_uc002zad.1_Missense_Mutation_p.V272G|UMODL1_uc002zae.1_Missense_Mutation_p.V272G|UMODL1_uc002zag.1_Missense_Mutation_p.V344G|UMODL1_uc010gow.1_Missense_Mutation_p.V136G|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V89G	p.V344G	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			7	1031	+			344			Extracellular (Potential).|Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1031T>G	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954021	0.34471	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.29	4.29	0.51040	Fibronectin, type III (2);	0.169423	0.27088	N	0.020987	T	0.68421	0.2999	L	0.34521	1.04	0.52099	D	0.999947	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.83275	0.986;0.996;0.916	T	0.71573	-0.4552	10	0.87932	D	0	-25.1079	11.6465	0.51263	0.0:0.0:0.0:1.0	.	272;344;344	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	G	272;272;344;344;190	ENSP00000383279:V272G;ENSP00000383276:V272G;ENSP00000386126:V344G;ENSP00000386147:V344G	ENSP00000369829:V190G	V	+	2	0	UMODL1	42392204	0.435000	0.25577	0.106000	0.21319	0.002000	0.02628	2.515000	0.45512	1.883000	0.54544	0.533000	0.62120	GTC		0.547	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
DGCR2	9993	broad.mit.edu	37	22	19044577	19044577	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:19044577G>C	ENST00000263196.7	-	6	971	c.724C>G	c.(724-726)Ccc>Gcc	p.P242A	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P201A|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	242					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCAGGGTGGGGAAATGGAAG	0.572																																						uc002zoq.1																			0				large_intestine(1)	1						c.(724-726)CCC>GCC		integral membrane protein DGCR2 precursor							86.0	65.0	72.0					22																	19044577		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19044577G>C	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.724C>G	22.37:g.19044577G>C	ENSP00000263196:p.Pro242Ala					DGCR2_uc002zor.1_Missense_Mutation_p.P18A|DGCR2_uc011agr.1_Missense_Mutation_p.P198A	p.P242A	NM_005137	NP_005128	P98153	IDD_HUMAN			6	972	-	Colorectal(54;0.0993)		242			Extracellular (Potential).		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.724C>G	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664974	0.88251	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	T;D	0.96940	0.93;-4.18	5.56	5.56	0.83823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.096266	0.64402	D	0.000001	D	0.97445	0.9164	M	0.63428	1.95	0.80722	D	1	D;D	0.62365	0.991;0.969	P;P	0.61658	0.892;0.659	D	0.97825	1.0259	10	0.66056	D	0.02	.	19.1403	0.93444	0.0:0.0:1.0:0.0	.	198;242	B7Z3T5;P98153	.;IDD_HUMAN	A	201;242;242	ENSP00000440062:P201A;ENSP00000263196:P242A	ENSP00000263196:P242A	P	-	1	0	DGCR2	17424577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.621000	0.67743	2.622000	0.88805	0.655000	0.94253	CCC		0.572	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	
CACNA1I	8911	broad.mit.edu	37	22	39966921	39966921	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:39966921C>T	ENST00000402142.3	+	1	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	CACNA1I_ENST00000400164.3_Missense_Mutation_p.A55V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A55V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A55V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A55V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A55V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	55					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGACCTGGCGCCTATTGCC	0.657																																						uc003ayc.2																			0				breast(1)|central_nervous_system(1)	2						c.(163-165)GCG>GTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						81.0	90.0	87.0					22																	39966921		2077	4189	6266	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966921C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.164C>T	22.37:g.39966921C>T	ENSP00000385019:p.Ala55Val					CACNA1I_uc003ayd.2_Missense_Mutation_p.A55V	p.A55V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			1	164	+	Melanoma(58;0.0749)		55			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.164C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694117	0.68386	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97114	-4.22;-4.17;-4.22;-4.17;-4.25;-4.14	5.27	5.27	0.74061	.	6.217160	0.01226	N	0.008238	D	0.96929	0.8997	L	0.32530	0.975	0.45791	D	0.998671	D;D	0.61697	0.99;0.983	P;B	0.49332	0.607;0.403	D	0.87786	0.2615	10	0.52906	T	0.07	.	19.2321	0.93843	0.0:1.0:0.0:0.0	.	55;55	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	V	55	ENSP00000385019:A55V;ENSP00000384093:A55V;ENSP00000383887:A55V;ENSP00000385680:A55V;ENSP00000337829:A55V;ENSP00000383028:A55V	ENSP00000337829:A55V	A	+	2	0	CACNA1I	38296867	1.000000	0.71417	0.958000	0.39756	0.834000	0.47266	5.503000	0.66962	2.633000	0.89246	0.561000	0.74099	GCG		0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
TGFBR2	7048	broad.mit.edu	37	3	30691812	30691812	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:30691812A>T	ENST00000295754.5	+	3	696	c.314A>T	c.(313-315)aAg>aTg	p.K105M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K130M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	105					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATGACCCCAAGCTCCCCTAC	0.443																																						uc003ceo.2																			0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(313-315)AAG>ATG		transforming growth factor, beta receptor II							111.0	108.0	109.0					3																	30691812		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691812A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.314A>T	3.37:g.30691812A>T	ENSP00000295754:p.Lys105Met					TGFBR2_uc003cen.2_Missense_Mutation_p.K130M	p.K105M	NM_003242	NP_003233	P37173	TGFR2_HUMAN			3	696	+			105			Extracellular (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.314A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.978571	0.34942	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.83335	-1.71;-1.71	5.97	-0.859	0.10685	Transforming growth factor beta receptor 2 ectodomain (1);	1.019500	0.07770	N	0.951594	T	0.78805	0.4341	L	0.36672	1.1	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.37451	0.202;0.25	T	0.69705	-0.5073	10	0.51188	T	0.08	.	7.3818	0.26859	0.347:0.429:0.224:0.0	.	105;130	P37173;D2JYI1	TGFR2_HUMAN;.	M	105;130	ENSP00000295754:K105M;ENSP00000351905:K130M	ENSP00000295754:K105M	K	+	2	0	TGFBR2	30666816	0.000000	0.05858	0.018000	0.16275	0.946000	0.59487	0.276000	0.18716	-0.088000	0.12506	-0.274000	0.10170	AAG		0.443	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
KLHL40	131377	broad.mit.edu	37	3	42729720	42729720	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:42729720C>T	ENST00000287777.4	+	2	1339	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	413					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CTCTCAACTCCATCTACGTGG	0.637																																						uc003clv.1																			0				ovary(1)	1						c.(1237-1239)TCC>TCT		kelch repeat and BTB (POZ) domain containing 5							60.0	57.0	58.0					3																	42729720		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42729720C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1239C>T	3.37:g.42729720C>T							p.S413S	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	2	1339	+			413			Kelch 2.		Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1239C>T	CCDS2703.1																																																																																				0.637	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393	
MORC1	27136	broad.mit.edu	37	3	108819325	108819325	+	Silent	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:108819325G>T	ENST00000483760.1	-	5	296	c.253C>A	c.(253-255)Cga>Aga	p.R85R	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Silent_p.R85R					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						TTTTTGGATCGTCCAAAGTAA	0.408																																						uc003dxl.2																			0				ovary(3)|skin(3)|breast(2)	8						c.(253-255)CGA>AGA		MORC family CW-type zinc finger 1							175.0	175.0	175.0					3																	108819325		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819325G>T	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.253C>A	3.37:g.108819325G>T						MORC1_uc011bhn.1_Silent_p.R85R	p.R85R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			5	340	-			85						Silent	SNP	ENST00000483760.1	37	c.253C>A																																																																																					0.408	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
RFC4	5984	broad.mit.edu	37	3	186508171	186508173	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:186508171_186508173delCAT	ENST00000392481.2	-	9	1105_1107	c.824_826delATG	c.(823-828)gatgga>gga	p.D275del	RFC4_ENST00000296273.2_In_Frame_Del_p.D275del|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Intron|SNORA4_ENST00000584302.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D275G(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAAATACTCCATCAATTTTCTC	0.424																																						uc003fqz.2																			1	Substitution - Missense(1)		kidney(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(823-828)GATGGA>GGA		replication factor C 4																																				SO:0001651	inframe_deletion	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186508171_186508173delCAT		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.824_826delATG	3.37:g.186508171_186508173delCAT	ENSP00000376272:p.Asp275del					RFC4_uc011bsc.1_In_Frame_Del_p.D275del	p.D275del	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	9	1047_1049	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		275					B4DM41|D3DNV2|Q6FHX7	In_Frame_Del	DEL	ENST00000392481.2	37	c.824_826delATG	CCDS3283.1																																																																																				0.424	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	
FBXL5	26234	broad.mit.edu	37	4	15632339	15632339	+	Missense_Mutation	SNP	T	T	G	rs370721474		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:15632339T>G	ENST00000341285.3	-	6	966	c.842A>C	c.(841-843)gAa>gCa	p.E281A	FBXL5_ENST00000382358.4_Missense_Mutation_p.E155A|FBXL5_ENST00000412094.2_Missense_Mutation_p.E264A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	281					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCACGACTTTCATCTTTCCT	0.343																																						uc003goc.1																			0					0						c.(841-843)GAA>GCA		F-box and leucine-rich repeat protein 5 isoform							129.0	111.0	117.0					4																	15632339		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15632339T>G	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.842A>C	4.37:g.15632339T>G	ENSP00000344866:p.Glu281Ala					FBXL5_uc010idw.1_Missense_Mutation_p.E194A|FBXL5_uc003gob.1_Missense_Mutation_p.E155A|FBXL5_uc010idx.1_Missense_Mutation_p.E280A|FBXL5_uc003god.1_Missense_Mutation_p.E264A|FBXL5_uc010idy.1_Missense_Mutation_p.E281A	p.E281A	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			6	945	-			281					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.842A>C	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.792981|4.792981	0.90453|0.90453	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.21932|.	1.98;1.98;1.98|.	5.4|5.4	5.4|5.4	0.78164|0.78164	F-box domain, Skp2-like (1);|.	0.044888|.	0.85682|.	D|.	0.000000|.	T|.	0.70509|.	0.3232|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|.	0.69320|.	-0.5176|.	10|.	0.52906|.	T|.	0.07|.	-21.4002|-21.4002	15.7276|15.7276	0.77774|0.77774	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	264;281|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	A|C	281;264;155|201	ENSP00000344866:E281A;ENSP00000408679:E264A;ENSP00000371795:E155A|.	ENSP00000344866:E281A|.	E|X	-|-	2|3	0|0	FBXL5|FBXL5	15241437|15241437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.438000|7.438000	0.80431|0.80431	2.159000|2.159000	0.67721|0.67721	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.343	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
CLOCK	9575	broad.mit.edu	37	4	56336906	56336906	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:56336906G>T	ENST00000309964.4	-	7	666	c.416C>A	c.(415-417)aCt>aAt	p.T139N	CLOCK_ENST00000513440.1_Missense_Mutation_p.T139N|CLOCK_ENST00000381322.1_Missense_Mutation_p.T139N	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	139	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAGTAATGAAGTTACACTCTC	0.299																																						uc003haz.1																			0				central_nervous_system(2)|ovary(1)	3						c.(415-417)ACT>AAT		clock							92.0	98.0	96.0					4																	56336906		2201	4299	6500	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336906G>T	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.416C>A	4.37:g.56336906G>T	ENSP00000308741:p.Thr139Asn					CLOCK_uc003hba.1_Missense_Mutation_p.T139N	p.T139N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1342	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		139			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.416C>A	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156591	0.94686	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.18174	2.23;2.23;2.23	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.55213	1.73	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	T	0.04796	-1.0926	10	0.72032	D	0.01	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	139	O15516	CLOCK_HUMAN	N	139	ENSP00000308741:T139N;ENSP00000370723:T139N;ENSP00000426983:T139N	ENSP00000308741:T139N	T	-	2	0	CLOCK	56031663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.789000	0.95967	0.591000	0.81541	ACT		0.299	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
UGT2B7	7364	broad.mit.edu	37	4	69962642	69962642	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:69962642A>T	ENST00000508661.1	+	1	431	c.404A>T	c.(403-405)aAa>aTa	p.K135I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.K135I			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	135					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCAAATAAGAAATTTATGAAA	0.313																																						uc003heg.3																			0				ovary(1)|skin(1)	2						c.(403-405)AAA>ATA		UDP glucuronosyltransferase 2B7 precursor							64.0	66.0	65.0					4																	69962642		2200	4299	6499	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962642A>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.404A>T	4.37:g.69962642A>T	ENSP00000427659:p.Lys135Ile					UGT2B7_uc010ihq.2_Missense_Mutation_p.K135I	p.K135I	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	450	+			135					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.404A>T		.	.	.	.	.	.	.	.	.	.	A	14.25	2.480640	0.44044	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61158	0.13;0.13	2.54	-0.439	0.12264	.	0.815270	0.10650	U	0.650037	T	0.74015	0.3661	M	0.90369	3.11	0.09310	N	1	P;B	0.48764	0.915;0.166	P;B	0.61201	0.885;0.128	T	0.62062	-0.6933	9	.	.	.	.	5.9501	0.19242	0.7288:0.0:0.2712:0.0	.	135;135	E9PBP8;P16662	.;UD2B7_HUMAN	I	135	ENSP00000304811:K135I;ENSP00000427659:K135I	.	K	+	2	0	UGT2B7	69997231	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.312000	0.19397	-0.192000	0.10432	0.260000	0.18958	AAA		0.313	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
UGT2B4	7363	broad.mit.edu	37	4	70351106	70351106	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:70351106G>T	ENST00000305107.6	-	5	1176	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.A241D	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	377					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GATGCCATTGGCTCCACCATG	0.413																																						uc003hek.3																			0				skin(2)	2						c.(1129-1131)GCC>GAC		UDP glucuronosyltransferase 2B4 precursor							131.0	134.0	133.0					4																	70351106		2203	4298	6501	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351106G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1130C>A	4.37:g.70351106G>T	ENSP00000305221:p.Ala377Asp					UGT2B4_uc011cap.1_Missense_Mutation_p.A241D|UGT2B4_uc003hel.3_Intron	p.A377D	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1177	-			377					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1130C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	6.258	0.415700	0.11870	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.63417	-0.04;3.25	1.96	0.148	0.14843	.	0.073888	0.52532	U	0.000067	T	0.60779	0.2295	M	0.86178	2.8	0.09310	N	1	B;P	0.42161	0.452;0.772	B;B	0.40982	0.328;0.345	T	0.58002	-0.7713	10	0.87932	D	0	.	5.8662	0.18777	0.3138:0.0:0.6862:0.0	.	241;377	A6NCP7;P06133	.;UD2B4_HUMAN	D	377;241	ENSP00000305221:A377D;ENSP00000370486:A241D	ENSP00000305221:A377D	A	-	2	0	UGT2B4	70385695	0.731000	0.28111	0.018000	0.16275	0.054000	0.15201	3.940000	0.56599	0.008000	0.14787	0.305000	0.20034	GCC		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
ANK2	287	broad.mit.edu	37	4	114274747	114274747	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:114274747T>C	ENST00000357077.4	+	38	5026	c.4973T>C	c.(4972-4974)gTt>gCt	p.V1658A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V1625A|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1658					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCAGACAGTTCAAGATAAG	0.473																																						uc003ibe.3																			0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4972-4974)GTT>GCT		ankyrin 2 isoform 1							81.0	81.0	81.0					4																	114274747		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274747T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4973T>C	4.37:g.114274747T>C	ENSP00000349588:p.Val1658Ala					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	p.V1658A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5073	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1625					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4973T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.791473	0.00623	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.65732	0.08;-0.04;-0.17;-0.17	5.29	-8.78	0.00824	.	1.852170	0.03076	N	0.157916	T	0.21468	0.0517	N	0.01003	-1.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16335	-1.0406	10	0.15066	T	0.55	.	0.7903	0.01056	0.1888:0.2294:0.2832:0.2986	.	1625;1658	Q01484;Q01484-4	ANK2_HUMAN;.	A	1571;1673;1658;1625	ENSP00000421011:V1571A;ENSP00000424722:V1673A;ENSP00000349588:V1658A;ENSP00000264366:V1625A	ENSP00000264366:V1625A	V	+	2	0	ANK2	114494196	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.227000	0.02950	-1.173000	0.02758	0.533000	0.62120	GTT		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PCDH10	57575	broad.mit.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:134071967_134071968insC	ENST00000264360.5	+	1	1498_1499	c.672_673insC	c.(673-675)cccfs	p.P225fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		gagcaggCCTGCCCCCCCAGCA	0.668																																						uc003iha.2																			0				ovary(2)	2						c.(670-675)CTGCCCfs		protocadherin 10 isoform 1 precursor																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071967_134071968insC	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.679dupC	4.37:g.134071974_134071974dupC	ENSP00000264360:p.Pro225fs					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Ins_p.L224fs	p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1498_1499	+			224_225			Extracellular (Potential).|Cadherin 2.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.672_673insC	CCDS34063.1																																																																																				0.668	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
CTNND2	1501	broad.mit.edu	37	5	11236806	11236806	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:11236806G>A	ENST00000304623.8	-	10	1947	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CTNND2_ENST00000511377.1_Silent_p.A495A|CTNND2_ENST00000359640.2_Silent_p.A586A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A249A|CTNND2_ENST00000458100.2_Silent_p.A153A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	586					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443																																						uc003jfa.1																			0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1756-1758)GCC>GCT		catenin (cadherin-associated protein), delta 2							110.0	117.0	115.0					5																	11236806		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236806G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1758C>T	5.37:g.11236806G>A						CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A153A	p.A586A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1903	-			586			ARM 3.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1758C>T	CCDS3881.1																																																																																				0.443	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
SLIT3	6586	broad.mit.edu	37	5	168098222	168098222	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:168098222C>T	ENST00000519560.1	-	34	4527	c.4108G>A	c.(4108-4110)Gac>Aac	p.D1370N	SLIT3_ENST00000404867.3_Missense_Mutation_p.D1370N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1377N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1370	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCAGGGGTCCCGGGCCTCC	0.672																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			0				ovary(3)|skin(1)	4						c.(4108-4110)GAC>AAC		slit homolog 3 precursor							22.0	23.0	23.0					5																	168098222		2188	4284	6472	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168098222C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4108G>A	5.37:g.168098222C>T	ENSP00000430333:p.Asp1370Asn					SLIT3_uc010jjg.2_Missense_Mutation_p.D1377N	p.D1370N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	4528	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1370			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4108G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419173	0.25552	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95307	-3.67;-3.67;-3.67	5.43	5.43	0.79202	Epidermal growth factor-like, type 3 (1);	0.195340	0.52532	D	0.000066	D	0.90317	0.6971	L	0.33093	0.98	0.58432	D	0.999993	B	0.06786	0.001	B	0.20577	0.03	D	0.85861	0.1410	10	0.33940	T	0.23	.	12.5781	0.56375	0.0:0.9242:0.0:0.0758	.	1370	O75094	SLIT3_HUMAN	N	1370;1377;1370	ENSP00000430333:D1370N;ENSP00000332164:D1377N;ENSP00000384890:D1370N	ENSP00000332164:D1377N	D	-	1	0	SLIT3	168030800	0.999000	0.42202	0.995000	0.50966	0.185000	0.23345	3.946000	0.56644	2.545000	0.85829	0.462000	0.41574	GAC		0.672	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
KIF13A	63971	broad.mit.edu	37	6	17826293	17826293	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:17826293A>G	ENST00000259711.6	-	15	1700	c.1595T>C	c.(1594-1596)cTa>cCa	p.L532P	KIF13A_ENST00000378826.2_Missense_Mutation_p.L532P|KIF13A_ENST00000378816.5_Missense_Mutation_p.L532P|KIF13A_ENST00000378843.2_Missense_Mutation_p.L532P|KIF13A_ENST00000378814.5_Missense_Mutation_p.L532P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	532					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTTCCCCATAGGATTCGGTC	0.398																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(1594-1596)CTA>CCA		kinesin family member 13A isoform a							84.0	80.0	81.0					6																	17826293		1878	4130	6008	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826293A>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1595T>C	6.37:g.17826293A>G	ENSP00000259711:p.Leu532Pro					KIF13A_uc003ncf.2_Missense_Mutation_p.L532P|KIF13A_uc003nch.3_Missense_Mutation_p.L532P|KIF13A_uc003nci.3_Missense_Mutation_p.L532P|KIF13A_uc003ncj.2_Missense_Mutation_p.L208P	p.L532P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		15	1700	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	532					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1595T>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554775	0.86231	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.8	5.8	0.92144	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.64402	D	0.000002	D	0.86075	0.5846	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.976;1.0;0.999;1.0	D;P;D;D;D	0.91635	0.996;0.804;0.991;0.996;0.999	D	0.88771	0.3264	10	0.87932	D	0	.	16.1448	0.81559	1.0:0.0:0.0:0.0	.	503;532;532;532;532	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	P	532	ENSP00000368091:L532P;ENSP00000259711:L532P;ENSP00000368103:L532P;ENSP00000368120:L532P;ENSP00000368093:L532P	ENSP00000259711:L532P	L	-	2	0	KIF13A	17934272	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	9.307000	0.96226	2.216000	0.71823	0.482000	0.46254	CTA		0.398	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
OR2B3	442184	broad.mit.edu	37	6	29054831	29054831	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:29054831A>T	ENST00000377173.2	-	1	259	c.195T>A	c.(193-195)aaT>aaA	p.N65K		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGGAGAGATTAGTGAGAA	0.398																																						uc003nlx.2																			0				skin(1)	1						c.(193-195)AAT>AAA		olfactory receptor, family 2, subfamily B,							149.0	143.0	145.0					6																	29054831		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054831A>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.195T>A	6.37:g.29054831A>T	ENSP00000366378:p.Asn65Lys						p.N65K	NM_001005226	NP_001005226					1	260	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.195T>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375069	0.61735	.	.	ENSG00000204703	ENST00000377173	T	0.12879	2.64	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000636	T	0.14743	0.0356	M	0.92169	3.28	0.26106	N	0.980747	P	0.45594	0.862	P	0.46208	0.507	T	0.24368	-1.0162	10	0.87932	D	0	.	4.9322	0.13923	0.7161:0.0:0.2839:0.0	.	65	O76000	OR2B3_HUMAN	K	65	ENSP00000366378:N65K	ENSP00000366378:N65K	N	-	3	2	OR2B3	29162810	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.439000	0.06897	1.385000	0.46445	0.472000	0.43445	AAT		0.398	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2		
BTNL2	56244	broad.mit.edu	37	6	32372722	32372722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:32372722C>T	ENST00000374993.1	-	2	420	c.421G>A	c.(421-423)Gta>Ata	p.V141I	BTNL2_ENST00000429232.2_Missense_Mutation_p.V141I|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.V141I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V141I|BTNL2_ENST00000414363.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	141						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCACCTGCTACTTTGAGCAGC	0.448																																						uc003obg.1																			0				central_nervous_system(1)	1						c.(421-423)GTA>ATA		butyrophilin-like 2							152.0	147.0	149.0					6																	32372722		1511	2708	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32372722C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.421G>A	6.37:g.32372722C>T	ENSP00000364132:p.Val141Ile					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.V141I	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	421	-			141			Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.421G>A		.	.	.	.	.	.	.	.	.	.	C	18.93	3.728706	0.69074	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232	T;T;T	0.12255	2.7;2.7;2.7	4.91	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.41097	D	0.000954	T	0.32466	0.0830	M	0.84948	2.725	0.29966	N	0.818974	D	0.76494	0.999	D	0.76071	0.987	T	0.08743	-1.0707	10	0.72032	D	0.01	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	141	Q9UIR0	BTNL2_HUMAN	I	141	ENSP00000364134:V141I;ENSP00000364132:V141I;ENSP00000411166:V141I	ENSP00000364132:V141I	V	-	1	0	BTNL2	32480700	0.983000	0.35010	0.929000	0.37066	0.585000	0.36419	4.487000	0.60293	2.755000	0.94549	0.632000	0.83419	GTA		0.448	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
CGA	1081	broad.mit.edu	37	6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	rs145503313		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:87796012C>T	ENST00000369582.2	-	3	329	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	77					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V77I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483																																						uc003plj.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(229-231)GTC>ATC		glycoprotein hormones, alpha polypeptide		C	ILE/VAL	0,4406		0,0,2203	196.0	192.0	193.0		229	4.3	0.9	6	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	CGA	NM_000735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/117	87796012	1,13005	2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796012C>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.229G>A	6.37:g.87796012C>T	ENSP00000358595:p.Val77Ile						p.V77I	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	330	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	77						Missense_Mutation	SNP	ENST00000369582.2	37	c.229G>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080860	0.01888	0.0	1.16E-4	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.35	0.52113	.	0.046039	0.85682	N	0.000000	T	0.02230	0.0069	N	0.00339	-1.615	0.29560	N	0.850677	B	0.15930	0.015	B	0.18561	0.022	T	0.44298	-0.9337	9	0.02654	T	1	-21.153	10.3843	0.44129	0.0:0.0853:0.0:0.9147	.	77	P01215	GLHA_HUMAN	I	77	.	ENSP00000358595:V77I	V	-	1	0	CGA	87852731	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.616000	0.61197	0.838000	0.34948	-0.225000	0.12378	GTC		0.483	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735	
LAMA2	3908	broad.mit.edu	37	6	129813614	129813614	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:129813614C>T	ENST00000421865.2	+	58	8279	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2744					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACGCCCACCCCAGTTCTGAC	0.443																																						uc003qbn.2																			0				ovary(8)|breast(1)|skin(1)	10						c.(8230-8232)CCA>TCA		laminin alpha 2 subunit isoform a precursor							68.0	74.0	72.0					6																	129813614		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129813614C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8230C>T	6.37:g.129813614C>T	ENSP00000400365:p.Pro2744Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.P2740S|uc003qbq.2_Intron	p.P2744S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	57	8335	+			2744					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8230C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795198	0.31777	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.34275	1.37	5.41	3.65	0.41850	.	0.466053	0.23321	N	0.049447	T	0.19525	0.0469	M	0.62723	1.935	0.21782	N	0.999542	P;P	0.35656	0.514;0.514	B;B	0.32677	0.15;0.105	T	0.06391	-1.0829	9	.	.	.	.	16.486	0.84183	0.0:0.8015:0.1985:0.0	.	2745;2744	A6NF00;P24043	.;LAMA2_HUMAN	S	2744;2743;2744;762	ENSP00000400365:P2744S	.	P	+	1	0	LAMA2	129855307	0.002000	0.14202	0.173000	0.22940	0.220000	0.24768	0.816000	0.27267	0.684000	0.31448	-0.932000	0.02703	CCA		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
PLG	5340	broad.mit.edu	37	6	161127532	161127532	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:161127532A>G	ENST00000308192.9	+	2	206	c.143A>G	c.(142-144)gAa>gGa	p.E48G	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E48G	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	48	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATAGAAGAATGTGCAGCA	0.468																																						uc003qtm.3																			0				skin(3)|ovary(1)	4						c.(142-144)GAA>GGA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						136.0	137.0	137.0					6																	161127532		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127532A>G	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.143A>G	6.37:g.161127532A>G	ENSP00000308938:p.Glu48Gly						p.E48G	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	206	+			48			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.143A>G	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.140288	0.77775	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	D;D;D	0.91521	-2.86;-2.86;-2.86	4.74	4.74	0.60224	PAN-1 domain (1);Apple-like (2);	0.362035	0.19438	U	0.114244	D	0.92606	0.7651	M	0.82056	2.57	0.49687	D	0.999813	D	0.56968	0.978	P	0.57846	0.828	D	0.93359	0.6725	10	0.72032	D	0.01	.	12.0822	0.53677	1.0:0.0:0.0:0.0	.	48	P00747	PLMN_HUMAN	G	48	ENSP00000355891:E48G;ENSP00000308938:E48G;ENSP00000389424:E48G	ENSP00000308938:E48G	E	+	2	0	PLG	161047522	1.000000	0.71417	0.010000	0.14722	0.413000	0.31143	6.501000	0.73691	1.894000	0.54839	0.533000	0.62120	GAA		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
MTURN	222166	broad.mit.edu	37	7	30174862	30174862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:30174862C>T	ENST00000324453.8	+	1	437	c.110C>T	c.(109-111)cCc>cTc	p.P37L	C7orf41_ENST00000415604.1_Missense_Mutation_p.P37L|C7orf41_ENST00000409688.1_Missense_Mutation_p.P37L	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		37					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						TACGCCGACCCCGGCGTCTCC	0.642																																						uc011kab.1																			0					0						c.(109-111)CCC>CTC		hypothetical protein LOC222166							23.0	30.0	28.0					7																	30174862		2174	4280	6454	SO:0001583	missense	222166							g.chr7:30174862C>T																												ENST00000324453.8:c.110C>T	7.37:g.30174862C>T	ENSP00000324204:p.Pro37Leu					C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.P37L	p.P37L	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN			1	311	+			37					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.110C>T	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529230	0.85706	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.66	3.66	0.41972	.	0.000000	0.64402	U	0.000001	T	0.62732	0.2452	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.67086	-0.5759	9	0.72032	D	0.01	-9.6508	12.8106	0.57637	0.0:1.0:0.0:0.0	.	37	Q8N3F0	CG041_HUMAN	L	37	.	ENSP00000324204:P37L	P	+	2	0	C7orf41	30141387	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.636000	0.74299	1.567000	0.49668	0.297000	0.19635	CCC		0.642	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1		
PDE1C	5137	broad.mit.edu	37	7	31855588	31855588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:31855588C>T	ENST00000396191.1	-	15	2218	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.R588H|PDE1C_ENST00000396182.2_Missense_Mutation_p.R588H|PDE1C_ENST00000396193.1_Missense_Mutation_p.R648H|PDE1C_ENST00000396184.3_Missense_Mutation_p.R588H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	588					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTTTTTCCCACGAGGGTTGTC	0.468																																						uc003tcm.1																			0				skin(3)|central_nervous_system(1)	4						c.(1762-1764)CGT>CAT		phosphodiesterase 1C							237.0	232.0	233.0					7																	31855588		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855588C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1763G>A	7.37:g.31855588C>T	ENSP00000379494:p.Arg588His					PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.1_Missense_Mutation_p.R648H|PDE1C_uc003tcr.2_Missense_Mutation_p.R588H|PDE1C_uc003tcs.2_Missense_Mutation_p.R588H	p.R588H	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	2232	-			588					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1763G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143958	0.06627	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72167	-0.63;-0.62;-0.62;-0.59;-0.59	5.34	-3.52	0.04682	.	1.363890	0.04732	N	0.421336	T	0.43500	0.1250	N	0.04508	-0.205	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24440	-1.0160	10	0.45353	T	0.12	.	3.3028	0.06989	0.1227:0.2205:0.1206:0.5363	.	588;648;588	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	H	648;588;588;588;588	ENSP00000379496:R648H;ENSP00000379494:R588H;ENSP00000318105:R588H;ENSP00000379487:R588H;ENSP00000379485:R588H	ENSP00000318105:R588H	R	-	2	0	PDE1C	31822113	0.000000	0.05858	0.815000	0.32552	0.003000	0.03518	-1.137000	0.03219	-0.323000	0.08602	-1.619000	0.00793	CGT		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
SUGCT	79783	broad.mit.edu	37	7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A	rs200690632		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:40228112G>A	ENST00000335693.4	+	4	289	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.R89Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.R82Q|C7orf10_ENST00000309930.5_Missense_Mutation_p.R89Q	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		89					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338																																						uc003thn.1																			0				ovary(2)	2						c.(244-246)CGA>CAA		dermal papilla derived protein 13							58.0	58.0	58.0					7																	40228112		1821	4081	5902	SO:0001583	missense	79783						transferase activity	g.chr7:40228112G>A																												ENST00000335693.4:c.266G>A	7.37:g.40228112G>A	ENSP00000338475:p.Arg89Gln					C7orf10_uc003thm.1_Missense_Mutation_p.R89Q|C7orf10_uc003tho.1_Missense_Mutation_p.R82Q	p.R82Q	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			4	290	+			89					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.245G>A	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.247256|5.247256	0.95305|0.95305	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834	.|D;T;T;T	.|0.90385	.|-2.66;0.01;0.01;0.01	5.5|5.5	5.5|5.5	0.81552|0.81552	.|CoA-transferase family III domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95414|0.95414	0.8511|0.8511	M|M	0.76838|0.76838	2.35|2.35	0.49582|0.49582	D|D	0.999802|0.999802	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.95540|0.95540	0.8611|0.8611	5|10	.|0.87932	.|D	.|0	-11.3254|-11.3254	18.5453|18.5453	0.91044|0.91044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|89;89;89	.|Q4KMW8;Q9HAC7;Q9HAC7-2	.|.;CG010_HUMAN;.	K|Q	84|89;89;89;82	.|ENSP00000312054:R89Q;ENSP00000385222:R89Q;ENSP00000338475:R89Q;ENSP00000445521:R82Q	.|ENSP00000312054:R89Q	E|R	+|+	1|2	0|0	C7orf10|C7orf10	40194637|40194637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.039000|8.039000	0.88947|0.88947	2.741000|2.741000	0.93983|0.93983	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.338	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
EGFR	1956	broad.mit.edu	37	7	55223624	55223624	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:55223624G>A	ENST00000275493.2	+	8	1168	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	EGFR_ENST00000442591.1_Missense_Mutation_p.G331R|EGFR_ENST00000342916.3_Missense_Mutation_p.G331R|EGFR_ENST00000344576.2_Missense_Mutation_p.G331R|EGFR_ENST00000455089.1_Missense_Mutation_p.G286R|EGFR_ENST00000454757.2_Missense_Mutation_p.G278R|EGFR_ENST00000420316.2_Missense_Mutation_p.G331R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	331					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAAGTGCGAAGGGCCTTGCCG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(991-993)GGG>AGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						35.0	32.0	33.0					7																	55223624		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223624G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.991G>A	7.37:g.55223624G>A	ENSP00000275493:p.Gly331Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.G331R|EGFR_uc003tqi.2_Missense_Mutation_p.G331R|EGFR_uc003tqj.2_Missense_Mutation_p.G331R|EGFR_uc010kzg.1_Missense_Mutation_p.G286R|EGFR_uc011kco.1_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.G331R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1237	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		331			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.991G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154187	0.78114	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.84433	2.695	0.80722	D	1	D;P;D;D;D	0.89917	0.988;0.954;1.0;0.995;0.999	P;P;D;D;D	0.97110	0.858;0.744;1.0;0.917;0.943	T	0.76613	-0.2895	10	0.62326	D	0.03	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	286;331;331;331;331	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	286;331;201;331;331;331;331;278;125	ENSP00000415559:G286R;ENSP00000342376:G331R;ENSP00000345973:G331R;ENSP00000413843:G331R;ENSP00000275493:G331R;ENSP00000410031:G331R;ENSP00000395243:G278R	ENSP00000275493:G331R	G	+	1	0	EGFR	55191118	1.000000	0.71417	0.973000	0.42090	0.369000	0.29798	6.623000	0.74238	2.655000	0.90218	0.655000	0.94253	GGG		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
WBSCR17	64409	broad.mit.edu	37	7	71130459	71130459	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:71130459A>T	ENST00000333538.5	+	7	1778	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	382					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTGAGCGGAAGAAGAAGCC	0.488																																						uc003tvy.2																			0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1144-1146)AAG>TAG		UDP-GalNAc:polypeptide							110.0	101.0	104.0					7																	71130459		2203	4300	6503	SO:0001587	stop_gained	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130459A>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1144A>T	7.37:g.71130459A>T	ENSP00000329654:p.Lys382*					WBSCR17_uc003tvz.2_Nonsense_Mutation_p.K81*	p.K382*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			7	1144	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	382			Lumenal (Potential).		Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	ENST00000333538.5	37	c.1144A>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	44	10.627909	0.99440	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.85	4.63	0.57726	.	0.162322	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7013	0.23227	0.7684:0.1551:0.0765:0.0	.	.	.	.	X	382	.	ENSP00000329654:K382X	K	+	1	0	WBSCR17	70768395	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.912000	0.48782	2.235000	0.73313	0.460000	0.39030	AAG		0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
MLXIPL	51085	broad.mit.edu	37	7	73011056	73011056	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:73011056G>A	ENST00000313375.3	-	11	1782	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R579W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R485W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R579W|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R579W|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R486W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	579					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGGCCGGGGCGGTGTA	0.692																																						uc003tyn.1																			0				pancreas(1)	1						c.(1735-1737)CGG>TGG		Williams Beuren syndrome chromosome region 14							8.0	10.0	9.0					7																	73011056		1951	4099	6050	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011056G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1735C>T	7.37:g.73011056G>A	ENSP00000320886:p.Arg579Trp					MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R579W|MLXIPL_uc003tym.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.R485W|MLXIPL_uc003tyq.1_Missense_Mutation_p.R346W	p.R579W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			11	1783	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	579					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1735C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.304896	0.40795	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.24538	2.44;2.46;2.45;2.45;1.85;1.86	4.22	1.2	0.21068	.	1.301070	0.04975	N	0.464627	T	0.33440	0.0863	N	0.24115	0.695	0.28745	N	0.901764	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	P;D;P;D;D;D	0.70016	0.897;0.967;0.897;0.952;0.951;0.967	T	0.26360	-1.0105	10	0.66056	D	0.02	-12.1272	4.39	0.11335	0.1104:0.0:0.4878:0.4018	.	486;486;579;579;579;579	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	W	579;579;579;579;486;485	ENSP00000412330:R579W;ENSP00000406296:R579W;ENSP00000320886:R579W;ENSP00000346629:R579W;ENSP00000378616:R486W;ENSP00000392636:R485W	ENSP00000320886:R579W	R	-	1	2	MLXIPL	72648992	0.988000	0.35896	0.968000	0.41197	0.328000	0.28507	1.948000	0.40303	0.472000	0.27344	0.531000	0.56144	CGG		0.692	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
SEMA3C	10512	broad.mit.edu	37	7	80390932	80390932	+	Splice_Site	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:80390932C>A	ENST00000265361.3	-	14	2046	c.1485G>T	c.(1483-1485)aaG>aaT	p.K495N	SEMA3C_ENST00000544525.1_Splice_Site_p.K513N|SEMA3C_ENST00000419255.2_Splice_Site_p.K495N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	495	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAGTTTTTACCTTTTTAGATG	0.229																																						uc003uhj.2																			0				ovary(1)	1						c.(1483-1485)AAG>AAT		semaphorin 3C precursor							32.0	34.0	33.0					7																	80390932		2125	4196	6321	SO:0001630	splice_region_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80390932C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1485+1G>T	7.37:g.80390932C>A						SEMA3C_uc011kgw.1_Missense_Mutation_p.K513N	p.K495N	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	2047	-			495			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1485G>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067431	0.76301	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.10573	2.86;2.86;2.86	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.52206	1.635	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.62298	0.839;0.9	T	0.00015	-1.2396	9	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	513;495	F5H1Z7;Q99985	.;SEM3C_HUMAN	N	495;495;513	ENSP00000265361:K495N;ENSP00000411193:K495N;ENSP00000445649:K513N	.	K	-	3	2	SEMA3C	80228868	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.878000	0.48515	2.871000	0.98454	0.655000	0.94253	AAG		0.229	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Missense_Mutation
PCLO	27445	broad.mit.edu	37	7	82581469	82581469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:82581469C>T	ENST00000333891.9	-	5	9137	c.8800G>A	c.(8800-8802)Gca>Aca	p.A2934T	PCLO_ENST00000423517.2_Missense_Mutation_p.A2934T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTCCCTGCGGTTAAATCA	0.433																																						uc003uhx.2																			0				ovary(7)	7						c.(8800-8802)GCA>ACA		piccolo isoform 1							108.0	109.0	109.0					7																	82581469		1908	4128	6036	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581469C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8800G>A	7.37:g.82581469C>T	ENSP00000334319:p.Ala2934Thr					PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.2_5'Flank	p.A2934T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9089	-			2865						Missense_Mutation	SNP	ENST00000333891.9	37	c.8800G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160850	0.21538	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20881	2.04;2.06	5.67	5.67	0.87782	.	.	.	.	.	T	0.45955	0.1368	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.973;0.98	T	0.33854	-0.9852	9	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	2934;2934	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2865;2934;2934	ENSP00000334319:A2934T;ENSP00000388393:A2934T	ENSP00000334319:A2934T	A	-	1	0	PCLO	82419405	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	5.922000	0.70036	2.660000	0.90430	0.557000	0.71058	GCA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SAMD9L	219285	broad.mit.edu	37	7	92761300	92761300	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92761300T>C	ENST00000318238.4	-	5	5201	c.3985A>G	c.(3985-3987)Agg>Ggg	p.R1329G	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1329G|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1329G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1329					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTTTTCCTGCAATTCTCC	0.388																																						uc003umh.1																			0				ovary(4)	4						c.(3985-3987)AGG>GGG		sterile alpha motif domain containing 9-like							77.0	80.0	79.0					7																	92761300		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761300T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3985A>G	7.37:g.92761300T>C	ENSP00000326247:p.Arg1329Gly					SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc011khx.1_Intron	p.R1329G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5201	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1329					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3985A>G	CCDS34681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.535037|3.535037	0.64972|0.64972	.|.	.|.	ENSG00000177409|ENSG00000177409	ENST00000394472|ENST00000318238;ENST00000411955;ENST00000437805	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.22|5.22	4.05|4.05	0.47172|0.47172	.|.	.|0.064498	.|0.56097	.|D	.|0.000022	.|T	.|0.51176	.|0.1659	M|M	0.68593|0.68593	2.085|2.085	0.36524|0.36524	D|D	0.870303|0.870303	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	.|T	.|0.61879	.|-0.6972	.|10	.|0.72032	.|D	.|0.01	.|-13.0011	11.9494|11.9494	0.52946|0.52946	0.0:0.0:0.1457:0.8543|0.0:0.0:0.1457:0.8543	.|.	.|1329	.|Q8IVG5	.|SAM9L_HUMAN	.|G	-1|1329	.|ENSP00000326247:R1329G;ENSP00000405760:R1329G;ENSP00000408796:R1329G	.|ENSP00000326247:R1329G	.|R	-|-	.|1	.|2	SAMD9L|SAMD9L	92599236|92599236	0.000000|0.000000	0.05858|0.05858	0.706000|0.706000	0.30403|0.30403	0.944000|0.944000	0.59088|0.59088	0.839000|0.839000	0.27586|0.27586	0.979000|0.979000	0.38497|0.38497	0.383000|0.383000	0.25322|0.25322	.|AGG		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
HEPACAM2	253012	broad.mit.edu	37	7	92848596	92848596	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92848596G>A	ENST00000394468.2	-	2	325	c.248C>T	c.(247-249)tCt>tTt	p.S83F	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S106F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S71F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S71F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	83					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTATTCACAGAGCCCAGTAA	0.478																																						uc003umm.2																			0				ovary(3)|breast(1)|kidney(1)	5						c.(247-249)TCT>TTT		HEPACAM family member 2 isoform 1							155.0	147.0	150.0					7																	92848596		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848596G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.248C>T	7.37:g.92848596G>A	ENSP00000377980:p.Ser83Phe					HEPACAM2_uc003uml.2_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.2_Missense_Mutation_p.S71F|HEPACAM2_uc011khy.1_Missense_Mutation_p.S106F	p.S83F	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	271	-			83			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.248C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079306	0.55753	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.103412	0.64402	D	0.000002	T	0.50531	0.1621	L	0.34521	1.04	0.47905	D	0.999549	B;P;B;B	0.39094	0.4;0.659;0.116;0.347	B;B;B;B	0.34873	0.191;0.191;0.145;0.069	T	0.47182	-0.9137	10	0.10111	T	0.7	-20.894	20.269	0.98464	0.0:0.0:1.0:0.0	.	106;71;83;71	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	F	83;71;71;106	ENSP00000377980:S83F;ENSP00000340532:S71F;ENSP00000389592:S71F;ENSP00000390204:S106F	ENSP00000340532:S71F	S	-	2	0	HEPACAM2	92686532	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.448000	0.66612	2.878000	0.98634	0.650000	0.86243	TCT		0.478	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
NPTX2	4885	broad.mit.edu	37	7	98254367	98254367	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:98254367C>T	ENST00000265634.3	+	3	942	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	259	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGGTCCAGCGCCTCACCAG	0.607																																						uc003upl.2																			0				central_nervous_system(2)|skin(1)	3						c.(775-777)AGC>AGT		neuronal pentraxin II precursor							146.0	118.0	127.0					7																	98254367		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254367C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.777C>T	7.37:g.98254367C>T							p.S259S	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	954	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		259			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.777C>T	CCDS5657.1																																																																																				0.607	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
LAMB4	22798	broad.mit.edu	37	7	107720190	107720190	+	Silent	SNP	A	A	C	rs554035095		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:107720190A>C	ENST00000388781.3	-	15	1826	c.1743T>G	c.(1741-1743)gtT>gtG	p.V581V	LAMB4_ENST00000414450.2_Silent_p.V581V|LAMB4_ENST00000205386.4_Silent_p.V581V|LAMB4_ENST00000388780.3_Silent_p.V581V|LAMB4_ENST00000418464.1_Silent_p.V581V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	581	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTCTCCTAAAACAACGTGAA	0.502																																						uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1741-1743)GTT>GTG		laminin, beta 4 precursor							56.0	52.0	53.0					7																	107720190		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107720190A>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1743T>G	7.37:g.107720190A>C						LAMB4_uc003vey.2_Silent_p.V581V	p.V581V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			15	1827	-			581			Laminin IV type B.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1743T>G	CCDS34732.1																																																																																				0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
EPHA1	2041	broad.mit.edu	37	7	143095767	143095767	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:143095767G>C	ENST00000275815.3	-	6	1349	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	421	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCATTTTGGGCTTCCACAT	0.607																																						uc003wcz.2																			0				ovary(3)|lung(1)|breast(1)	5						c.(1261-1263)GCC>GCG		ephrin receptor EphA1 precursor							85.0	76.0	79.0					7																	143095767		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095767G>C	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1263C>G	7.37:g.143095767G>C							p.A421A	NM_005232	NP_005223	P21709	EPHA1_HUMAN			6	1350	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	421			Extracellular (Potential).|Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.1263C>G	CCDS5884.1																																																																																				0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
GIMAP4	55303	broad.mit.edu	37	7	150269791	150269791	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:150269791C>T	ENST00000255945.2	+	3	808	c.633C>T	c.(631-633)cgC>cgT	p.R211R	GIMAP4_ENST00000461940.1_Silent_p.R225R|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCAGCGCGTGGTGAGGG	0.542																																						uc003whl.2																			0				ovary(1)	1						c.(631-633)CGC>CGT		GTPase, IMAP family member 4							93.0	90.0	91.0					7																	150269791		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269791C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.633C>T	7.37:g.150269791C>T						GIMAP4_uc011kuu.1_Silent_p.R72R|GIMAP4_uc011kuv.1_Silent_p.R225R	p.R211R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	715	+			211			Potential.			Silent	SNP	ENST00000255945.2	37	c.633C>T	CCDS5904.1																																																																																				0.542	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326	
KCNU1	157855	broad.mit.edu	37	8	36693858	36693858	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:36693858T>A	ENST00000399881.3	+	13	1377	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	447	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAATCATCATACAGATACTG	0.358																																						uc010lvw.2																			0				ovary(1)	1						c.(1339-1341)ATA>AAA		potassium channel, subfamily U, member 1							147.0	141.0	143.0					8																	36693858		1837	4088	5925	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36693858T>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1340T>A	8.37:g.36693858T>A	ENSP00000382770:p.Ile447Lys					KCNU1_uc003xjw.2_RNA	p.I447K	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	13	1427	+			447			RCK N-terminal.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.1340T>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737003	0.49045	.	.	ENSG00000215262	ENST00000399881	T	0.70282	-0.47	5.6	5.6	0.85130	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.192059	0.23069	U	0.052295	T	0.76378	0.3979	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.78833	-0.2048	10	0.87932	D	0	-7.8538	10.1653	0.42877	0.0:0.075:0.0:0.925	.	447	A8MYU2	KCNU1_HUMAN	K	447	ENSP00000382770:I447K	ENSP00000382770:I447K	I	+	2	0	KCNU1	36813016	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.050000	0.64251	2.251000	0.74343	0.528000	0.53228	ATA		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
TMEM70	54968	broad.mit.edu	37	8	74893724	74893724	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:74893724A>C	ENST00000312184.5	+	3	724	c.651A>C	c.(649-651)aaA>aaC	p.K217N	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	217					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAAAACAAAATCACTGTTAG	0.343																																						uc003yab.2																			0				ovary(1)	1						c.(649-651)AAA>AAC		transmembrane protein 70 isoform a							101.0	97.0	99.0					8																	74893724		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74893724A>C	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.651A>C	8.37:g.74893724A>C	ENSP00000312599:p.Lys217Asn					TMEM70_uc003yac.2_3'UTR	p.K217N	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		3	738	+	Breast(64;0.0311)		217					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.651A>C	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379803	0.61845	.	.	ENSG00000175606	ENST00000312184	T	0.68181	-0.31	5.38	3.04	0.35103	.	0.171753	0.52532	D	0.000071	T	0.78368	0.4272	M	0.77103	2.36	0.44508	D	0.997456	D	0.89917	1.0	D	0.73380	0.98	T	0.75975	-0.3128	10	0.44086	T	0.13	-20.292	9.3944	0.38392	0.857:0.0:0.143:0.0	.	217	Q9BUB7	TMM70_HUMAN	N	217	ENSP00000312599:K217N	ENSP00000312599:K217N	K	+	3	2	TMEM70	75056278	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	2.179000	0.42528	0.508000	0.28173	0.533000	0.62120	AAA		0.343	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866	
KIAA0196	9897	broad.mit.edu	37	8	126056120	126056120	+	Missense_Mutation	SNP	C	C	T	rs541330058		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:126056120C>T	ENST00000318410.7	-	23	3146	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.A785T|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	933					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGCAATGGCGGAAAAATAA	0.353																																						uc003yrt.2																			0				ovary(2)	2						c.(2797-2799)GCC>ACC		strumpellin							74.0	70.0	71.0					8																	126056120		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126056120C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2797G>A	8.37:g.126056120C>T	ENSP00000318016:p.Ala933Thr					KIAA0196_uc011lir.1_Missense_Mutation_p.A785T|KIAA0196_uc003yru.1_Missense_Mutation_p.A507T	p.A933T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		23	3126	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		933					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2797G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636365	0.67130	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86297	-2.1;-2.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.966;0.999	B;D	0.79784	0.362;0.993	D	0.89087	0.3480	10	0.22706	T	0.39	-15.7371	19.8585	0.96775	0.0:1.0:0.0:0.0	.	785;933	E7EQI7;Q12768	.;STRUM_HUMAN	T	933;785	ENSP00000318016:A933T;ENSP00000429676:A785T	ENSP00000318016:A933T	A	-	1	0	KIAA0196	126125302	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.772000	0.85439	2.760000	0.94817	0.655000	0.94253	GCC		0.353	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	
GPR20	2843	broad.mit.edu	37	8	142367229	142367229	+	Silent	SNP	C	C	A	rs372583253		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:142367229C>A	ENST00000377741.3	-	2	885	c.795G>T	c.(793-795)gcG>gcT	p.A265A	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	265					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657																																						uc003ywf.2																			0				upper_aerodigestive_tract(1)	1						c.(793-795)GCG>GCT		G protein-coupled receptor 20							46.0	36.0	39.0					8																	142367229		2201	4300	6501	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367229C>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.795G>T	8.37:g.142367229C>A							p.A265A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	884	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		265			Extracellular (Potential).		Q17R96	Silent	SNP	ENST00000377741.3	37	c.795G>T	CCDS34949.1																																																																																				0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293	
SMARCA2	6595	broad.mit.edu	37	9	2104169	2104169	+	Splice_Site	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:2104169G>A	ENST00000382203.1	+	23	3501	c.3292G>A	c.(3292-3294)Ggc>Agc	p.G1098S	SMARCA2_ENST00000382194.1_Splice_Site_p.G1098S|SMARCA2_ENST00000357248.2_Splice_Site_p.G1098S|SMARCA2_ENST00000349721.2_Splice_Site_p.G1098S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1098	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCCTTGATGGTAAGTGCAT	0.438																																						uc003zhc.2																			0				ovary(2)|central_nervous_system(1)	3						c.(3292-3294)GGC>AGC		SWI/SNF-related matrix-associated							128.0	110.0	116.0					9																	2104169		2203	4300	6503	SO:0001630	splice_region_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2104169G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3292+1G>A	9.37:g.2104169G>A						SMARCA2_uc003zhd.2_Missense_Mutation_p.G1098S|SMARCA2_uc010mha.2_Missense_Mutation_p.G1031S	p.G1098S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	23	3391	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1098			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3292G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072442	0.93950	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97042	0.9758	10	0.87932	D	0	-17.4585	19.7949	0.96477	0.0:0.0:1.0:0.0	.	699;1098;1098	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	1098	ENSP00000265773:G1098S;ENSP00000349788:G1098S;ENSP00000371638:G1098S;ENSP00000371629:G1098S	ENSP00000265773:G1098S	G	+	1	0	SMARCA2	2094169	1.000000	0.71417	0.985000	0.45067	0.685000	0.39939	9.813000	0.99286	2.679000	0.91253	0.557000	0.71058	GGC		0.438	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Missense_Mutation
KIAA2026	158358	broad.mit.edu	37	9	5944873	5944874	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:5944873_5944874insT	ENST00000399933.3	-	5	2378_2379	c.2379_2380insA	c.(2377-2382)aaatcgfs	p.S794fs	KIAA2026_ENST00000381461.2_Intron	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	794										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACACCTACCGATTTTTTTCTAC	0.307																																						uc003zjq.3																			0				ovary(2)|central_nervous_system(1)	3						c.(2377-2382)AAATCGfs		hypothetical protein LOC158358																																				SO:0001589	frameshift_variant	158358							g.chr9:5944873_5944874insT	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2380dupA	9.37:g.5944880_5944880dupT	ENSP00000382815:p.Ser794fs					KIAA2026_uc010mht.2_Intron	p.K793fs	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	5	2595_2596	-		Acute lymphoblastic leukemia(23;0.158)	793_794					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	ENST00000399933.3	37	c.2379_2380insA																																																																																					0.307	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
TRPM3	80036	broad.mit.edu	37	9	73152156	73152156	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:73152156G>T	ENST00000377111.2	-	25	4080	c.3837C>A	c.(3835-3837)aaC>aaA	p.N1279K	TRPM3_ENST00000377110.3_Missense_Mutation_p.N1279K|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1138K|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1306K|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1141K|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1128K|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1138K|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1141K|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1151K|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1151K|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1138K|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1283K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1304					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCGGATTTTGTTGGACTCGG	0.627																																						uc004aid.2																			0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3835-3837)AAC>AAA		transient receptor potential cation channel,							81.0	79.0	80.0					9																	73152156		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152156G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3837C>A	9.37:g.73152156G>T	ENSP00000366315:p.Asn1279Lys					TRPM3_uc004ahu.2_Missense_Mutation_p.N1121K|TRPM3_uc004ahv.2_Missense_Mutation_p.N1081K|TRPM3_uc004ahw.2_Missense_Mutation_p.N1151K|TRPM3_uc004ahx.2_Missense_Mutation_p.N1138K|TRPM3_uc004ahy.2_Missense_Mutation_p.N1141K|TRPM3_uc004ahz.2_Missense_Mutation_p.N1128K|TRPM3_uc004aia.2_Missense_Mutation_p.N1126K|TRPM3_uc004aib.2_Missense_Mutation_p.N1116K|TRPM3_uc004aic.2_Missense_Mutation_p.N1279K	p.N1279K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	4081	-			1304			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3837C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.961|8.961	0.970644|0.970644	0.18659|0.18659	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;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;1.01;1.01;1.01|.	6.17|6.17	2.88|2.88	0.33553|0.33553	.|.	0.279246|.	0.39834|.	N|.	0.001241|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.36672|0.36672	1.1|1.1	0.38234|0.38234	D|D	0.941119|0.941119	B;B;B;B;B;B;B;B|.	0.21753|.	0.006;0.005;0.034;0.009;0.004;0.06;0.003;0.029|.	B;B;B;B;B;B;B;B|.	0.25614|.	0.039;0.037;0.062;0.017;0.017;0.029;0.039;0.015|.	T|T	0.41484|0.41484	-0.9506|-0.9506	10|5	0.06365|.	T|.	0.9|.	-21.219|-21.219	9.0252|9.0252	0.36224|0.36224	0.2094:0.1248:0.6659:0.0|0.2094:0.1248:0.6659:0.0	.|.	1279;1279;1269;1283;1141;1138;1251;1138|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|K	1279;1279;1151;1141;1138;1283;1138;1138;1151;1141;1306|1128	ENSP00000366315:N1279K;ENSP00000366314:N1279K;ENSP00000366310:N1151K;ENSP00000354066:N1141K;ENSP00000366309:N1138K;ENSP00000350140:N1283K;ENSP00000386127:N1138K;ENSP00000379581:N1138K;ENSP00000379587:N1151K;ENSP00000350791:N1141K;ENSP00000389542:N1306K|.	ENSP00000350140:N1283K|.	N|Q	-|-	3|1	2|0	TRPM3|TRPM3	72341976|72341976	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.519000|0.519000	0.22862|0.22862	0.905000|0.905000	0.36596|0.36596	0.655000|0.655000	0.94253|0.94253	AAC|CAA		0.627	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TRPM6	140803	broad.mit.edu	37	9	77377948	77377948	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:77377948A>G	ENST00000360774.1	-	26	3876	c.3639T>C	c.(3637-3639)gaT>gaC	p.D1213D	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.D1208D|TRPM6_ENST00000449912.2_Silent_p.D1208D|TRPM6_ENST00000451710.3_Silent_p.D1213D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.D1213D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1213					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGCAGAGAGATCCTGCAGGT	0.463																																						uc004ajl.1																			0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3637-3639)GAT>GAC		transient receptor potential cation channel,							82.0	85.0	84.0					9																	77377948		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377948A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3639T>C	9.37:g.77377948A>G						TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	p.D1213D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	3877	-			1213			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3639T>C	CCDS6647.1																																																																																				0.463	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PCSK5	5125	broad.mit.edu	37	9	78969093	78969093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:78969093C>A	ENST00000545128.1	+	36	5669	c.5131C>A	c.(5131-5133)Ccc>Acc	p.P1711T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1711	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACCTCTGATCCCCCCAGTGC	0.612																																						uc004akc.1																			0											c.(1387-1389)CCC>ACC		Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.							16.0	13.0	14.0					9																	78969093		876	1991	2867	SO:0001583	missense	0							g.chr9:78969093C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5131C>A	9.37:g.78969093C>A	ENSP00000446280:p.Pro1711Thr						p.P463T							9	1607	+								F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1387C>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	4.223	0.040268	0.08148	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.61859	0.07;0.07	5.92	1.23	0.21249	.	0.560189	0.19299	N	0.117693	T	0.47377	0.1442	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.28396	-1.0045	8	0.13108	T	0.6	-6.7724	3.7991	0.08751	0.1153:0.484:0.2268:0.1739	.	.	.	.	T	1711;1441;1411	ENSP00000446280:P1711T;ENSP00000411654:P1411T	ENSP00000365945:P1441T	P	+	1	0	PCSK5	78158913	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	-0.100000	0.10990	0.342000	0.23796	0.561000	0.74099	CCC		0.612	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TTC16	158248	broad.mit.edu	37	9	130489287	130489287	+	Silent	SNP	G	G	T	rs191374012		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:130489287G>T	ENST00000373289.3	+	11	1544	c.1464G>T	c.(1462-1464)tcG>tcT	p.S488S	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|PTRH1_ENST00000419060.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	488										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGGCATGTCGGTGGAGGAGG	0.642																																						uc004brq.1																			0					0						c.(1462-1464)TCG>TCT		tetratricopeptide repeat domain 16							76.0	76.0	76.0					9																	130489287		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130489287G>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1464G>T	9.37:g.130489287G>T						PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	p.S488S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			11	1531	+			488					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1464G>T	CCDS6875.1																																																																																				0.642	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965	
RXRA	6256	broad.mit.edu	37	9	137309139	137309139	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:137309139A>T	ENST00000481739.1	+	5	798	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	RXRA_ENST00000540193.1_Missense_Mutation_p.Y152F|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	249	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	ACCGAGACCTACGTGGAGGCA	0.622																																						uc004cfb.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(745-747)TAC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						145.0	108.0	120.0					9																	137309139		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309139A>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.746A>T	9.37:g.137309139A>T	ENSP00000419692:p.Tyr249Phe					RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	p.Y249F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	5	908	+			249			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.746A>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	7.905	0.735162	0.15574	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.51071	0.72;0.72	4.45	3.3	0.37823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.54908	1.71	0.58432	D	0.999995	B;B	0.11235	0.0;0.004	B;B	0.09377	0.001;0.004	T	0.13926	-1.0491	10	0.13470	T	0.59	.	9.9662	0.41725	0.9177:0.0:0.0823:0.0	.	152;249	B3KY83;P19793	.;RXRA_HUMAN	F	249;152	ENSP00000419692:Y249F;ENSP00000442123:Y152F	ENSP00000419692:Y249F	Y	+	2	0	RXRA	136448960	1.000000	0.71417	0.925000	0.36789	0.085000	0.17905	5.497000	0.66924	0.656000	0.30886	-0.464000	0.05259	TAC		0.622	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957	
DDX53	168400	broad.mit.edu	37	X	23019452	23019452	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:23019452G>T	ENST00000327968.5	+	1	1366	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	426	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGATCCTATGATTGTTTATG	0.373																																						uc004daj.2																			0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1276-1278)ATG>ATT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							127.0	124.0	125.0					X																	23019452		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019452G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1278G>T	X.37:g.23019452G>T	ENSP00000368667:p.Met426Ile						p.M426I	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1366	+			426			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1278G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	6.207	0.406264	0.11754	.	.	ENSG00000184735	ENST00000327968	T	0.04194	3.68	4.17	3.28	0.37604	DEAD-like helicase (2);	0.040415	0.85682	D	0.000000	T	0.02230	0.0069	N	0.00094	-2.165	0.44635	D	0.997615	D	0.76494	0.999	D	0.85130	0.997	T	0.56123	-0.8031	10	0.02654	T	1	-12.6683	10.49	0.44746	0.0:0.0:0.8044:0.1956	.	426	Q86TM3	DDX53_HUMAN	I	426	ENSP00000368667:M426I	ENSP00000368667:M426I	M	+	3	0	DDX53	22929373	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	4.546000	0.60705	0.683000	0.31428	0.600000	0.82982	ATG		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
PIM2	11040	broad.mit.edu	37	X	48775821	48775821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:48775821G>A	ENST00000376509.4	-	2	352	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	55	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						ACCTGGAGTCGATCTGTGAGG	0.652																																						uc004dls.2																			0				lung(3)|stomach(1)	4						c.(163-165)CGA>TGA		serine/threonine protein kinase pim-2							49.0	41.0	44.0					X																	48775821		2203	4300	6503	SO:0001587	stop_gained	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48775821G>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.163C>T	X.37:g.48775821G>A	ENSP00000365692:p.Arg55*						p.R55*	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			2	465	-			55			Protein kinase.		A8K4G6|Q99739	Nonsense_Mutation	SNP	ENST00000376509.4	37	c.163C>T	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	37	6.279009	0.97435	.	.	ENSG00000102096	ENST00000376509	.	.	.	4.67	3.77	0.43336	.	0.087369	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.8103	0.23801	0.0:0.1854:0.6076:0.207	.	.	.	.	X	55	.	ENSP00000365692:R55X	R	-	1	2	PIM2	48660765	1.000000	0.71417	0.981000	0.43875	0.680000	0.39746	1.570000	0.36439	1.031000	0.39867	0.544000	0.68410	CGA		0.652	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		
CSTF2	1478	broad.mit.edu	37	X	100075410	100075410	+	Missense_Mutation	SNP	C	C	T	rs368704847		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:100075410C>T	ENST00000372972.2	+	1	21	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.A2V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGCTATGGCGGGTTTGACT	0.597																																						uc004egh.2																			0				skin(1)	1						c.(4-6)GCG>GTG		cleavage stimulation factor subunit 2							120.0	86.0	98.0					X																	100075410		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100075410C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.5C>T	X.37:g.100075410C>T	ENSP00000362063:p.Ala2Val					CSTF2_uc010nnd.2_Missense_Mutation_p.A2V|CSTF2_uc004egi.2_Missense_Mutation_p.A2V	p.A2V	NM_001325	NP_001316	P33240	CSTF2_HUMAN			1	63	+			2					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.5C>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335816	0.81801	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.15139	2.45;2.49	4.44	4.44	0.53790	.	0.107472	0.64402	D	0.000007	T	0.11196	0.0273	N	0.14661	0.345	0.80722	D	1	P;B;P	0.37548	0.599;0.171;0.561	B;B;B	0.31812	0.136;0.071;0.032	T	0.15093	-1.0449	10	0.72032	D	0.01	-7.0788	16.6695	0.85262	0.0:1.0:0.0:0.0	.	2;2;2	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	2	ENSP00000387996:A2V;ENSP00000362063:A2V	ENSP00000362063:A2V	A	+	2	0	CSTF2	99962066	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.834000	0.62774	2.196000	0.70406	0.600000	0.82982	GCG		0.597	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325	
BCORL1	63035	broad.mit.edu	37	X	129155121	129155121	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129155121G>A	ENST00000218147.7	+	5	3800	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	BCORL1_ENST00000540052.1_Silent_p.E1201E|BCORL1_ENST00000303743.5_Silent_p.E1201E|BCORL1_ENST00000359304.2_Silent_p.E1201E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1201					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						ACAGCCACGAGGAAGGTAGGC	0.637																																						uc004evb.1																			0				ovary(4)|breast(2)|lung(1)	7						c.(3601-3603)GAG>GAA		BCL6 co-repressor-like 1							27.0	28.0	28.0					X																	129155121		2199	4294	6493	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155121G>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.3603G>A	X.37:g.129155121G>A						BCORL1_uc010nrd.1_Silent_p.E1103E	p.E1201E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3717	+			1201					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.3603G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	5.399	0.258843	0.10239	.	.	ENSG00000085185	ENST00000441294	.	.	.	6.17	4.41	0.53225	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56541	-0.7962	4	.	.	.	-20.6852	8.3929	0.32540	0.2357:0.0:0.7643:0.0	.	.	.	.	R	637	.	.	G	+	1	0	BCORL1	128982802	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	1.980000	0.40618	1.354000	0.45846	0.600000	0.82982	GGA		0.637	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
SLC25A14	9016	broad.mit.edu	37	X	129506901	129506901	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129506901C>A	ENST00000218197.5	+	10	1182	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q316K|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q347K	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	319					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACATACGAGCAGCTAAAGAG	0.398																																						uc004evn.1																			0				ovary(1)	1						c.(955-957)CAG>AAG		solute carrier family 25, member 14 isoform							221.0	215.0	217.0					X																	129506901		2203	4300	6503	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129506901C>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.955C>A	X.37:g.129506901C>A	ENSP00000218197:p.Gln319Lys					SLC25A14_uc004evo.1_Missense_Mutation_p.Q140K|SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K|SLC25A14_uc004evr.1_Missense_Mutation_p.Q347K	p.Q319K	NM_003951	NP_003942	O95258	UCP5_HUMAN			11	1168	+			319			Solcar 3.		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.955C>A	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674416	0.67928	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.78246	-1.16;-1.16;-1.16	4.06	4.06	0.47325	Mitochondrial carrier domain (2);	0.138818	0.49916	D	0.000125	D	0.83797	0.5332	L	0.55103	1.725	0.80722	D	1	D;D;D	0.64830	0.994;0.988;0.991	D;D;D	0.72075	0.925;0.96;0.976	D	0.84579	0.0660	10	0.54805	T	0.06	-6.4648	12.5541	0.56244	0.0:1.0:0.0:0.0	.	347;316;319	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	K	319;316;347	ENSP00000218197:Q319K;ENSP00000354455:Q316K;ENSP00000342797:Q347K	ENSP00000218197:Q319K	Q	+	1	0	SLC25A14	129334582	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.075000	0.71261	2.002000	0.58637	0.600000	0.82982	CAG		0.398	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	
FRMD7	90167	broad.mit.edu	37	X	131214270	131214270	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:131214270C>A	ENST00000298542.4	-	10	1105	c.930G>T	c.(928-930)ttG>ttT	p.L310F	FRMD7_ENST00000370879.1_Missense_Mutation_p.L190F|FRMD7_ENST00000464296.1_Missense_Mutation_p.L295F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	310					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCCATATTCCAAAAGTTGCC	0.373																																						uc004ewn.2																			0				skin(1)	1						c.(928-930)TTG>TTT		FERM domain containing 7							139.0	125.0	130.0					X																	131214270		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131214270C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.930G>T	X.37:g.131214270C>A	ENSP00000298542:p.Leu310Phe					FRMD7_uc011muy.1_Missense_Mutation_p.L295F	p.L310F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			10	1108	-	Acute lymphoblastic leukemia(192;0.000127)		310					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.930G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498065	0.44455	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87029	-2.2;-2.2;-2.2	5.6	1.9	0.25705	FERM adjacent (FA) (1);	0.089846	0.47093	D	0.000260	T	0.79112	0.4391	L	0.27053	0.805	0.43207	D	0.995066	P;P	0.43314	0.587;0.803	B;P	0.45343	0.36;0.477	T	0.73477	-0.3970	10	0.62326	D	0.03	.	4.4435	0.11586	0.1467:0.5311:0.0:0.3222	.	295;310	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	F	190;310;295	ENSP00000359916:L190F;ENSP00000298542:L310F;ENSP00000417996:L295F	ENSP00000298542:L310F	L	-	3	2	FRMD7	131041951	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.233000	0.32648	0.183000	0.20059	-0.191000	0.12829	TTG		0.373	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
SPANXN3	139067	broad.mit.edu	37	X	142596854	142596854	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142596854C>T	ENST00000370503.2	-	2	299	c.216G>A	c.(214-216)caG>caA	p.Q72Q	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	72										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGGACTGTTCATTCT	0.388																																						uc004fbw.2																			0				ovary(2)	2						c.(214-216)CAG>CAA		SPANX-N3 protein							196.0	171.0	179.0					X																	142596854		2203	4300	6503	SO:0001819	synonymous_variant	139067							g.chrX:142596854C>T		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.216G>A	X.37:g.142596854C>T							p.Q72Q	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			2	304	-	Acute lymphoblastic leukemia(192;6.56e-05)		72					Q0ZNK4	Silent	SNP	ENST00000370503.2	37	c.216G>A	CCDS35418.1																																																																																				0.388	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
UBE2NL	389898	broad.mit.edu	37	X	142967366	142967366	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967366G>A	ENST00000370494.1	+	1	194	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	55						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R55H(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTTAAACGTGAACTATTA	0.418																																						uc004fca.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(163-165)CGT>CAT		ubiquitin-conjugating enzyme E2N-like							100.0	98.0	99.0					X																	142967366		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967366G>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.164G>A	X.37:g.142967366G>A	ENSP00000359525:p.Arg55His						p.R55H	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	194	+	Acute lymphoblastic leukemia(192;6.56e-05)		55					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.164G>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998892	0.35226	.	.	ENSG00000102069	ENST00000370494	T	0.71817	-0.6	1.1	-0.209	0.13180	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.164354	0.24606	U	0.037096	T	0.42223	0.1193	N	0.08118	0	0.22001	N	0.999425	B	0.28636	0.218	B	0.19946	0.027	T	0.32955	-0.9887	10	0.87932	D	0	1.8896	5.1191	0.14851	0.0:0.0:0.3014:0.6986	.	55	Q5JXB2	UE2NL_HUMAN	H	55	ENSP00000359525:R55H	ENSP00000359525:R55H	R	+	2	0	UBE2NL	142795032	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.918000	0.56432	-0.104000	0.12154	-1.385000	0.01166	CGT		0.418	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
UBE2NL	389898	broad.mit.edu	37	X	142967428	142967428	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967428A>G	ENST00000370494.1	+	1	256	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	76						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACCAAAATTTATCATCC	0.408																																						uc004fca.2																			0					0						c.(226-228)ATT>GTT		ubiquitin-conjugating enzyme E2N-like							88.0	84.0	85.0					X																	142967428		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967428A>G			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.226A>G	X.37:g.142967428A>G	ENSP00000359525:p.Ile76Val						p.I76V	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	256	+	Acute lymphoblastic leukemia(192;6.56e-05)		76					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.226A>G	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	A	6.561	0.471819	0.12461	.	.	ENSG00000102069	ENST00000370494	T	0.74209	-0.82	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43919	U	0.000507	T	0.70596	0.3242	M	0.73319	2.225	0.58432	D	0.999997	B	0.19583	0.037	B	0.33750	0.169	T	0.64368	-0.6424	10	0.39692	T	0.17	-0.005	6.064	0.19854	1.0:0.0:0.0:0.0	.	76	Q5JXB2	UE2NL_HUMAN	V	76	ENSP00000359525:I76V	ENSP00000359525:I76V	I	+	1	0	UBE2NL	142795094	1.000000	0.71417	0.999000	0.59377	0.140000	0.21249	6.305000	0.72805	0.698000	0.31739	0.158000	0.16466	ATT		0.408	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
IRAK1	3654	broad.mit.edu	37	X	153278845	153278845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:153278845C>T	ENST00000369980.3	-	12	1746	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.G448R|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	527					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGCACCCCCGCCACCACT	0.667																																						uc004fjs.1																			0				lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1579-1581)GGG>AGG		interleukin-1 receptor-associated kinase 1							18.0	22.0	21.0					X																	153278845		2155	4194	6349	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated 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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278845C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1579G>A	X.37:g.153278845C>T	ENSP00000358997:p.Gly527Arg					IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R|IRAK1_uc010nur.2_Intron	p.G527R	NM_001569	NP_001560	P51617	IRAK1_HUMAN			12	1658	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		527					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1579G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.41|15.41	2.826560|2.826560	0.50739|0.50739	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974	.|T;T	.|0.74421	.|-0.66;-0.84	5.39|5.39	4.53|4.53	0.55603|0.55603	.|Protein kinase-like domain (1);	0.400122|0.400122	0.21431|0.21431	N|N	0.074641|0.074641	T|T	0.54727|0.54727	0.1876|0.1876	N|N	0.08118|0.08118	0|0	0.22827|0.22827	N|N	0.99868|0.99868	.|B;D	.|0.53619	.|0.023;0.961	.|B;P	.|0.44732	.|0.024;0.459	T|T	0.44483|0.44483	-0.9325|-0.9325	6|10	.|0.25106	.|T	.|0.35	-10.7443|-10.7443	8.9404|8.9404	0.35727|0.35727	0.0:0.8956:0.0:0.1044|0.0:0.8956:0.0:0.1044	.|.	.|448;527	.|P51617-4;P51617	.|.;IRAK1_HUMAN	E|R	82;275|527;448	.|ENSP00000358997:G527R;ENSP00000358991:G448R	.|ENSP00000358991:G448R	G|G	-|-	2|1	0|0	IRAK1|IRAK1	152932039|152932039	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	1.114000|1.114000	0.31196|0.31196	1.045000|1.045000	0.40225|0.40225	0.513000|0.513000	0.50165|0.50165	GGG|GGG		0.667	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
F8	2157	broad.mit.edu	37	X	154225292	154225292	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:154225292A>T	ENST00000360256.4	-	3	544	c.344T>A	c.(343-345)gTc>gAc	p.V115D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	115	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGAAGACTGACAGGATGGGA	0.448																																						uc004fmt.2																			0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM080311	F8	M		c.(343-345)GTC>GAC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						244.0	204.0	218.0					X																	154225292		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154225292A>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.344T>A	X.37:g.154225292A>T	ENSP00000353393:p.Val115Asp					F8_uc011mzx.1_Missense_Mutation_p.V80D	p.V115D	NM_000132	NP_000123	P00451	FA8_HUMAN			3	515	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		115			Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.344T>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.391117	0.62066	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.98978	-5.29;-5.29;-5.29	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.201938	0.42053	D	0.000764	D	0.98905	0.9629	M	0.72479	2.2	0.46317	D	0.998981	D;D	0.76494	0.999;0.961	D;P	0.67900	0.954;0.688	D	0.99537	1.0962	10	0.72032	D	0.01	-10.7563	10.1994	0.43073	1.0:0.0:0.0:0.0	.	80;115	B1B0G8;P00451	.;FA8_HUMAN	D	115;80;109	ENSP00000353393:V115D;ENSP00000409446:V80D;ENSP00000389153:V109D	ENSP00000353393:V115D	V	-	2	0	F8	153878486	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.513000	0.45494	1.674000	0.50907	0.356000	0.21956	GTC		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
