#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
IL22RA1	58985	broad.mit.edu	37	1	24465095	24465095	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:24465095C>T	ENST00000270800.1	-	2	191	c.153G>A	c.(151-153)acG>acA	p.T51T		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	51	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCTGTAGACCGTGTCTGGGG	0.567																																						uc001biq.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(151-153)acG>acA		Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.							106.0	100.0	102.0					1																	24465095		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24465095C>T	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.153G>A	1.37:g.24465095C>T						IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.T51T	p.T51T	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	1	356	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	51			Fibronectin type-III 1.		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.153G>A	CCDS247.1																																																																																				0.567	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1		
PTAFR	5724	broad.mit.edu	37	1	28477494	28477494	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:28477494G>A	ENST00000373857.3	-	2	673	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTAFR_ENST00000305392.3_Silent_p.F13F|PTAFR_ENST00000539896.1_Silent_p.F13F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	13					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGTATCGGAACTCAGAGT	0.527																																						uc009vte.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(37-39)ttC>ttT		Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.							77.0	68.0	71.0					1																	28477494		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477494G>A	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.39C>T	1.37:g.28477494G>A						PTAFR_uc021ojz.1_Silent_p.F13F|PTAFR_uc001bpl.3_Silent_p.F13F|PTAFR_uc001bpm.4_Silent_p.F13F|PTAFR_uc021oka.1_Silent_p.F13F	p.F13F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	374	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	13					A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.39C>T	CCDS318.1																																																																																				0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952	
GLIS1	148979	broad.mit.edu	37	1	53995480	53995480	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:53995480C>T	ENST00000312233.2	-	4	1507	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TAGGTGGGTGCGCTGGTGCTT	0.657																																						uc001cvr.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(940-942)cGc>cAc		Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.							79.0	80.0	80.0					1																	53995480		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995480C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.941G>A	1.37:g.53995480C>T	ENSP00000309653:p.Arg314His						p.R314H	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	1508	-			314						Missense_Mutation	SNP	ENST00000312233.2	37	c.941G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932012	0.92389	.	.	ENSG00000174332	ENST00000312233	T	0.34667	1.35	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000211	T	0.53610	0.1807	M	0.86573	2.825	0.80722	D	1	P	0.47409	0.895	P	0.48030	0.564	T	0.62450	-0.6852	10	0.39692	T	0.17	.	17.7575	0.88453	0.0:1.0:0.0:0.0	.	314	Q8NBF1	GLIS1_HUMAN	H	314	ENSP00000309653:R314H	ENSP00000309653:R314H	R	-	2	0	GLIS1	53768068	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.271000	0.75665	0.491000	0.48974	CGC		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	
ADAM30	11085	broad.mit.edu	37	1	120437661	120437661	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:120437661C>A	ENST00000369400.1	-	1	1457	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACCTGGTTGCAACTTACAAT	0.453																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1297-1299)ttG>ttT		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							184.0	166.0	172.0					1																	120437661		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437661C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1299G>T	1.37:g.120437661C>A	ENSP00000358407:p.Leu433Phe						p.L433F	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	1487	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	433			Disintegrin.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1299G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303009	0.23736	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.17213	2.29	4.82	-2.31	0.06765	Blood coagulation inhibitor, Disintegrin (5);	0.821584	0.09979	N	0.731222	T	0.05547	0.0146	L	0.33624	1.015	0.09310	N	1	B	0.33212	0.402	B	0.41691	0.364	T	0.44390	-0.9331	10	0.34782	T	0.22	.	7.4424	0.27192	0.0948:0.625:0.1852:0.0949	.	433	Q9UKF2	ADA30_HUMAN	F	433	ENSP00000358407:L433F	ENSP00000358407:L433F	L	-	3	2	ADAM30	120239184	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.686000	0.05161	-0.243000	0.09653	0.563000	0.77884	TTG		0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:156126258G>C	ENST00000368285.3	+	3	460	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.D65H|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.D65H	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542																																						uc001fnl.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(193-195)Gac>Cac		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.							115.0	98.0	104.0					1																	156126258		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156126258G>C	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.193G>C	1.37:g.156126258G>C	ENSP00000357268:p.Asp65His					SEMA4A_uc009wrq.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.3_5'UTR|SEMA4A_uc001fno.3_Missense_Mutation_p.D65H	p.D65H	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN			2	372	+	Hepatocellular(266;0.158)		65			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.193G>C	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704119	0.68615	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.83	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.198080	0.43260	D	0.000585	T	0.22936	0.0554	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02075	-1.1218	10	0.32370	T	0.25	.	10.592	0.45314	0.0921:0.0:0.9079:0.0	.	65	Q9H3S1	SEM4A_HUMAN	H	65;65;65;27;27;65;65	ENSP00000401391:D65H;ENSP00000347117:D65H;ENSP00000357268:D65H;ENSP00000392865:D65H;ENSP00000357265:D65H	ENSP00000347117:D65H	D	+	1	0	SEMA4A	154392882	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.689000	0.54706	1.162000	0.42619	0.467000	0.42956	GAC		0.542	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	
ILDR2	387597	broad.mit.edu	37	1	166888604	166888604	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:166888604G>A	ENST00000271417.3	-	10	1963	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	ILDR2_ENST00000526687.1_Silent_p.S528S|ILDR2_ENST00000528703.1_Silent_p.S577S|ILDR2_ENST00000469934.2_Missense_Mutation_p.P412L|ILDR2_ENST00000529071.1_Silent_p.S617S|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000525740.1_Silent_p.S509S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	636					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGACCACAAGGGACATCCTGG	0.438																																						uc001gdx.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1906-1908)tcC>tcT		Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.							84.0	73.0	77.0					1																	166888604		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166888604G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1908C>T	1.37:g.166888604G>A							p.S636S	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			9	1964	-			636						Silent	SNP	ENST00000271417.3	37	c.1908C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255574	0.59321	.	.	ENSG00000143195	ENST00000469934	T	0.55760	0.5	6.02	4.11	0.48088	.	.	.	.	.	T	0.45478	0.1344	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51419	-0.8708	5	0.62326	D	0.03	.	9.567	0.39405	0.0709:0.0:0.778:0.1511	.	.	.	.	L	412	ENSP00000437008:P412L	ENSP00000437008:P412L	P	-	2	0	ILDR2	165155228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.270000	0.43355	0.830000	0.34757	-0.150000	0.13652	CCC		0.438	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351	
PTPRC	5788	broad.mit.edu	37	1	198676014	198676014	+	Silent	SNP	G	G	A	rs137909392	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:198676014G>A	ENST00000367376.2	+	9	1002	c.831G>A	c.(829-831)gcG>gcA	p.A277A	PTPRC_ENST00000348564.6_Silent_p.A118A|PTPRC_ENST00000352140.3_Silent_p.A229A|PTPRC_ENST00000594404.1_Silent_p.A116A|PTPRC_ENST00000442510.2_Silent_p.A279A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	277					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAATGCGTCTGTTTCCA	0.299													G|||	2	0.000399361	0.0	0.0	5008	,	,		18458	0.002		0.0	False		,,,				2504	0.0					uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(829-831)gcG>gcA		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	149.0	154.0	152.0		831,348	-6.0	0.0	1	dbSNP_134	152	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous	PTPRC	NM_002838.3,NM_080921.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	277/1305,116/1144	198676014	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198676014G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.831G>A	1.37:g.198676014G>A						PTPRC_uc001gut.1_Silent_p.A116A|PTPRC_uc009wzf.1_Silent_p.A165A|PTPRC_uc021pgy.1_Silent_p.A231A|PTPRC_uc010ppg.1_Silent_p.A213A	p.A277A	NM_002838	NP_002829	P08575	PTPRC_HUMAN			8	1011	+			277					A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.831G>A																																																																																					0.299	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
LYST	1130	broad.mit.edu	37	1	235938388	235938388	+	Splice_Site	SNP	T	T	A	rs557545474		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:235938388T>A	ENST00000389794.3	-	18	5635		c.e18-2		LYST_ENST00000536965.1_Splice_Site|LYST_ENST00000389793.2_Splice_Site			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAACAACCTAAAAAAAAAA	0.313																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.e18-1		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							58.0	60.0	59.0					1																	235938388		2203	4296	6499	SO:0001630	splice_region_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235938388T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5461-2A>T	1.37:g.235938388T>A						LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site	p.V1821_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		18	5636	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1821					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Splice_Site	SNP	ENST00000389794.3	37	c.5461_splice	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463555	0.43736	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9914	0.71390	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYST	234005011	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	7.655000	0.83696	2.014000	0.59158	0.477000	0.44152	.		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		Intron
OR13G1	441933	broad.mit.edu	37	1	247835982	247835982	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:247835982A>C	ENST00000359688.2	-	1	383	c.362T>G	c.(361-363)gTg>gGg	p.V121G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACAAATGGCCACATAGCGGTC	0.478																																						uc001idi.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(361-363)gTg>gGg		Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.							98.0	82.0	87.0					1																	247835982		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835982A>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.362T>G	1.37:g.247835982A>C	ENSP00000352717:p.Val121Gly						p.V121G	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	362	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		121					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.362T>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387765	0.42308	.	.	ENSG00000197437	ENST00000359688	T	0.00402	7.56	4.2	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.218938	0.23543	N	0.047043	T	0.01320	0.0043	H	0.95365	3.66	0.47476	D	0.999433	D	0.58970	0.984	P	0.58391	0.838	T	0.42965	-0.9420	10	0.87932	D	0	-19.7652	8.3563	0.32331	0.8238:0.0:0.0:0.1762	.	121	Q8NGZ3	O13G1_HUMAN	G	121	ENSP00000352717:V121G	ENSP00000352717:V121G	V	-	2	0	OR13G1	245902605	0.643000	0.27269	0.341000	0.25589	0.326000	0.28443	6.173000	0.71937	0.733000	0.32492	0.460000	0.39030	GTG		0.478	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
PHRF1	57661	broad.mit.edu	37	11	607162	607162	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:607162C>A	ENST00000264555.5	+	14	1834	c.1706C>A	c.(1705-1707)cCg>cAg	p.P569Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.P568Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.P567Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.P565Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	569					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGGAGCCCGGCCCAAGGC	0.662																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1705-1707)cCg>cAg		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							29.0	31.0	30.0					11																	607162		1866	4098	5964	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607162C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1706C>A	11.37:g.607162C>A	ENSP00000264555:p.Pro569Gln					PHRF1_uc010qwc.2_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.2_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.2_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.2_Non-coding_Transcript	p.P569Q	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	1837	+			569					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1706C>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929578	0.34096	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.31	0.273	0.15650	.	0.613895	0.13607	N	0.375397	T	0.72431	0.3459	L	0.38175	1.15	0.09310	N	1	P;D;D;P	0.53151	0.929;0.958;0.958;0.929	P;P;P;P	0.52881	0.519;0.712;0.712;0.519	T	0.61753	-0.6998	10	0.25106	T	0.35	-0.2213	7.7998	0.29168	0.0:0.6981:0.0:0.3019	.	565;567;568;569	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	569;567;568;565	ENSP00000264555:P569Q;ENSP00000388589:P567Q;ENSP00000410626:P568Q;ENSP00000431870:P565Q	ENSP00000264555:P569Q	P	+	2	0	PHRF1	597162	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.007000	0.13174	-0.157000	0.11059	-0.369000	0.07265	CCG		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
SLC3A2	6520	broad.mit.edu	37	11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:62623803G>T	ENST00000377890.2	+	1	230	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G21V|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G21V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G21V|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G21V|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384147.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	21					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.G21V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647																																						uc001nwd.3																			1	Substitution - Missense(1)	p.G21V(2)	lung(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(61-63)gGc>gTc		Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.							101.0	83.0	89.0					11																	62623803		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623803G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.62G>T	11.37:g.62623803G>T	ENSP00000367122:p.Gly21Val					SLC3A2_uc001nwc.3_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.3_Missense_Mutation_p.G21V|SNHG1_uc001nvr.3_5'Flank|SNHG1_uc001nvs.3_5'Flank|SNHG1_uc001nvt.3_5'Flank|SNHG1_uc001nvu.3_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNHG1_uc001nvz.2_5'Flank|SNHG1_uc009yok.1_5'Flank|SNHG1_uc001nwa.4_5'Flank	p.G21V	NM_002394	NP_001013269	P08195	4F2_HUMAN			0	320	+			21					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.62G>T	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132675	0.56828	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;T;D;D;D	0.99466	-5.7;1.95;-5.12;-5.95;-4.95	3.93	2.98	0.34508	.	.	.	.	.	D	0.98121	0.9380	M	0.66506	2.035	0.09310	N	1	B;B;B;B	0.33238	0.02;0.13;0.18;0.403	B;B;B;B	0.27715	0.031;0.051;0.037;0.082	D	0.96306	0.9225	9	0.37606	T	0.19	-0.8992	9.4727	0.38853	0.0:0.2166:0.7834:0.0	.	21;21;21;21	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	V	21	ENSP00000367124:G21V;ENSP00000367123:G21V;ENSP00000367122:G21V;ENSP00000367121:G21V;ENSP00000444236:G21V	ENSP00000367121:G21V	G	+	2	0	SLC3A2	62380379	0.001000	0.12720	0.016000	0.15963	0.018000	0.09664	0.580000	0.23803	0.931000	0.37242	0.313000	0.20887	GGC		0.647	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661	
P2RY2	5029	broad.mit.edu	37	11	72945627	72945627	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:72945627C>T	ENST00000311131.2	+	3	890	c.423C>T	c.(421-423)tcC>tcT	p.S141S	P2RY2_ENST00000393597.2_Silent_p.S141S|P2RY2_ENST00000393596.2_Silent_p.S141S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	141					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCTGCGCTCCCTGCGCTGGG	0.662																																						uc021qna.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(421-423)tcC>tcT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)						60.0	58.0	59.0					11																	72945627		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945627C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.423C>T	11.37:g.72945627C>T						P2RY2_uc001otk.3_Silent_p.S141S|P2RY2_uc001otj.3_Silent_p.S141S|P2RY2_uc001otl.3_Silent_p.S141S	p.S141S	NM_176072	NP_788086	P41231	P2RY2_HUMAN			0	423	+			141					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.423C>T	CCDS8219.1																																																																																				0.662	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
SNX19	399979	broad.mit.edu	37	11	130781567	130781567	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:130781567G>T	ENST00000265909.4	-	2	2343	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.R592S|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.R35S|SNX19_ENST00000530356.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	592	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R592S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCCAGACGGGTCTGCAGA	0.557																																						uc001qgk.4																			1	Substitution - Missense(1)	p.R592S(2)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1774-1776)Cgt>Agt		Homo sapiens sorting nexin 19 (SNX19), mRNA.							116.0	111.0	113.0					11																	130781567		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781567G>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1774C>A	11.37:g.130781567G>T	ENSP00000265909:p.Arg592Ser					SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.R35S|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_Non-coding_Transcript	p.R592S	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	2322	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	592			PX.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1774C>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165367	0.78339	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.39787	1.06;1.06;1.06	5.53	4.53	0.55603	Phox homologous domain (5);	0.054172	0.64402	D	0.000001	T	0.58148	0.2102	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.61686	-0.7012	10	0.87932	D	0	-14.3228	17.6759	0.88230	0.0:0.0:0.8374:0.1626	.	35;592;592	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	S	592;35;592	ENSP00000265909:R592S;ENSP00000443480:R35S;ENSP00000435390:R592S	ENSP00000265909:R592S	R	-	1	0	SNX19	130286777	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	4.728000	0.62000	2.607000	0.88179	0.655000	0.94253	CGT		0.557	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
WNT5B	81029	broad.mit.edu	37	12	1749108	1749108	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:1749108T>C	ENST00000397196.2	+	4	819	c.587T>C	c.(586-588)cTc>cCc	p.L196P	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.L196P|WNT5B_ENST00000537031.1_Missense_Mutation_p.L196P	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	196					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGGGTGCTCATGAACCTG	0.632																																						uc009zdq.3																			0				skin(1)	1						c.(586-588)cTc>cCc		Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.							30.0	36.0	34.0					12																	1749108		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1749108T>C	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.587T>C	12.37:g.1749108T>C	ENSP00000380379:p.Leu196Pro					WNT5B_uc001qjj.3_Missense_Mutation_p.L196P|WNT5B_uc001qjk.3_Missense_Mutation_p.L196P|WNT5B_uc001qjl.3_Missense_Mutation_p.L196P	p.L196P	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	829	+	Ovarian(42;0.107)		196					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.587T>C	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553520	0.45487	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.43	4.43	0.53597	.	0.062767	0.64402	D	0.000003	D	0.89026	0.6598	M	0.91140	3.18	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	D	0.91024	0.4859	9	.	.	.	.	12.8549	0.57880	0.0:0.0:0.0:1.0	.	196	Q9H1J7	WNT5B_HUMAN	P	196	ENSP00000439312:L196P;ENSP00000308887:L196P;ENSP00000380379:L196P;ENSP00000442348:L196P	.	L	+	2	0	WNT5B	1619369	1.000000	0.71417	0.981000	0.43875	0.005000	0.04900	7.874000	0.87199	1.645000	0.50612	0.260000	0.18958	CTC		0.632	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2		
FGD4	121512	broad.mit.edu	37	12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:32791721_32791722insC	ENST00000427716.2	+	16	2459_2460	c.2035_2036insC	c.(2035-2037)gccfs	p.A679fs	FGD4_ENST00000546442.1_Frame_Shift_Ins_p.A586fs|FGD4_ENST00000534526.2_Frame_Shift_Ins_p.A816fs|FGD4_ENST00000266482.3_Frame_Shift_Ins_p.A431fs|FGD4_ENST00000525053.1_Frame_Shift_Ins_p.A791fs|FGD4_ENST00000531134.1_Frame_Shift_Ins_p.A764fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505																																						uc010ske.2																			1	Substitution - Missense(1)	p.A679V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2371-2373)gccfs		Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.																																				SO:0001589	frameshift_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32791721_32791722insC	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2041dupC	12.37:g.32791727_32791727dupC	ENSP00000394487:p.Ala679fs					FGD4_uc001rlc.3_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.3_Frame_Shift_Ins_p.A431fs|FGD4_uc001rkz.3_Frame_Shift_Ins_p.A679fs|FGD4_uc001rla.3_Frame_Shift_Ins_p.A335fs|FGD4_uc001rlb.1_Non-coding_Transcript	p.A791fs	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			15	2455_2456	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		679					Q6ULS2|Q8TCP6	Frame_Shift_Ins	INS	ENST00000427716.2	37	c.2371_2372insC	CCDS8727.1																																																																																				0.505	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
OR8S1	341568	broad.mit.edu	37	12	48921845	48921845	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:48921845G>A	ENST00000310194.1	+	2	1039	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	347						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGGGCCTGCGCATGCTCCGC	0.662																																						uc010slu.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(1039-1041)Gca>Aca		Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.							12.0	15.0	14.0					12																	48921845		2193	4295	6488	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921845G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1039G>A	12.37:g.48921845G>A	ENSP00000310632:p.Ala347Thr						p.A347T	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	1039	+			347						Missense_Mutation	SNP	ENST00000310194.1	37	c.1039G>A	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955182	0.34471	.	.	ENSG00000197376	ENST00000310194	T	0.03689	3.84	0.158	0.158	0.14942	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.48570	-0.9024	8	0.59425	D	0.04	.	.	.	.	.	347	Q8NH09	OR8S1_HUMAN	T	347	ENSP00000310632:A347T	ENSP00000310632:A347T	A	+	1	0	OR8S1	47208112	0.246000	0.23909	0.047000	0.18901	0.048000	0.14542	-0.198000	0.09505	0.202000	0.20498	0.205000	0.17691	GCA		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
SCYL2	55681	broad.mit.edu	37	12	100717360	100717360	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:100717360A>C	ENST00000360820.2	+	11	1890	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	485					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCCATCCATGAAAAACGCTTT	0.318																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1453-1455)Aaa>Caa		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							88.0	86.0	86.0					12																	100717360		2203	4299	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100717360A>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1453A>C	12.37:g.100717360A>C	ENSP00000354061:p.Lys485Gln					SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	p.K485Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			10	1503	+			485					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1453A>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966695	0.92855	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.39406	1.49;1.08	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.62154	1.92	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.58679	-0.7594	10	0.40728	T	0.16	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	485	Q6P3W7	SCYL2_HUMAN	Q	485;312;485	ENSP00000448366:K485Q;ENSP00000354061:K485Q	ENSP00000258506:K312Q	K	+	1	0	SCYL2	99241491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.172000	0.94808	2.289000	0.77006	0.482000	0.46254	AAA		0.318	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
ANO4	121601	broad.mit.edu	37	12	101520784	101520784	+	Missense_Mutation	SNP	G	G	A	rs143188971	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:101520784G>A	ENST00000392977.3	+	27	3014	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	ANO4_ENST00000550015.1_Missense_Mutation_p.R455H|ANO4_ENST00000299222.9_Missense_Mutation_p.R455H|ANO4_ENST00000392979.3_Missense_Mutation_p.R900H			Q32M45	ANO4_HUMAN	anoctamin 4	935					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACTGGAACGTCTCCAGAAG	0.483										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2803-2805)cGt>cAt		Homo sapiens anoctamin 4 (ANO4), mRNA.		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	125.0	95.0	105.0		2699	4.7	1.0	12	dbSNP_134	105	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ANO4	NM_178826.3	29	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	benign	900/921	101520784	6,13000	2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520784G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2804G>A	12.37:g.101520784G>A	ENSP00000376703:p.Arg935His	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	p.R935H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			26	3376	+			935					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2804G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408275	0.42715	6.81E-4	3.49E-4	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69926	-0.44;-0.31;-0.44;-0.31	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	N	0.03608	-0.345	0.51767	D	0.999932	B;B;B	0.19445	0.036;0.02;0.012	B;B;B	0.11329	0.006;0.005;0.006	T	0.30357	-0.9981	10	0.26408	T	0.33	.	14.7409	0.69455	0.0696:0.0:0.9304:0.0	.	455;935;900	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	900;455;935;455	ENSP00000376705:R900H;ENSP00000299222:R455H;ENSP00000376703:R935H;ENSP00000450192:R455H	ENSP00000299222:R455H	R	+	2	0	ANO4	100044915	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.821000	0.55700	1.488000	0.48433	-0.136000	0.14681	CGT		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
RYR3	6263	broad.mit.edu	37	15	33916210	33916210	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:33916210G>A	ENST00000389232.4	+	20	2630	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	RYR3_ENST00000415757.3_Missense_Mutation_p.V854I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	854	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCATGCCCCGTAGACACCAG	0.433																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2560-2562)Gta>Ata		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							143.0	135.0	138.0					15																	33916210		1845	4100	5945	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33916210G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2560G>A	15.37:g.33916210G>A	ENSP00000373884:p.Val854Ile					RYR3_uc010bar.3_Missense_Mutation_p.V854I	p.V854I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	19	2630	+		all_lung(180;7.18e-09)	854			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2560G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383053	0.25031	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90732	-2.72;-2.72	4.86	3.73	0.42828	Ryanodine receptor Ryr (1);	0.192825	0.45361	N	0.000380	T	0.78984	0.4370	N	0.19112	0.55	0.33454	D	0.584027	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.69610	-0.5099	10	0.05959	T	0.93	.	8.1452	0.31108	0.8424:0.0:0.1576:0.0	.	854;854	Q15413-2;Q15413	.;RYR3_HUMAN	I	854	ENSP00000373884:V854I;ENSP00000399610:V854I	ENSP00000354735:V854I	V	+	1	0	RYR3	31703502	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.395000	0.52558	0.866000	0.35629	-0.414000	0.06135	GTA		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
ACAN	176	broad.mit.edu	37	15	89389067	89389067	+	Silent	SNP	C	C	T	rs371505346		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:89389067C>T	ENST00000561243.1	+	6	1383	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ACAN_ENST00000559004.1_Silent_p.L461L|ACAN_ENST00000439576.2_Silent_p.L461L|ACAN_ENST00000558207.1_Silent_p.L461L|ACAN_ENST00000352105.7_Silent_p.L461L			P16112	PGCA_HUMAN	aggrecan	461					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAGGACCTCGTCGTGCAGG	0.652																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1381-1383)ctC>ctT		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		C	,	0,4018		0,0,2009	12.0	14.0	13.0		1383,1383	-2.3	0.6	15		13	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,1,6163	TT,TC,CC		0.012,0.0,0.0081	,	461/2432,461/2531	89389067	1,12327	2009	4155	6164	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89389067C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1383C>T	15.37:g.89389067C>T						ACAN_uc002bmx.3_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_Non-coding_Transcript	p.L461L	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1757	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		461					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.1383C>T	CCDS53970.1																																																																																				0.652	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
MVP	9961	broad.mit.edu	37	16	29858658	29858658	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:29858658A>G	ENST00000357402.5	+	14	2544	c.2406A>G	c.(2404-2406)atA>atG	p.I802M	MVP_ENST00000395353.1_Missense_Mutation_p.I802M	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	802					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAGGCCATAGGCCCCAGCA	0.582																																						uc002dui.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(2404-2406)atA>atG		Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.							58.0	44.0	49.0					16																	29858658		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29858658A>G	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2406A>G	16.37:g.29858658A>G	ENSP00000349977:p.Ile802Met					BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.I802M|MVP_uc010vea.2_Missense_Mutation_p.I396M	p.I802M	NM_005115	NP_059447	Q14764	MVP_HUMAN			13	2558	+			802					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.2406A>G	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710253	0.48517	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35236	1.32;1.32	5.85	3.7	0.42460	.	0.153352	0.46758	D	0.000278	T	0.28928	0.0718	L	0.53671	1.685	0.80722	D	1	B	0.31611	0.331	B	0.29785	0.107	T	0.22800	-1.0206	10	0.72032	D	0.01	-21.5963	4.3056	0.10946	0.0844:0.1535:0.6035:0.1586	.	802	Q14764	MVP_HUMAN	M	802	ENSP00000349977:I802M;ENSP00000378760:I802M	ENSP00000349977:I802M	I	+	3	3	MVP	29766159	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.527000	0.22987	1.478000	0.48253	-0.177000	0.13119	ATA		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115	
ATP6V0D1	9114	broad.mit.edu	37	16	67477041	67477041	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:67477041G>A	ENST00000290949.3	-	4	672	c.522C>T	c.(520-522)gaC>gaT	p.D174D	ATP6V0D1_ENST00000540149.1_Silent_p.D215D|ATP6V0D1_ENST00000602876.1_Silent_p.D97D|ATP6V0D1_ENST00000567694.1_5'Flank	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	174					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTTCATCTCGTCAAGGTCCT	0.567																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(643-645)gaC>gaT		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							163.0	148.0	153.0					16																	67477041		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67477041G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.522C>T	16.37:g.67477041G>A						ATP6V0D1_uc002ete.1_Silent_p.D174D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	p.D215D	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	4	745	-		Ovarian(137;0.0563)	174					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.645C>T	CCDS10838.1																																																																																				0.567	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691	
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10615-10617)Gcg>Acg		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							60.0	56.0	57.0					16																	70908762		1869	4102	5971	SO:0001583	missense	54768							g.chr16:70908762C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10618G>A	16.37:g.70908762C>T	ENSP00000377197:p.Ala3540Thr						p.A3539T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			62	10766	-		Ovarian(137;0.0654)	3540					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10615G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	2.768	-0.256259	0.05829	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.66	0.836	0.18891	.	0.563128	0.13263	U	0.401146	T	0.00440	0.0014	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.17832	T	0.49	.	0.1104	0.00055	0.365:0.2089:0.1834:0.2427	.	3539	F8WD23	.	T	3540;3539	ENSP00000377197:A3540T	ENSP00000313052:A3539T	A	-	1	0	HYDIN	69466263	0.999000	0.42202	0.992000	0.48379	0.039000	0.13416	0.722000	0.25925	0.614000	0.30107	-0.463000	0.05309	GCG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
RABEP1	9135	broad.mit.edu	37	17	5235422	5235422	+	Silent	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:5235422T>G	ENST00000546142.2	+	3	529	c.342T>G	c.(340-342)gtT>gtG	p.V114V	RABEP1_ENST00000262477.6_Silent_p.V114V|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Silent_p.V71V|RABEP1_ENST00000341923.6_Silent_p.V114V|RABEP1_ENST00000408982.2_Silent_p.V114V			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	114					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGAAGAAGTTGCTTCACTTC	0.378																																						uc002gbm.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(340-342)gtT>gtG		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							95.0	91.0	92.0					17																	5235422		1902	4118	6020	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5235422T>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.342T>G	17.37:g.5235422T>G						RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.4_Silent_p.V114V|RABEP1_uc002gbj.3_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	p.V114V	NM_004703	NP_004694	Q15276	RABE1_HUMAN			2	566	+			114					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.342T>G	CCDS45592.1																																																																																				0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
MYH4	4622	broad.mit.edu	37	17	10358985	10358985	+	Missense_Mutation	SNP	C	C	A	rs201207535		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10358985C>A	ENST00000255381.2	-	19	2230	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	707	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCAGATGCGGATGCCTTC	0.468																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2119-2121)cGc>cTc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							78.0	70.0	73.0					17																	10358985		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358985C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2120G>T	17.37:g.10358985C>A	ENSP00000255381:p.Arg707Leu					AK097500_uc002gml.1_Intron	p.R707L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			18	2231	-			707			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2120G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325929	0.81580	.	.	ENSG00000141048	ENST00000255381	T	0.77750	-1.12	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.33813	U	0.004529	D	0.86602	0.5972	H	0.96518	3.835	0.80722	D	1	P	0.38788	0.647	B	0.39738	0.308	D	0.90719	0.4633	10	0.87932	D	0	.	18.5313	0.90993	0.0:1.0:0.0:0.0	.	707	Q9Y623	MYH4_HUMAN	L	707	ENSP00000255381:R707L	ENSP00000255381:R707L	R	-	2	0	MYH4	10299710	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.957000	0.70323	2.445000	0.82738	0.305000	0.20034	CGC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2371-2373)cGa>cAa		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							78.0	80.0	80.0					17																	10408543		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408543C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2372G>A	17.37:g.10408543C>T	ENSP00000226207:p.Arg791Gln					AK097500_uc002gml.1_Intron	p.R791Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			20	2466	-			791			IQ.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2372G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794663	0.50102	.	.	ENSG00000109061	ENST00000226207	T	0.71817	-0.6	5.47	5.47	0.80525	.	0.000000	0.38778	U	0.001569	T	0.64616	0.2614	L	0.40543	1.245	0.40256	D	0.978127	B	0.16166	0.016	B	0.06405	0.002	T	0.58393	-0.7644	10	0.27082	T	0.32	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	791	P12882	MYH1_HUMAN	Q	791	ENSP00000226207:R791Q	ENSP00000226207:R791Q	R	-	2	0	MYH1	10349268	0.000000	0.05858	0.999000	0.59377	0.926000	0.56050	0.400000	0.20932	2.745000	0.94114	0.650000	0.86243	CGA		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
USP22	23326	broad.mit.edu	37	17	20931977	20931977	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:20931977C>T	ENST00000261497.4	-	2	385	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	USP22_ENST00000537526.2_Missense_Mutation_p.C49Y|USP22_ENST00000455117.2_5'UTR	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	61					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ATGGCAGATACAGGACTTGGC	0.517																																						uc002gym.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(181-183)tGt>tAt		Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.							51.0	54.0	53.0					17																	20931977		2059	4207	6266	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20931977C>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.182G>A	17.37:g.20931977C>T	ENSP00000261497:p.Cys61Tyr					USP22_uc002gyn.4_Missense_Mutation_p.C49Y|USP22_uc002gyl.4_5'UTR	p.C61Y	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			1	386	-			61					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.182G>A	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217527	0.58560	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09350	2.99;3.03	4.96	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (1);	0.119193	0.56097	D	0.000024	T	0.18759	0.0450	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.73708	0.981;0.781	T	0.01679	-1.1297	10	0.02654	T	1	.	18.2106	0.89868	0.0:1.0:0.0:0.0	.	49;61	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	Y	129;49;61	ENSP00000440950:C49Y;ENSP00000261497:C61Y	ENSP00000261497:C61Y	C	-	2	0	USP22	20872569	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.881000	0.75584	2.281000	0.76405	0.655000	0.94253	TGT		0.517	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1		
C17orf70	80233	broad.mit.edu	37	17	79517665	79517665	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:79517665T>C	ENST00000327787.8	-	3	901	c.855A>G	c.(853-855)atA>atG	p.I285M	C17orf70_ENST00000537152.1_Missense_Mutation_p.I134M|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	285					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGGCCCCTATGAAGATGA	0.577																																						uc002kaq.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(853-855)atA>atG		Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.							60.0	60.0	60.0					17																	79517665		2203	4300	6503	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517665T>C	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.855A>G	17.37:g.79517665T>C	ENSP00000333283:p.Ile285Met					C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.I134M	p.I285M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		2	928	-	all_neural(118;0.0878)|Melanoma(429;0.242)		285					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.855A>G	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155081	0.38021	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.42900	0.97;0.96	4.2	-7.66	0.01277	.	0.332246	0.28560	N	0.014918	T	0.23886	0.0578	M	0.69823	2.125	0.34842	D	0.740752	P	0.40909	0.732	B	0.31337	0.128	T	0.19224	-1.0312	10	0.87932	D	0	.	0.1404	0.00082	0.3206:0.1936:0.2396:0.2462	.	285	Q0VG06	FP100_HUMAN	M	285;134;134;134	ENSP00000333283:I285M;ENSP00000440151:I134M	ENSP00000333283:I285M	I	-	3	3	C17orf70	77128107	0.001000	0.12720	0.729000	0.30791	0.757000	0.42996	-2.023000	0.01438	-1.957000	0.01021	0.460000	0.39030	ATA		0.577	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161	
LAMA1	284217	broad.mit.edu	37	18	7034562	7034562	+	Missense_Mutation	SNP	C	C	T	rs556604476		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:7034562C>T	ENST00000389658.3	-	14	2060	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	656	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R656H(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGCTGGTCACGATCAATCTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		15965	0.0		0.0	False		,,,				2504	0.001					uc002knm.3																			1	Substitution - Missense(1)	p.R656H(2)	endometrium(1)	NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1966-1968)cGt>cAt		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						158.0	144.0	149.0					18																	7034562		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034562C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1967G>A	18.37:g.7034562C>T	ENSP00000374309:p.Arg656His					LAMA1_uc010wzj.2_Missense_Mutation_p.R132H	p.R656H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			13	2061	-		Colorectal(10;0.172)	656			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1967G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138488	0.77775	.	.	ENSG00000101680	ENST00000389658	T	0.39406	1.08	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.062472	0.64402	D	0.000003	T	0.73164	0.3552	M	0.89534	3.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76173	-0.3056	10	0.54805	T	0.06	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	656	P25391	LAMA1_HUMAN	H	656	ENSP00000374309:R656H	ENSP00000374309:R656H	R	-	2	0	LAMA1	7024562	1.000000	0.71417	0.993000	0.49108	0.242000	0.25591	6.861000	0.75478	2.797000	0.96272	0.655000	0.94253	CGT		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ALPK2	115701	broad.mit.edu	37	18	56202092	56202092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:56202092delT	ENST00000361673.3	-	5	5540	c.5327delA	c.(5326-5328)aagfs	p.K1776fs	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1776						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAAGATGGCTTTTTTGGGTC	0.408																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5326-5328)aagfs		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							205.0	185.0	192.0					18																	56202092		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202092delT	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5327delA	18.37:g.56202092delT	ENSP00000354991:p.Lys1776fs					ALPK2_uc002lhk.1_Frame_Shift_Del_p.K1107fs	p.K1776fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	5541	-			1776					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.5327delA	CCDS11966.2																																																																																				0.408	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
SERPINB7	8710	broad.mit.edu	37	18	61465969	61465969	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:61465969A>G	ENST00000398019.2	+	6	911	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SERPINB7_ENST00000540675.1_Missense_Mutation_p.K179E|SERPINB7_ENST00000546027.1_Missense_Mutation_p.K196E|SERPINB7_ENST00000336429.2_Missense_Mutation_p.K196E	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	196					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCCATTTCAAATCTCCCAA	0.403																																						uc002ljl.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(586-588)Aaa>Gaa		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.							151.0	137.0	142.0					18																	61465969		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465969A>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.586A>G	18.37:g.61465969A>G	ENSP00000381101:p.Lys196Glu					SERPINB7_uc002ljm.3_Missense_Mutation_p.K196E|SERPINB7_uc010xet.2_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.3_Missense_Mutation_p.K196E	p.K196E	NM_001040147	NP_003775	O75635	SPB7_HUMAN			5	682	+		Esophageal squamous(42;0.129)	196					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.586A>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301769	0.40694	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.68	3.2	0.36748	Serpin domain (3);	1.003840	0.08018	N	0.991539	T	0.16685	0.0401	M	0.75264	2.295	0.23445	N	0.997667	B;B	0.27910	0.161;0.193	B;B	0.31442	0.079;0.13	T	0.30765	-0.9967	10	0.41790	T	0.15	.	7.5837	0.27980	0.5889:0.278:0.0:0.1331	.	179;196	F5GZC0;O75635	.;SPB7_HUMAN	E	196;196;179;196	ENSP00000337212:K196E;ENSP00000381101:K196E;ENSP00000444572:K179E;ENSP00000444861:K196E	ENSP00000337212:K196E	K	+	1	0	SERPINB7	59616949	0.004000	0.15560	0.149000	0.22428	0.117000	0.20001	0.887000	0.28254	0.470000	0.27294	0.528000	0.53228	AAA		0.403	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
PALM	5064	broad.mit.edu	37	19	746493	746493	+	Silent	SNP	C	C	T	rs199542927		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:746493C>T	ENST00000338448.5	+	9	889	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Silent_p.G237G	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	281					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CACAGCCAGGCGAGGCCACGT	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		11154	0.001		0.0	False		,,,				2504	0.0					uc002lpm.1																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(841-843)ggC>ggT		Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.							17.0	18.0	18.0					19																	746493		2192	4286	6478	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746493C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.843C>T	19.37:g.746493C>T						PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	p.G281G	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1037	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	281					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.843C>T	CCDS32857.1																																																																																				0.726	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579	
CD97	976	broad.mit.edu	37	19	14513618	14513618	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:14513618G>A	ENST00000242786.5	+	12	1473	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	CD97_ENST00000357355.3_Missense_Mutation_p.A416T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.A372T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	465					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTTTTCGCCTTCTCCCA	0.567																																						uc002myl.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1393-1395)Gcc>Acc		Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.							189.0	158.0	168.0					19																	14513618		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513618G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1393G>A	19.37:g.14513618G>A	ENSP00000242786:p.Ala465Thr					CD97_uc002mym.3_Missense_Mutation_p.A416T|CD97_uc002myn.3_Missense_Mutation_p.A372T	p.A465T	NM_078481	NP_510966	P48960	CD97_HUMAN			11	1773	+			465					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1393G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	3.197	-0.164512	0.06502	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.71579	-0.58;-0.49;-0.11	5.12	-5.04	0.02964	.	.	.	.	.	T	0.45296	0.1335	N	0.08118	0	0.09310	N	1	P;P;B	0.51147	0.901;0.942;0.092	B;P;B	0.50490	0.407;0.642;0.026	T	0.46148	-0.9212	9	0.02654	T	1	.	4.2149	0.10530	0.4374:0.0:0.3131:0.2495	.	372;416;465	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	T	465;416;372;415	ENSP00000242786:A465T;ENSP00000349918:A416T;ENSP00000351413:A372T	ENSP00000242786:A465T	A	+	1	0	CD97	14374618	0.360000	0.24964	0.056000	0.19401	0.249000	0.25844	0.499000	0.22546	-0.868000	0.04058	0.455000	0.32223	GCC		0.567	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
FAM32A	26017	broad.mit.edu	37	19	16301334	16301334	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:16301334A>G	ENST00000263384.7	+	3	245	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_Missense_Mutation_p.M54V|FAM32A_ENST00000588367.1_Intron	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	74	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						TCTCCAGCAAATGGAAAGGAT	0.562																																						uc002ndt.3																			0				lung(1)	1						c.(220-222)Atg>Gtg		Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.							28.0	25.0	26.0					19																	16301334		2203	4300	6503	SO:0001583	missense	26017					nucleolus		g.chr19:16301334A>G	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.220A>G	19.37:g.16301334A>G	ENSP00000263384:p.Met74Val						p.M74V	NM_014077	NP_054796	Q9Y421	FA32A_HUMAN			2	239	+			74			Lys-rich.		Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	c.220A>G	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999689	0.19121	.	.	ENSG00000105058	ENST00000263384	.	.	.	4.41	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	9	0.12766	T	0.61	-29.165	7.9009	0.29734	0.9043:0.0:0.0957:0.0	.	74	Q9Y421	FA32A_HUMAN	V	74	.	ENSP00000263384:M74V	M	+	1	0	FAM32A	16162334	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.677000	0.74503	0.656000	0.30886	0.460000	0.39030	ATG		0.562	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460346.1	NM_014077	
CD22	933	broad.mit.edu	37	19	35832290	35832290	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:35832290G>A	ENST00000085219.5	+	8	1618	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CD22_ENST00000594250.1_Missense_Mutation_p.E341K|CD22_ENST00000536635.2_Missense_Mutation_p.E430K|CD22_ENST00000341773.6_Missense_Mutation_p.E341K|CD22_ENST00000544992.2_Missense_Mutation_p.E518K|CD22_ENST00000270311.6_Missense_Mutation_p.E398K|CD22_ENST00000419549.2_Missense_Mutation_p.E346K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	518	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCTTTCCGAGATTCACTC	0.572																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1552-1554)Gag>Aag		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						38.0	38.0	38.0					19																	35832290		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35832290G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1552G>A	19.37:g.35832290G>A	ENSP00000085219:p.Glu518Lys					CD22_uc010edu.3_Missense_Mutation_p.E430K|CD22_uc010edv.3_Missense_Mutation_p.E518K|CD22_uc002nzb.4_Missense_Mutation_p.E341K|CD22_uc010xst.2_Missense_Mutation_p.E346K|CD22_uc010edx.3_Non-coding_Transcript	p.E518K	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1636	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		518			Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1552G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416580	0.83449	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.37	5.37	0.77165	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111193	0.40728	N	0.001036	T	0.26738	0.0654	L	0.45352	1.415	0.25941	N	0.982873	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;P;D	0.76575	0.964;0.988;0.936;0.829;0.943	T	0.12656	-1.0539	10	0.15066	T	0.55	.	14.605	0.68472	0.0:0.0:1.0:0.0	.	346;518;430;518;341	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	K	518;430;341;518;398;346	ENSP00000085219:E518K;ENSP00000442279:E430K;ENSP00000339349:E341K;ENSP00000441237:E518K;ENSP00000270311:E398K;ENSP00000403822:E346K	ENSP00000085219:E518K	E	+	1	0	CD22	40524130	0.993000	0.37304	0.868000	0.34077	0.008000	0.06430	3.253000	0.51469	2.510000	0.84645	0.561000	0.74099	GAG		0.572	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
HKR1	284459	broad.mit.edu	37	19	37853831	37853831	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:37853831G>A	ENST00000324411.4	+	6	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_ENST00000544914.1_Silent_p.A105A|HKR1_ENST00000589392.1_Silent_p.A360A|HKR1_ENST00000392153.3_Silent_p.A359A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.A317A|HKR1_ENST00000591471.1_Silent_p.A105A	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	378					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532																																						uc002ogb.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1132-1134)gcG>gcA		Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.							90.0	80.0	84.0					19																	37853831		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853831G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1134G>A	19.37:g.37853831G>A						HKR1_uc002ofx.3_Silent_p.A94A|HKR1_uc002ofy.3_Silent_p.A94A|HKR1_uc002oga.3_Silent_p.A360A|HKR1_uc010xto.2_Silent_p.A360A|HKR1_uc002ogc.3_Silent_p.A359A|HKR1_uc010xtp.2_Silent_p.A317A|HKR1_uc002ogd.3_Silent_p.A317A	p.A378A	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1403	+			378					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.1134G>A	CCDS12502.1																																																																																				0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
ACPT	93650	broad.mit.edu	37	19	51295361	51295361	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:51295361G>A	ENST00000270593.1	+	5	482	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	161						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTGTCCCCGATACCACGAG	0.692																																						uc002pta.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(481-483)cGa>cAa		Homo sapiens acid phosphatase, testicular (ACPT), mRNA.							27.0	23.0	24.0					19																	51295361		2196	4293	6489	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295361G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.482G>A	19.37:g.51295361G>A	ENSP00000270593:p.Arg161Gln						p.R161Q	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	482	+		all_neural(266;0.057)	161					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.482G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134676	0.56828	.	.	ENSG00000142513	ENST00000270593	T	0.27557	1.66	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000003	T	0.52240	0.1722	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56535	-0.7963	10	0.72032	D	0.01	-24.8237	12.8365	0.57775	0.0:0.0:1.0:0.0	.	161	Q9BZG2	PPAT_HUMAN	Q	161	ENSP00000270593:R161Q	ENSP00000270593:R161Q	R	+	2	0	ACPT	55987173	0.945000	0.32115	0.204000	0.23530	0.052000	0.14988	4.138000	0.58017	2.178000	0.69098	0.455000	0.32223	CGA		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	
BIRC8	112401	broad.mit.edu	37	19	53794413	53794413	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:53794413G>A	ENST00000426466.1	-	0	462					NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTGTCCACCGTCTCGCGCCA	0.527																																						uc002qbk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19								Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.																																						112401				apoptosis		zinc ion binding	g.chr19:53794413G>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.-786C>T	19.37:g.53794413G>A								NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	0		-								Q6IPY1|Q96RW5	Translation_Start_Site	SNP	ENST00000426466.1	37		CCDS12863.1																																																																																				0.527	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
LILRB2	10288	broad.mit.edu	37	19	54784355	54784355	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs368747484		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:54784355G>A	ENST00000391749.4	-	0	268				LILRB2_ENST00000314446.5_De_novo_Start_OutOfFrame|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_5'Flank|LILRB2_ENST00000434421.1_De_novo_Start_OutOfFrame|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_De_novo_Start_OutOfFrame	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2						cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCATGGCGTCTCCTCCCA	0.592																																						uc002qfb.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	144.0	129.0	134.0		,	-3.2	0.0	19		134	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,utr-5	LILRB2	NM_001080978.2,NM_005874.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	54784355	1,13005	2203	4300	6503			10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54784355G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.-4C>T	19.37:g.54784355G>A						LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_5'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_5'UTR|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank		NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1		-	Ovarian(34;0.19)							A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Translation_Start_Site	SNP	ENST00000391749.4	37		CCDS12886.1																																																																																				0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
HSPBP1	23640	broad.mit.edu	37	19	55776732	55776732	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55776732C>T	ENST00000255631.5	-	8	1229	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	HSPBP1_ENST00000376343.3_Missense_Mutation_p.V205M|HSPBP1_ENST00000587922.1_Missense_Mutation_p.V307M|HSPBP1_ENST00000433386.2_Missense_Mutation_p.V307M	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	310					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCGCGCACACCCTGCGGA	0.657																																						uc002qkd.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(919-921)Gtg>Atg		Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.							67.0	64.0	65.0					19																	55776732		2203	4300	6503	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776732C>T		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.919G>A	19.37:g.55776732C>T	ENSP00000255631:p.Val307Met					HSPBP1_uc002qjx.3_Missense_Mutation_p.V353M|HSPBP1_uc002qkc.3_Missense_Mutation_p.V307M|X05128_uc002qke.3_5'Flank	p.V307M	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1253	-			310					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.919G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.718654	0.30503	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.59502	0.63;0.63;0.26	4.23	3.16	0.36331	Armadillo-like helical (1);Armadillo-type fold (1);	0.320352	0.29473	N	0.012060	T	0.47060	0.1425	L	0.41824	1.3	0.51482	D	0.999924	B;B	0.19706	0.012;0.038	B;B	0.17979	0.014;0.02	T	0.50491	-0.8822	10	0.48119	T	0.1	.	12.0153	0.53311	0.0:0.9046:0.0:0.0954	.	310;353	Q9NZL4;B4DG11	HPBP1_HUMAN;.	M	307;307;205	ENSP00000398244:V307M;ENSP00000255631:V307M;ENSP00000365521:V205M	ENSP00000255631:V307M	V	-	1	0	HSPBP1	60468544	0.697000	0.27767	0.996000	0.52242	0.573000	0.36030	1.185000	0.32065	2.091000	0.63221	0.379000	0.24179	GTG		0.657	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687																																						uc002qkd.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(844-846)cGg>cAg		Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.							18.0	19.0	19.0					19																	55777302		2201	4298	6499	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55777302C>T		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.845G>A	19.37:g.55777302C>T	ENSP00000255631:p.Arg282Gln					HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	p.R282Q	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1179	-			285					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.845G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG		0.687	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
ZSCAN1	284312	broad.mit.edu	37	19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:58564905C>T	ENST00000282326.1	+	6	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	238					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(712-714)cCc>cTc		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.							51.0	54.0	53.0					19																	58564905		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564905C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.713C>T	19.37:g.58564905C>T	ENSP00000282326:p.Pro238Leu						p.P238L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	960	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	238					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.713C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.432558	0.01108	.	.	ENSG00000152467	ENST00000282326	T	0.05199	3.48	0.88	-0.3	0.12804	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46205	-0.9208	9	0.25106	T	0.35	.	8.0551	0.30600	0.0:0.813:0.0:0.187	.	238	Q8NBB4	ZSCA1_HUMAN	L	238	ENSP00000282326:P238L	ENSP00000282326:P238L	P	+	2	0	ZSCAN1	63256717	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.825000	0.01707	-0.664000	0.05324	-1.786000	0.00637	CCC		0.617	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
ITSN2	50618	broad.mit.edu	37	2	24435600	24435600	+	Silent	SNP	C	C	T	rs146758206	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:24435600C>T	ENST00000355123.4	-	33	4451	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	AC009228.1_ENST00000413254.1_RNA|ITSN2_ENST00000361999.3_Silent_p.P1309P|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.P1335P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542													C|||	3	0.000599042	0.0015	0.0	5008	,	,		15496	0.0		0.0	False		,,,				2504	0.001					uc002rfe.2																			1	Substitution - coding silent(1)	p.P1335P(2)|p.R1336R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4006-4008)ccG>ccA		Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.		C	,	11,4395	17.9+/-39.9	0,11,2192	97.0	97.0	97.0		4008,3927	-7.8	0.3	2	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITSN2	NM_006277.2,NM_019595.3	,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,	1336/1698,1309/1671	24435600	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24435600C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4008G>A	2.37:g.24435600C>T						ITSN2_uc002rff.2_Silent_p.P1309P	p.P1336P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			32	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1336			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4008G>A	CCDS1710.2																																																																																				0.542	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756737	+	Intron	DNP	TT	TT	CC			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:54756736_54756737TT>CC	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAGA	0.48																																						uc010yot.1																			0											c.(253-255)ttt>tCC		Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																																				SO:0001627	intron_variant	56969							g.chr2:54756736_54756737TT>CC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	Exception_encountered	2.37:g.54756736_54756737delinsCC						SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S							0	378_379	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	DNP	ENST00000356805.4	37	c.254_255TT>CC	CCDS33198.1																																																																																				0.480	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
ANKRD36C	400986	broad.mit.edu	37	2	96587529	96587529	+	Splice_Site	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:96587529C>G	ENST00000456556.1	-	33	2257		c.e33+1		ANKRD36C_ENST00000420871.2_Splice_Site|ANKRD36C_ENST00000295246.5_Splice_Site|ANKRD36C_ENST00000419039.2_Splice_Site			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C								ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGTTTAATTACCTTCAAGGCT	0.284																																						uc002sva.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.e14+1		Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.																																				SO:0001630	splice_region_variant	400986							g.chr2:96587529C>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2172+1G>C	2.37:g.96587529C>G						ANKRD36C_uc002svc.1_Splice_Site								14		-								C9JZ08|Q15694|Q53S06|Q658V2	Splice_Site	SNP	ENST00000456556.1	37	c.676_splice		.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337613	0.05278	.	.	ENSG00000174501	ENST00000456556	.	.	.	0.564	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.21740	N	0.999568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	AC073995.2	95951256	0.735000	0.28153	0.063000	0.19743	0.032000	0.12392	1.010000	0.29898	0.599000	0.29845	0.194000	0.17425	.		0.284	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914	Intron
ST6GAL2	84620	broad.mit.edu	37	2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A	rs533150647		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R342C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.0					uc002tdq.3																			1	Substitution - Missense(1)	p.R342C(2)|p.I341V(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1024-1026)Cgc>Tgc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							224.0	213.0	217.0					2																	107450522		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450522G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1024C>T	2.37:g.107450522G>A	ENSP00000386942:p.Arg342Cys					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	p.R342C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			2	1143	-			342					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1024C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78924	-1.22;-1.22;-1.22	6.03	6.03	0.97812	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94296	0.7533	10	0.87932	D	0	-37.1524	19.545	0.95291	0.0:0.0:1.0:0.0	.	342;342	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	C	342	ENSP00000355273:R342C;ENSP00000386942:R342C;ENSP00000387332:R342C	ENSP00000355273:R342C	R	-	1	0	ST6GAL2	106816954	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGC		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
GALNT13	114805	broad.mit.edu	37	2	155099239	155099239	+	Silent	SNP	C	C	T	rs187976407		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:155099239C>T	ENST00000392825.3	+	6	1074	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_ENST00000409237.1_Silent_p.Y169Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	169	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y169Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16929	0.0		0.0	False		,,,				2504	0.0					uc002tyt.4																			1	Substitution - coding silent(1)	p.Y169Y(2)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(505-507)taC>taT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.		C		0,4406		0,0,2203	32.0	35.0	34.0		507	0.0	1.0	2		34	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GALNT13	NM_052917.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		169/557	155099239	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099239C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.507C>T	2.37:g.155099239C>T						GALNT13_uc002tyr.4_Silent_p.Y169Y|GALNT13_uc010foc.1_5'UTR	p.Y169Y	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			3	611	+			169			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.507C>T	CCDS2199.1																																																																																				0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
XIRP2	129446	broad.mit.edu	37	2	168105145	168105145	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:168105145A>G	ENST00000409195.1	+	9	7332	c.7243A>G	c.(7243-7245)Aaa>Gaa	p.K2415E	XIRP2_ENST00000409273.1_Missense_Mutation_p.K2193E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2415E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2240					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATAACAGGAAAAACCGGTGT	0.438																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7243-7245)Aaa>Gaa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							69.0	72.0	71.0					2																	168105145		1851	4092	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105145A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7243A>G	2.37:g.168105145A>G	ENSP00000386840:p.Lys2415Glu					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.3_Intron	p.K2415E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7332	+			2240					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7243A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807378	0.31961	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03065	4.06;4.06;4.06	5.67	5.67	0.87782	.	0.185905	0.44285	D	0.000466	T	0.07007	0.0178	M	0.65975	2.015	0.29837	N	0.829527	P;P;P	0.39759	0.56;0.687;0.687	B;B;B	0.42555	0.219;0.391;0.391	T	0.08932	-1.0698	10	0.28530	T	0.3	-31.2585	9.9253	0.41489	0.9204:0.0:0.0796:0.0	.	2240;2240;2193	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	2415;2415;2193	ENSP00000386840:K2415E;ENSP00000295237:K2415E;ENSP00000387255:K2193E	ENSP00000295237:K2415E	K	+	1	0	XIRP2	167813391	0.997000	0.39634	0.973000	0.42090	0.086000	0.17979	3.242000	0.51384	2.164000	0.68074	0.533000	0.62120	AAA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	broad.mit.edu	37	2	179398164	179398164	+	Missense_Mutation	SNP	G	G	A	rs372299779		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:179398164G>A	ENST00000591111.1	-	308	98479	c.98255C>T	c.(98254-98256)aCa>aTa	p.T32752I	TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31825I|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34393I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25328I|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25520I|TTN_ENST00000359218.5_Missense_Mutation_p.T25453I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32752	Ig-like 145.				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)			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)			CCATTTTAATGTTGGTGGGGG	0.463																																						uc021vsy.1																			0				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						c.(95473-95475)aCa>aTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	ILE/THR,ILE/THR,ILE/THR,ILE/THR	0,3898		0,0,1949	62.0	62.0	62.0		75983,95474,76358,76559	5.7	1.0	2		62	1,8293		0,1,4146	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	89,89,89,89	0,1,6095	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25328/26927,31825/33424,25453/27052,25520/27119	179398164	1,12191	1949	4147	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398164G>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.98255C>T	2.37:g.179398164G>A	ENSP00000465570:p.Thr32752Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25520I|TTN_uc021vta.1_Missense_Mutation_p.T25453I|TTN_uc021vtb.1_Missense_Mutation_p.T25328I	p.T31825I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	95699	-			32752			Fibronectin type-III 131.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.95474C>T		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471973	0.63737	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79452	0.4448	M	0.64630	1.985	0.47374	D	0.999409	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.61658	0.892;0.892;0.892;0.892	T	0.80509	-0.1351	9	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	25328;25453;25520;32752	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	31825;25328;25520;25453;25325	ENSP00000343764:T31825I;ENSP00000434586:T25328I;ENSP00000340554:T25520I;ENSP00000352154:T25453I	ENSP00000340554:T25520I	T	-	2	0	TTN	179106410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.651000	0.61447	2.712000	0.92718	0.561000	0.74099	ACA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
AGXT	189	broad.mit.edu	37	2	241808307	241808308	+	Frame_Shift_Ins	INS	-	-	C	rs398122322|rs115014558|rs180177205|rs180177201	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:241808307_241808308insC	ENST00000307503.3	+	1	412_413	c.25_26insC	c.(25-27)accfs	p.T9fs		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	9			T -> N (in HP1). {ECO:0000269|PubMed:15849466, ECO:0000269|PubMed:15961946}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GCTGCTGGTGACCCCCCCCAAG	0.663																																						uc002waa.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18	GRCh37	CM056286	AGXT	M	rs115014558	c.(25-27)accfs		Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808307_241808308insC	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.33dupC	2.37:g.241808315_241808315dupC	ENSP00000302620:p.Thr9fs					AGXT_uc010zoi.1_Frame_Shift_Ins_p.T9fs	p.T9fs	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	0	146_147	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	9		T -> N (in HP1).			Q53QU6	Frame_Shift_Ins	INS	ENST00000307503.3	37	c.25_26insC	CCDS2543.1																																																																																				0.663	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	
MYBL2	4605	broad.mit.edu	37	20	42331498	42331498	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr20:42331498G>A	ENST00000217026.4	+	8	1447	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	MYBL2_ENST00000396863.4_Silent_p.T416T	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	440					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCCTCACGCCCAAGAGCA	0.582																																						uc002xlb.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1318-1320)acG>acA		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.							134.0	108.0	117.0					20																	42331498		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331498G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1320G>A	20.37:g.42331498G>A						MYBL2_uc010zwj.1_Silent_p.T416T	p.T440T	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	1535	+		Myeloproliferative disorder(115;0.00452)	440					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1320G>A	CCDS13322.1																																																																																				0.582	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
CCT8L2	150160	broad.mit.edu	37	22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:17072504C>T	ENST00000359963.3	-	1	1196	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	313					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.V313M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557																																						uc002zlp.1																			1	Substitution - Missense(1)	p.V313M(2)	large_intestine(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(937-939)Gtg>Atg		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.							197.0	174.0	182.0					22																	17072504		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072504C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.937G>A	22.37:g.17072504C>T	ENSP00000353048:p.Val313Met						p.V313M	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1197	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	313					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.937G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.124215	0.00031	.	.	ENSG00000198445	ENST00000359963	T	0.74421	-0.84	1.98	0.869	0.19096	.	0.138719	0.32719	N	0.005730	T	0.26738	0.0654	N	0.00121	-2.07	0.21256	N	0.999747	B	0.17667	0.023	B	0.06405	0.002	T	0.42515	-0.9447	10	0.15499	T	0.54	-26.8196	3.695	0.08361	0.0:0.2182:0.0:0.7818	.	313	Q96SF2	TCPQM_HUMAN	M	313	ENSP00000353048:V313M	ENSP00000353048:V313M	V	-	1	0	CCT8L2	15452504	0.985000	0.35326	0.959000	0.39883	0.033000	0.12548	0.049000	0.14099	0.063000	0.16370	-0.552000	0.04208	GTG		0.557	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
CHEK2	11200	broad.mit.edu	37	22	29083951	29083951	+	Silent	SNP	G	G	A	rs202104749		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:29083951G>A	ENST00000405598.1	-	16	1757	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	CHEK2_ENST00000402731.1_Silent_p.P493P|CHEK2_ENST00000403642.1_Silent_p.P431P|CHEK2_ENST00000382578.1_Silent_p.P431P|CHEK2_ENST00000404276.1_Silent_p.P522P|CHEK2_ENST00000348295.3_Silent_p.P493P|CHEK2_ENST00000544772.1_Silent_p.P301P|CHEK2_ENST00000382580.2_Silent_p.P565P|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Silent_p.P142P|CHEK2_ENST00000328354.6_Silent_p.P522P			O96017	CHK2_HUMAN	checkpoint kinase 2	522					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCCTTCACGGGGCCGCTTTC	0.453			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1564-1566)ccC>ccT	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.							34.0	38.0	36.0					22																	29083951		1354	2297	3651	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29083951G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1566C>T	22.37:g.29083951G>A						CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.P301P|CHEK2_uc010gvh.1_Silent_p.P431P|CHEK2_uc010gvi.1_Silent_p.P371P|CHEK2_uc003adt.1_Silent_p.P565P|CHEK2_uc003adv.1_Silent_p.P493P|CHEK2_uc003adx.1_Silent_p.P301P	p.P522P	NM_007194	NP_009125	O96017	CHK2_HUMAN			14	1638	-			522					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.1566C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	8.644	0.896712	0.17686	.	.	ENSG00000183765	ENST00000434810;ENST00000456369	T;T	0.70282	0.24;-0.47	4.76	-0.22	0.13130	.	0.962882	0.08647	N	0.914640	T	0.52224	0.1721	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	T	0.37150	-0.9718	7	0.19590	T	0.45	-24.6538	5.7082	0.17921	0.2224:0.153:0.6246:0.0	.	.	.	.	L	255;123	ENSP00000416721:P255L;ENSP00000394430:P123L	ENSP00000416721:P255L	P	-	2	0	CHEK2	27413951	0.002000	0.14202	0.189000	0.23252	0.279000	0.26890	-0.004000	0.12878	-0.158000	0.11040	0.557000	0.71058	CCC		0.453	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
CHEK2	11200	broad.mit.edu	37	22	29083962	29083962	+	Missense_Mutation	SNP	G	G	C	rs200432447		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:29083962G>C	ENST00000405598.1	-	16	1746	c.1555C>G	c.(1555-1557)Cga>Gga	p.R519G	CHEK2_ENST00000402731.1_Missense_Mutation_p.R490G|CHEK2_ENST00000403642.1_Missense_Mutation_p.R428G|CHEK2_ENST00000382578.1_Missense_Mutation_p.R428G|CHEK2_ENST00000404276.1_Missense_Mutation_p.R519G|CHEK2_ENST00000348295.3_Missense_Mutation_p.R490G|CHEK2_ENST00000544772.1_Missense_Mutation_p.R298G|CHEK2_ENST00000382580.2_Missense_Mutation_p.R562G|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Missense_Mutation_p.R139G|CHEK2_ENST00000328354.6_Missense_Mutation_p.R519G			O96017	CHK2_HUMAN	checkpoint kinase 2	519					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R519G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCCGCTTTCGACTAGTAGAA	0.463			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			1	Substitution - Missense(1)	p.R519G(2)	kidney(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1555-1557)Cga>Gga	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.							29.0	33.0	31.0					22																	29083962		1350	2291	3641	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29083962G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1555C>G	22.37:g.29083962G>C	ENSP00000386087:p.Arg519Gly					CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G	p.R519G	NM_007194	NP_009125	O96017	CHK2_HUMAN			14	1627	-			519					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1555C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585428	0.46110	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T;T	0.70631	0.76;-0.23;-0.5;-0.22;-0.23;-0.23;-0.23;-0.19;-0.23;0.76	4.76	3.66	0.41972	.	0.218383	0.36374	N	0.002628	T	0.56001	0.1956	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B	0.18013	0.025;0.001;0.001;0.001;0.005;0.021	B;B;B;B;B;B	0.19391	0.011;0.002;0.002;0.005;0.007;0.025	T	0.58267	-0.7666	10	0.62326	D	0.03	-15.2329	9.7291	0.40350	0.0:0.0:0.7938:0.2062	.	428;298;519;490;519;562	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	G	490;428;139;202;298;519;519;519;562;428;490	ENSP00000329012:R490G;ENSP00000372021:R428G;ENSP00000372006:R139G;ENSP00000442458:R298G;ENSP00000329178:R519G;ENSP00000385747:R519G;ENSP00000386087:R519G;ENSP00000372023:R562G;ENSP00000384919:R428G;ENSP00000384835:R490G	ENSP00000329178:R519G	R	-	1	2	CHEK2	27413962	0.824000	0.29247	0.986000	0.45419	0.937000	0.57800	1.299000	0.33424	2.351000	0.79841	0.557000	0.71058	CGA		0.463	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
FBLN2	2199	broad.mit.edu	37	3	13659763	13659763	+	Silent	SNP	C	C	T	rs200610728		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:13659763C>T	ENST00000295760.7	+	6	1986	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FBLN2_ENST00000404922.3_Silent_p.D639D|FBLN2_ENST00000535798.1_Silent_p.D665D|FBLN2_ENST00000492059.1_Silent_p.D639D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	639	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGCAGGACGATGGCCGCA	0.612													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19453	0.0		0.0	False		,,,				2504	0.0					uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1915-1917)gaC>gaT		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							71.0	73.0	72.0					3																	13659763		2046	4185	6231	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659763C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1917C>T	3.37:g.13659763C>T						FBLN2_uc011auz.2_Silent_p.D665D|FBLN2_uc011avb.2_Silent_p.D639D|FBLN2_uc011ava.2_Silent_p.D639D	p.D639D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		5	2299	+			639			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1917C>T	CCDS46762.1																																																																																				0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGGTAATGACGCTAAAATCC	0.458																																						uc003ciq.3																			1	Substitution - Missense(1)	p.V196I(2)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(586-588)Gtc>Atc		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						169.0	161.0	163.0					3																	38812783		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812783C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.586G>A	3.37:g.38812783C>T	ENSP00000390600:p.Val196Ile						p.V196I	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	3	586	-			196					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.586G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513523	0.85389	.	.	ENSG00000185313	ENST00000449082	D	0.98567	-5.0	5.15	5.15	0.70609	Ion transport (1);	0.061365	0.64402	D	0.000004	D	0.98429	0.9477	L	0.48935	1.535	0.49051	D	0.999744	D	0.89917	1.0	D	0.83275	0.996	D	0.99879	1.1109	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	196	Q9Y5Y9	SCNAA_HUMAN	I	196	ENSP00000390600:V196I	ENSP00000390600:V196I	V	-	1	0	SCN10A	38787787	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.317000	0.79018	2.665000	0.90641	0.655000	0.94253	GTC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
RHOA	387	broad.mit.edu	37	3	49395545	49395545	+	IGR	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:49395545T>G	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.Y56S|GPX1_ENST00000419349.1_Missense_Mutation_p.Y56S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATCTGGGTGTAGTCCCGGAC	0.692																																						uc021wxw.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(166-168)tAc>tCc		Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	Glutathione(DB00143)						15.0	18.0	17.0					3																	49395545		1928	4108	6036	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395545T>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395545T>G						GPX1_uc021wxx.1_Missense_Mutation_p.Y56S	p.Y56S	NM_000581	NP_000572	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	247	-			56					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.167A>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416286	0.83449	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.16597	2.33;2.33	5.88	3.42	0.39159	Thioredoxin-like fold (2);	0.000000	0.31167	U	0.008128	T	0.45736	0.1357	H	0.97240	3.965	0.80722	D	1	P;P	0.46859	0.885;0.866	P;P	0.51701	0.677;0.574	T	0.56866	-0.7908	10	0.87932	D	0	.	10.0556	0.42244	0.3847:0.0:0.0:0.6153	.	56;56	E9PAS1;P07203	.;GPX1_HUMAN	S	56	ENSP00000407375:Y56S;ENSP00000391316:Y56S	ENSP00000391316:Y56S	Y	-	2	0	GPX1	49370549	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.992000	0.29667	0.441000	0.26529	0.454000	0.30748	TAC		0.692	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
KIAA1407	57577	broad.mit.edu	37	3	113684122	113684122	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:113684122C>T	ENST00000295878.3	-	17	2837	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	897										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACGAAGTTGCTGTCGCCTTT	0.408																																						uc003eax.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2689-2691)caG>caA		Homo sapiens KIAA1407 (KIAA1407), mRNA.							145.0	149.0	148.0					3																	113684122		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684122C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2691G>A	3.37:g.113684122C>T							p.Q897Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			16	2838	-			897					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2691G>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	8.219	0.802044	0.16397	.	.	ENSG00000184307	ENST00000496083	.	.	.	5.68	-0.56	0.11789	.	.	.	.	.	T	0.59959	0.2232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59397	-0.7462	5	0.87932	D	0	.	6.8346	0.23929	0.0:0.3941:0.2186:0.3873	.	.	.	.	V	64	.	ENSP00000417579:A64V	A	+	2	0	ZDHHC23	115166812	0.879000	0.30193	0.040000	0.18447	0.193000	0.23685	-0.090000	0.11163	-0.153000	0.11137	-0.142000	0.14014	GCT		0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
RAB43	339122	broad.mit.edu	37	3	128813923	128813923	+	Silent	SNP	G	G	A	rs145101068		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:128813923G>A	ENST00000315150.5	-	2	594	c.294C>T	c.(292-294)taC>taT	p.Y98Y	RAB43_ENST00000393307.1_Silent_p.Y98Y|RAB43_ENST00000393304.1_Silent_p.Y98Y|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.T314M|RAB43_ENST00000393308.1_Silent_p.Y98Y|RAB43_ENST00000476465.1_Silent_p.Y98Y|RAB43_ENST00000393305.1_Silent_p.Y98Y	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	98					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGGTGATGTCGTAGGCAAGGA	0.572																																						uc003eln.2																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(292-294)taC>taT		Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.		G	,,,,,stop/ARG,MET/THR,	0,4404		0,0,2202	92.0	81.0	85.0		294,294,294,294,294,280,941,294	-4.1	0.2	3	dbSNP_134	85	1,8555	1.2+/-3.3	0,1,4277	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,stop-gained,missense,coding-synonymous	RAB43,ISY1-RAB43	NM_001204883.1,NM_001204884.1,NM_001204885.1,NM_001204886.1,NM_001204887.1,NM_001204888.1,NM_001204890.1,NM_198490.2	,,,,,,81,	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	,,,,,,,	98/213,98/213,98/213,98/213,98/156,94/109,314/332,98/213	128813923	1,12959	2202	4278	6480	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128813923G>A	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.294C>T	3.37:g.128813923G>A						ISY1-RAB43_uc003elo.2_Missense_Mutation_p.T314M|RAB43_uc021xdo.1_Nonsense_Mutation_p.R94*|RAB43_uc010hsy.2_Silent_p.Y98Y|RAB43_uc021xdp.1_Silent_p.Y98Y|RAB43_uc021xdq.1_Silent_p.Y98Y|RAB43_uc021xdr.1_Silent_p.Y98Y|RAB43_uc021xds.1_Silent_p.Y98Y	p.Y98Y	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN			1	609	-			98					A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	c.294C>T	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002447	0.35320	0.0	1.17E-4	ENSG00000240682	ENST00000418265	.	.	.	4.43	-4.1	0.03940	.	0.731136	0.11404	N	0.567443	T	0.34571	0.0902	.	.	.	0.24518	N	0.994177	B	0.06786	0.001	B	0.04013	0.001	T	0.27905	-1.0060	8	0.87932	D	0	.	11.4761	0.50300	0.6532:0.0:0.3468:0.0	.	314	Q9ULR0-1	.	M	314	.	ENSP00000411822:T314M	T	-	2	0	ISY1	130296613	0.034000	0.19679	0.204000	0.23530	0.982000	0.71751	-0.498000	0.06420	-0.938000	0.03714	-0.444000	0.05651	ACG		0.572	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714	
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
SPON2	10417	broad.mit.edu	37	4	1161329	1161329	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:1161329G>A	ENST00000290902.5	-	6	1259	c.927C>T	c.(925-927)ccC>ccT	p.P309P	SPON2_ENST00000431380.1_Silent_p.P309P|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	309	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGTTGTTGGCGGGCTGGACCC	0.682											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gco.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(925-927)ccC>ccT		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.							58.0	63.0	61.0					4																	1161329		2203	4300	6503	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1161329G>A	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.927C>T	4.37:g.1161329G>A			OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	SPON2_uc021xkj.1_Silent_p.P309P|SPON2_uc010ibr.3_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	p.P309P	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	1256	-			309			TSP type-1.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.927C>T	CCDS3347.1																																																																																				0.682	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2		
MSANTD1	345222	broad.mit.edu	37	4	3251162	3251162	+	Silent	SNP	C	C	T	rs143238822		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:3251162C>T	ENST00000438480.2	+	1	1960	c.213C>T	c.(211-213)aaC>aaT	p.N71N	MSANTD1_ENST00000510580.1_Silent_p.N71N|MSANTD1_ENST00000507492.1_Silent_p.N58N	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	71	Myb-like.									endometrium(1)|lung(2)	3						CCAAGCGCAACGCCAAGGTGT	0.612																																						uc003ggs.3																			0				endometrium(1)|lung(2)	3						c.(211-213)aaC>aaT		Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.		C		2,4398	4.2+/-10.8	0,2,2198	45.0	44.0	44.0		213	-1.2	1.0	4	dbSNP_134	44	0,8598		0,0,4299	no	coding-synonymous	C4orf44	NM_001042690.1		0,2,6497	TT,TC,CC		0.0,0.0455,0.0154		71/279	3251162	2,12996	2200	4299	6499	SO:0001819	synonymous_variant	345222							g.chr4:3251162C>T		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.213C>T	4.37:g.3251162C>T							p.N71N	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN			0	396	+			71					C9J6V0	Silent	SNP	ENST00000438480.2	37	c.213C>T	CCDS47003.1																																																																																				0.612	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982	
HS3ST1	9957	broad.mit.edu	37	4	11401289	11401289	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:11401289T>C	ENST00000002596.5	-	2	1515	c.341A>G	c.(340-342)cAg>cGg	p.Q114R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	114					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACTGTGAGCTGGTGTGGCCA	0.617																																						uc003gmq.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(340-342)cAg>cGg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.							78.0	75.0	76.0					4																	11401289		2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401289T>C	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.341A>G	4.37:g.11401289T>C	ENSP00000002596:p.Gln114Arg					HS3ST1_uc021xmg.1_Missense_Mutation_p.Q114R	p.Q114R	NM_005114	NP_005105	O14792	HS3S1_HUMAN			1	664	-			114					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.341A>G	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642609	0.87859	.	.	ENSG00000002587	ENST00000002596	T	0.54675	0.56	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.80508	2.5	0.80722	D	1	P	0.47545	0.897	P	0.47626	0.552	T	0.68352	-0.5431	10	0.51188	T	0.08	.	15.283	0.73801	0.0:0.0:0.0:1.0	.	114	O14792	HS3S1_HUMAN	R	114	ENSP00000002596:Q114R	ENSP00000002596:Q114R	Q	-	2	0	HS3ST1	11010387	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.997000	0.88414	2.254000	0.74563	0.533000	0.62120	CAG		0.617	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
GRSF1	2926	broad.mit.edu	37	4	71691907	71691907	+	Silent	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:71691907C>A	ENST00000254799.6	-	7	1308	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	GRSF1_ENST00000545193.1_Silent_p.T279T|GRSF1_ENST00000439371.1_Silent_p.T235T|GRSF1_ENST00000502323.1_Silent_p.T235T|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	397					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCAGAGAAGACGTAGTTCCAA	0.423																																						uc010iia.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1189-1191)acG>acT		Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.							89.0	87.0	87.0					4																	71691907		1865	4115	5980	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691907C>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1191G>T	4.37:g.71691907C>A						GRSF1_uc011caz.1_Silent_p.T279T|GRSF1_uc003hfs.2_Silent_p.T235T	p.T397T	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1274	-		all_hematologic(202;0.21)	397					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.1191G>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.245576	0.01481	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.94	-3.69	0.04450	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	1.3035	0.0734	0.00024	0.2777:0.1863:0.2405:0.2956	.	.	.	.	L	334	.	.	R	-	2	0	GRSF1	71910771	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.844000	0.00736	-1.342000	0.02222	-0.894000	0.02916	CGT		0.423	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092	
TET2	54790	broad.mit.edu	37	4	106155901	106155901	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:106155901T>G	ENST00000540549.1	+	3	1662	c.802T>G	c.(802-804)Tcg>Gcg	p.S268A	TET2_ENST00000545826.1_Missense_Mutation_p.S268A|TET2_ENST00000513237.1_Missense_Mutation_p.S289A|TET2_ENST00000380013.4_Missense_Mutation_p.S268A|TET2_ENST00000413648.2_Missense_Mutation_p.S268A|TET2_ENST00000305737.2_Missense_Mutation_p.S268A|TET2_ENST00000394764.1_Missense_Mutation_p.S268A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	268					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTCACCCATCGCATACCTC	0.498			"""Mis N, F"""		MDS																																	uc011cez.2				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0		p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(865-867)Tcg>Gcg		Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.							95.0	86.0	89.0					4																	106155901		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155901T>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.802T>G	4.37:g.106155901T>G	ENSP00000442788:p.Ser268Ala					TET2_uc003hxk.3_Missense_Mutation_p.S268A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268A|TET2_uc010ilp.2_Missense_Mutation_p.S268A|TET2_uc021xql.1_Missense_Mutation_p.S268A	p.S289A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	2	1270	+		Myeloproliferative disorder(5;0.0393)	268					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.865T>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777920	0.31502	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.08282	3.11;3.96;3.11;3.95;3.96;3.11;3.14	4.95	2.46	0.29980	.	13.425500	0.00834	U	0.001685	T	0.09379	0.0231	L	0.34521	1.04	0.23972	N	0.996303	B;B;B	0.17038	0.007;0.007;0.02	B;B;B	0.16722	0.007;0.007;0.016	T	0.33624	-0.9861	10	0.48119	T	0.1	.	6.9275	0.24424	0.0:0.0789:0.1506:0.7705	.	289;268;268	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	A	268;268;268;289;268;268;268;268	ENSP00000306705:S268A;ENSP00000442788:S268A;ENSP00000442867:S268A;ENSP00000425443:S289A;ENSP00000369351:S268A;ENSP00000378245:S268A;ENSP00000391448:S268A	ENSP00000265149:S268A	S	+	1	0	TET2	106375350	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	2.124000	0.42006	0.245000	0.21373	0.533000	0.62120	TCG		0.498	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
ACSL1	2180	broad.mit.edu	37	4	185681554	185681554	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:185681554C>G	ENST00000515030.1	-	18	2064	c.1739G>C	c.(1738-1740)aGt>aCt	p.S580T	ACSL1_ENST00000281455.2_Missense_Mutation_p.S580T|ACSL1_ENST00000454703.2_Missense_Mutation_p.S409T|ACSL1_ENST00000507295.1_Missense_Mutation_p.S546T|ACSL1_ENST00000504342.1_Missense_Mutation_p.S580T|ACSL1_ENST00000513317.1_Missense_Mutation_p.S580T|ACSL1_ENST00000437665.3_Missense_Mutation_p.S409T			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	580					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGGCTCACTTCGCATGTA	0.443																																						uc003iww.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1738-1740)aGt>aCt		Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						277.0	291.0	286.0					4																	185681554		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681554C>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1739G>C	4.37:g.185681554C>G	ENSP00000422607:p.Ser580Thr					ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	p.S580T	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	17	2033	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	580					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1739G>C	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675028	0.67928	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.55	5.55	0.83447	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.55385	0.971;0.971;0.971;0.964	P;P;P;P	0.58577	0.706;0.841;0.841;0.692	T	0.35201	-0.9798	10	0.42905	T	0.14	-20.2077	19.5066	0.95118	0.0:1.0:0.0:0.0	.	546;580;580;570	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	T	409;580;176;580;546;409;580;580	ENSP00000407165:S409T;ENSP00000422607:S580T;ENSP00000425098:S176T;ENSP00000281455:S580T;ENSP00000426244:S546T;ENSP00000405687:S409T;ENSP00000425006:S580T;ENSP00000426150:S580T	ENSP00000281455:S580T	S	-	2	0	ACSL1	185918548	1.000000	0.71417	0.984000	0.44739	0.088000	0.18126	7.654000	0.83653	2.612000	0.88384	0.655000	0.94253	AGT		0.443	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
DROSHA	29102	broad.mit.edu	37	5	31508865	31508865	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:31508865C>T	ENST00000511367.2	-	9	1694	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DROSHA_ENST00000513349.1_Missense_Mutation_p.E447K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E447K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E484K|Y_RNA_ENST00000383955.1_RNA	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	484					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GACTCACACTCGGATTCACTG	0.443																																						uc003jhg.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1450-1452)Gag>Aag		Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.							68.0	62.0	64.0					5																	31508865		1864	4095	5959	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31508865C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1450G>A	5.37:g.31508865C>T	ENSP00000425979:p.Glu484Lys					DROSHA_uc003jhh.2_Missense_Mutation_p.E447K|DROSHA_uc003jhi.2_Missense_Mutation_p.E447K|DROSHA_uc010iui.1_Missense_Mutation_p.E407K	p.E484K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			8	1809	-			484					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1450G>A	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.229924|3.229924	0.58777|0.58777	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.43688|.	1.52;1.52;0.94;0.94|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.100149|.	0.64402|.	D|.	0.000002|.	T|T	0.58680|0.58680	0.2139|0.2139	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;P;B|.	0.44946|.	0.053;0.846;0.176|.	B;B;B|.	0.31191|.	0.005;0.125;0.013|.	T|T	0.53222|0.53222	-0.8469|-0.8469	10|5	0.11182|.	T|.	0.66|.	-22.7924|-22.7924	19.0753|19.0753	0.93159|0.93159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416;447;484|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	K|Q	484;484;447;447;409;440|245	ENSP00000425979:E484K;ENSP00000339845:E484K;ENSP00000409335:E447K;ENSP00000424161:E447K|.	ENSP00000265075:E409K|.	E|R	-|-	1|2	0|0	DROSHA|DROSHA	31544622|31544622	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.985000|0.985000	0.73830|0.73830	7.433000|7.433000	0.80362|0.80362	2.515000|2.515000	0.84797|0.84797	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.443	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
SLC30A5	64924	broad.mit.edu	37	5	68411085	68411085	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:68411085C>G	ENST00000396591.3	+	8	1244	c.634C>G	c.(634-636)Ctg>Gtg	p.L212V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	212					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTAGTACTGGCTTTGTG	0.373																																						uc003jvh.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(634-636)Ctg>Gtg		Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.							186.0	173.0	177.0					5																	68411085		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68411085C>G	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.634C>G	5.37:g.68411085C>G	ENSP00000379836:p.Leu212Val					SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_Missense_Mutation_p.L41V	p.L212V	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	7	941	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	212					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.634C>G	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922731	0.52653	.	.	ENSG00000145740	ENST00000396591	T	0.65364	-0.15	5.53	4.64	0.57946	.	0.364255	0.26601	N	0.023477	T	0.49558	0.1564	L	0.34521	1.04	0.80722	D	1	B;B	0.19583	0.037;0.006	B;B	0.22753	0.041;0.007	T	0.43718	-0.9374	10	0.36615	T	0.2	.	10.796	0.46461	0.0:0.8562:0.0:0.1438	.	41;212	Q8TAD4-2;Q8TAD4	.;ZNT5_HUMAN	V	212	ENSP00000379836:L212V	ENSP00000379836:L212V	L	+	1	2	SLC30A5	68446841	0.918000	0.31147	1.000000	0.80357	0.998000	0.95712	0.477000	0.22196	2.761000	0.94854	0.650000	0.86243	CTG		0.373	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
PCDHA3	56145	broad.mit.edu	37	5	140180868	140180868	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140180868G>A	ENST00000522353.2	+	1	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G29D|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	29					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGCGGCCAGCTCCAC	0.637																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(85-87)gGc>gAc		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							57.0	64.0	61.0					5																	140180868		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140180868G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.86G>A	5.37:g.140180868G>A	ENSP00000429808:p.Gly29Asp					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G29D	p.G29D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	86	+			42					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.86G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045183	0.36085	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.29142	1.58;1.58	4.65	2.77	0.32553	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.39759	U	0.001271	T	0.59595	0.2205	M	0.90595	3.13	0.22050	N	0.999394	D;P	0.61080	0.989;0.871	D;P	0.64776	0.929;0.547	T	0.60214	-0.7307	10	0.59425	D	0.04	.	14.8441	0.70246	0.0:0.2719:0.7281:0.0	.	29;29	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	D	29	ENSP00000429808:G29D;ENSP00000434086:G29D	ENSP00000429808:G29D	G	+	2	0	PCDHA3	140161052	0.995000	0.38212	1.000000	0.80357	0.054000	0.15201	2.456000	0.44997	0.455000	0.26910	0.586000	0.80456	GGC		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHGA2	56113	broad.mit.edu	37	5	140720212	140720212	+	Silent	SNP	C	C	T	rs150000282	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140720212C>T	ENST00000394576.2	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	558	Cadherin 5. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.622																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1672-1674)aaC>aaT		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.		C	,,	1,4405		0,1,2202	158.0	158.0	158.0		,1674,1674	-6.3	0.0	5	dbSNP_134	158	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	,558/933,558/824	140720212	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720212C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1674C>T	5.37:g.140720212C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.N558N	p.N558N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1859	+			560			Cadherin 5.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1674C>T	CCDS47289.1																																																																																				0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
TRIM26	7726	broad.mit.edu	37	6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:30153775C>A	ENST00000454678.2	-	10	1934	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_ENST00000437089.1_Missense_Mutation_p.V500L|TRIM26_ENST00000453195.1_Missense_Mutation_p.V500L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	500	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627																																						uc003npr.3																			0				lung(1)|ovary(2)	3						c.(1498-1500)Gtg>Ttg		Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.							69.0	45.0	54.0					6																	30153775		1511	2708	4219	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30153775C>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1498G>T	6.37:g.30153775C>A	ENSP00000410446:p.Val500Leu					TRIM26_uc003nps.3_Missense_Mutation_p.V500L|TRIM26_uc003npt.3_Missense_Mutation_p.V500L|TRIM26_uc010jry.3_Missense_Mutation_p.V230L	p.V500L	NM_003449	NP_003440	Q12899	TRI26_HUMAN			8	1707	-			500			B30.2/SPRY.		A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.1498G>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495273	0.64186	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.55930	0.49;0.49;0.49	5.68	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.39274	N	0.001420	T	0.35508	0.0934	L	0.39566	1.225	0.37600	D	0.920513	P;P	0.44627	0.839;0.796	P;P	0.47134	0.539;0.459	T	0.38394	-0.9663	10	0.52906	T	0.07	.	7.3148	0.26495	0.0:0.7404:0.1715:0.0881	.	500;500	Q5SRL2;Q12899	.;TRI26_HUMAN	L	500	ENSP00000391879:V500L;ENSP00000410446:V500L;ENSP00000395491:V500L	ENSP00000395491:V500L	V	-	1	0	TRIM26	30261754	0.924000	0.31332	0.977000	0.42913	0.885000	0.51271	1.890000	0.39728	2.669000	0.90835	0.544000	0.68410	GTG		0.627	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449	
HLA-DPA1	3113	broad.mit.edu	37	6	33036842	33036842	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:33036842G>A	ENST00000419277.1	-	4	711	c.582C>T	c.(580-582)tgC>tgT	p.C194C	HLA-DPA1_ENST00000428995.1_Silent_p.C194C|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCTCCACCCTGCAGTCATAGA	0.537																																						uc003ocs.2																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(580-582)tgC>tgT		Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.							183.0	204.0	197.0					6																	33036842		1510	2709	4219	SO:0001819	synonymous_variant	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33036842G>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.582C>T	6.37:g.33036842G>A						HLA-DPA1_uc021ywg.1_Silent_p.C194C|HLA-DPA1_uc021ywh.1_Silent_p.C194C|HLA-DPA1_uc010juk.3_Silent_p.C194C	p.C194C	NM_033554	NP_291032	P20036	DPA1_HUMAN			2	689	-			194			Alpha-2.|Ig-like C1-type.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	c.582C>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	G	0.679	-0.799082	0.02841	.	.	ENSG00000231389	ENST00000437811	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.253	0.26160	0.1299:0.0:0.87:0.0	.	.	.	.	X	62	.	.	Q	-	1	0	HLA-DPA1	33144820	0.997000	0.39634	0.809000	0.32408	0.056000	0.15407	1.901000	0.39838	1.824000	0.53156	0.643000	0.83706	CAG		0.537	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554	
FAM83B	222584	broad.mit.edu	37	6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:54805390C>T	ENST00000306858.7	+	5	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873). {ECO:0000305}.						autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCGGCTTCGTTCCTCTTT	0.418																																						uc003pck.3																			0		p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1621-1623)Cgt>Tgt		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							94.0	95.0	95.0					6																	54805390		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805390C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1621C>T	6.37:g.54805390C>T	ENSP00000304078:p.Arg541Cys						p.R541C	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	1737	+	Lung NSC(77;0.0178)|Renal(3;0.122)		541	R -> S (in Ref. 4; BAB70873).				Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1621C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614298	0.66672	.	.	ENSG00000168143	ENST00000306858	T	0.50813	0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	10	0.87932	D	0	-18.1779	20.1253	0.97977	0.0:1.0:0.0:0.0	.	541	Q5T0W9	FA83B_HUMAN	C	541	ENSP00000304078:R541C	ENSP00000304078:R541C	R	+	1	0	FAM83B	54913349	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	2.217000	0.42880	2.832000	0.97577	0.655000	0.94253	CGT		0.418	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
PRIM2	5558	broad.mit.edu	37	6	57498985	57498985	+	3'UTR	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:57498985G>C	ENST00000389488.2	+	0	1336				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAGTAAAGGGGACACATTA	0.299																																						uc003pdx.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(1246-1248)Ggg>Cgg		Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.							90.0	81.0	84.0					6																	57498985		1839	4083	5922	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57498985G>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1333G>C	6.37:g.57498985G>C							p.G416R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1333	+			417					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1246G>C																																																																																					0.299	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	
ELFN1	392617	broad.mit.edu	37	7	1786648	1786648	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:1786648T>C	ENST00000424383.2	+	3	2903	c.2416T>C	c.(2416-2418)Ttc>Ctc	p.F806L	ELFN1_ENST00000561626.1_Missense_Mutation_p.F806L|ELFN1_ENST00000541472.1_Missense_Mutation_p.F784L			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	806					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GAAGGTTCAGTTCGCCAAAGA	0.637																																						uc010ksg.2																			0				endometrium(1)	1						c.(2416-2418)Ttc>Ctc		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 1 (ELFN1), mRNA.							59.0	59.0	59.0					7																	1786648		692	1591	2283	SO:0001583	missense	392617							g.chr7:1786648T>C		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.2416T>C	7.37:g.1786648T>C	ENSP00000456548:p.Phe806Leu						p.F806L	NM_001128636	NP_001122108					1	2800	+								H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	c.2416T>C	CCDS59046.1																																																																																				0.637	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636	
AHR	196	broad.mit.edu	37	7	17375305	17375305	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:17375305G>A	ENST00000242057.4	+	9	1698	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	352	PAC.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATAGTTTTCCGGCTTCTTACA	0.333																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1054-1056)cGg>cAg		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							47.0	43.0	44.0					7																	17375305		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17375305G>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1055G>A	7.37:g.17375305G>A	ENSP00000242057:p.Arg352Gln						p.R352Q	NM_001621	NP_001612	P35869	AHR_HUMAN			8	1668	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		352			PAC.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1055G>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327592	0.95733	.	.	ENSG00000106546	ENST00000242057	T	0.35421	1.31	5.98	5.98	0.97165	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82051	-0.0649	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	352	P35869	AHR_HUMAN	Q	352	ENSP00000242057:R352Q	ENSP00000242057:R352Q	R	+	2	0	AHR	17341830	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	CGG		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:36571798G>A	ENST00000258749.5	-	18	1779	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000538464.1_Silent_p.H182H|AOAH_ENST00000431169.1_Silent_p.H460H|AOAH_ENST00000491444.1_5'UTR	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512																																						uc022abu.1																			2	Substitution - coding silent(2)	p.H460H(4)	urinary_tract(1)|prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1378-1380)caC>caT		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.							106.0	101.0	103.0					7																	36571798		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571798G>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1380C>T	7.37:g.36571798G>A						AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	p.H460H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			17	1781	-			460					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1380C>T	CCDS5448.1																																																																																				0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
LAT2	7462	broad.mit.edu	37	7	73630358	73630358	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:73630358T>G	ENST00000460943.1	+	3	942	c.53T>G	c.(52-54)tTg>tGg	p.L18W	LAT2_ENST00000344995.5_Missense_Mutation_p.L18W|LAT2_ENST00000398475.1_Missense_Mutation_p.L18W|LAT2_ENST00000275635.7_Missense_Mutation_p.L18W	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.L18W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTGGTGCTGTTGGGGGTGGCA	0.637																																						uc003uag.3																			1	Substitution - Missense(1)	p.L18W(2)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(52-54)tTg>tGg		Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.							40.0	52.0	48.0					7																	73630358		2160	4255	6415	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73630358T>G	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.53T>G	7.37:g.73630358T>G	ENSP00000420494:p.Leu18Trp					LAT2_uc003uah.3_Missense_Mutation_p.L18W|LAT2_uc003uai.3_Missense_Mutation_p.L18W|LAT2_uc010lbo.3_Non-coding_Transcript	p.L18W	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN			2	603	+			18					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.53T>G	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895640	0.52121	.	.	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	3.49	3.49	0.39957	.	0.220262	0.22235	N	0.062769	T	0.19446	0.0467	L	0.32530	0.975	0.42382	D	0.992496	D	0.89917	1.0	D	0.91635	0.999	T	0.01287	-1.1395	10	0.87932	D	0	-11.0846	8.6821	0.34214	0.0:0.0:0.0:1.0	.	18	Q9GZY6	NTAL_HUMAN	W	18	ENSP00000420549:L18W;ENSP00000344881:L18W;ENSP00000420494:L18W;ENSP00000417533:L18W;ENSP00000381492:L18W;ENSP00000354374:L18W;ENSP00000275635:L18W;ENSP00000419150:L18W	ENSP00000275635:L18W	L	+	2	0	LAT2	73268294	0.998000	0.40836	0.997000	0.53966	0.236000	0.25371	2.829000	0.48128	1.831000	0.53308	0.459000	0.35465	TTG		0.637	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1		
SMO	6608	broad.mit.edu	37	7	128843306	128843306	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:128843306G>A	ENST00000249373.3	+	2	693	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	138	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GAGAATGACCGGGTGGAGCTG	0.672			Mis		skin basal cell																																	uc003vor.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(412-414)cGg>cAg		Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.							29.0	23.0	25.0					7																	128843306		2201	4297	6498	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128843306G>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.413G>A	7.37:g.128843306G>A	ENSP00000249373:p.Arg138Gln						p.R138Q	NM_005631	NP_005622	Q99835	SMO_HUMAN			1	693	+			138			FZ.		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.413G>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874345	0.51695	.	.	ENSG00000128602	ENST00000249373	T	0.80123	-1.34	5.5	5.5	0.81552	Frizzled domain (5);	0.191611	0.43260	D	0.000595	T	0.63954	0.2555	N	0.25094	0.71	0.30013	N	0.814992	B	0.31026	0.304	B	0.22753	0.041	T	0.58736	-0.7584	10	0.15499	T	0.54	.	10.3558	0.43962	0.0882:0.0:0.9118:0.0	.	138	Q99835	SMO_HUMAN	Q	138	ENSP00000249373:R138Q	ENSP00000249373:R138Q	R	+	2	0	SMO	128630542	0.955000	0.32602	0.998000	0.56505	0.983000	0.72400	3.455000	0.52993	2.584000	0.87258	0.563000	0.77884	CGG		0.672	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
KEL	3792	broad.mit.edu	37	7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A	rs370938244		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:142639595G>A	ENST00000355265.2	-	18	2437	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	655					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R655W(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597																																						uc003wcb.3																			1	Substitution - Missense(1)	p.R655W(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1963-1965)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	40.0	46.0		1963	-8.7	0.0	7		46	0,8600		0,0,4300	no	missense	KEL	NM_000420.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	655/733	142639595	1,13005	2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639595G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1963C>T	7.37:g.142639595G>A	ENSP00000347409:p.Arg655Trp						p.R655W	NM_000420	NP_000411	P23276	KELL_HUMAN			17	2173	-	Melanoma(164;0.059)		655					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1963C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	6.176	0.400625	0.11696	2.27E-4	0.0	ENSG00000197993	ENST00000355265	D	0.90788	-2.73	4.34	-8.67	0.00863	Peptidase M13, neprilysin, C-terminal (1);	3.616020	0.01020	N	0.003977	T	0.82093	0.4962	L	0.33093	0.98	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.68842	-0.5302	10	0.44086	T	0.13	-22.5163	3.9028	0.09169	0.0966:0.2072:0.4197:0.2765	.	655	P23276	KELL_HUMAN	W	655	ENSP00000347409:R655W	ENSP00000347409:R655W	R	-	1	2	KEL	142349717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.704000	0.00822	-3.552000	0.00142	-1.446000	0.01064	CGG		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
AGAP3	116988	broad.mit.edu	37	7	150835302	150835302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:150835302C>T	ENST00000397238.2	+	12	1568	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	487	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGGCTGGCCCGCGCCCTGAG	0.716																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1567-1569)cCg>cTg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.																																				SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150835302C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1568C>T	7.37:g.150835302C>T	ENSP00000380413:p.Pro523Leu					AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	p.P523L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			11	1571	+			487			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1568C>T	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040864	0.19669	.	.	ENSG00000133612	ENST00000397238;ENST00000335355	T	0.68903	-0.36	3.94	3.06	0.35304	.	1.139550	0.06662	N	0.764713	T	0.54431	0.1858	N	0.24115	0.695	0.23649	N	0.997202	B	0.02656	0.0	B	0.04013	0.001	T	0.43114	-0.9411	10	0.39692	T	0.17	.	10.6091	0.45410	0.0:0.905:0.0:0.095	.	523	Q96P47-4	.	L	523;487	ENSP00000380413:P523L	ENSP00000334157:P487L	P	+	2	0	AGAP3	150466235	0.001000	0.12720	0.002000	0.10522	0.563000	0.35712	0.046000	0.14035	0.848000	0.35191	0.462000	0.41574	CCG		0.716	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946	
NUB1	51667	broad.mit.edu	37	7	151065966	151065966	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:151065966G>A	ENST00000355851.4	+	11	1318	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	NUB1_ENST00000413040.2_Missense_Mutation_p.R438H|NUB1_ENST00000566856.1_Missense_Mutation_p.R414H|NUB1_ENST00000568733.1_Missense_Mutation_p.R438H	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	414					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTACCAACCGCAGAGAGGTA	0.483																																						uc003wjx.3																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1312-1314)cGc>cAc		Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.							52.0	51.0	51.0					7																	151065966		1920	4126	6046	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151065966G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1241G>A	7.37:g.151065966G>A	ENSP00000348110:p.Arg414His					NUB1_uc003wjw.3_Missense_Mutation_p.R414H|AK055458_uc003wjz.1_5'Flank	p.R438H	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	10	1329	+			414			NEDD8-binding 1.|UBA 2.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1313G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602017|4.602017	0.87055|0.87055	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000460712|ENST00000413040;ENST00000355851	.|T	.|0.51817	.|0.69	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	.|0.117180	.|0.53938	.|D	.|0.000044	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.66939|0.66939	2.045|2.045	0.50313|0.50313	D|D	0.999866|0.999866	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.935;0.984	T|T	0.65817|0.65817	-0.6076|-0.6076	5|10	.|0.56958	.|D	.|0.05	-12.6699|-12.6699	11.7792|11.7792	0.52003|0.52003	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	.|414;414	.|Q9Y5A7;Q9Y5A7-2	.|NUB1_HUMAN;.	T|H	50|414	.|ENSP00000348110:R414H	.|ENSP00000348110:R414H	A|R	+|+	1|2	0|0	NUB1|NUB1	150696899|150696899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.456000|4.456000	0.60081|0.60081	2.564000|2.564000	0.86499|0.86499	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.483	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118	
CTSB	1508	broad.mit.edu	37	8	11706616	11706616	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:11706616C>T	ENST00000353047.6	-	5	638	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	CTSB_ENST00000531089.1_Missense_Mutation_p.V129I|CTSB_ENST00000453527.2_Missense_Mutation_p.V129I|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.V129I|CTSB_ENST00000530640.2_Missense_Mutation_p.V129I|CTSB_ENST00000434271.1_Missense_Mutation_p.V129I|CTSB_ENST00000533455.1_Missense_Mutation_p.V129I|CTSB_ENST00000345125.3_Missense_Mutation_p.V129I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	129					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TCCACGCTGACGTGCGCATTG	0.642																																						uc003wuq.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(385-387)Gtc>Atc		Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.							62.0	48.0	53.0					8																	11706616		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11706616C>T	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.385G>A	8.37:g.11706616C>T	ENSP00000345672:p.Val129Ile					CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.V50I|CTSB_uc003wum.3_Missense_Mutation_p.V129I|CTSB_uc003wun.3_Missense_Mutation_p.V129I|CTSB_uc003wuo.3_Missense_Mutation_p.V129I|CTSB_uc003wup.3_Missense_Mutation_p.V129I|CTSB_uc003wuu.3_5'UTR	p.V129I	NM_001908	NP_680093	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	4	547	-	all_epithelial(15;0.205)		129					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.385G>A	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628265	0.46944	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.54	5.54	0.83059	Peptidase C1A, papain C-terminal (2);	0.164763	0.53938	D	0.000060	T	0.81992	0.4940	L	0.35288	1.05	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75616	-0.3256	10	0.23891	T	0.37	.	18.4664	0.90757	0.0:1.0:0.0:0.0	.	129	P07858	CATB_HUMAN	I	129;129;129;129;129;129;129;129;35;129;129;129;129;129;129;129	ENSP00000415889:V129I;ENSP00000345672:V129I;ENSP00000435105:V129I;ENSP00000433215:V129I;ENSP00000409917:V129I;ENSP00000342070:V129I;ENSP00000432244:V129I;ENSP00000434217:V129I;ENSP00000436159:V129I;ENSP00000433995:V129I;ENSP00000435074:V129I;ENSP00000436627:V129I;ENSP00000434725:V129I;ENSP00000436122:V129I;ENSP00000431518:V129I	ENSP00000342070:V129I	V	-	1	0	CTSB	11744025	0.977000	0.34250	0.077000	0.20336	0.903000	0.53119	2.023000	0.41040	2.598000	0.87819	0.462000	0.41574	GTC		0.642	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
FAM92A1	137392	broad.mit.edu	37	8	94713461	94713461	+	Silent	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:94713461A>G	ENST00000518322.1	+	2	177	c.36A>G	c.(34-36)caA>caG	p.Q12Q	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Silent_p.Q12Q|FAM92A1_ENST00000522324.1_Silent_p.Q12Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	12										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAACGCTCAAACGAAACAAC	0.453																																						uc022ayd.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(34-36)caA>caG		Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.							55.0	51.0	53.0					8																	94713461		1901	4129	6030	SO:0001819	synonymous_variant	137392							g.chr8:94713461A>G		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.36A>G	8.37:g.94713461A>G						LINC00535_uc022ayb.1_5'Flank|FAM92A1_uc003yfu.1_Non-coding_Transcript|FAM92A1_uc022ayc.1_Silent_p.Q12Q	p.Q12Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		1	139	+	Breast(36;2.4e-06)		12					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Silent	SNP	ENST00000518322.1	37	c.36A>G	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	A	9.587	1.125202	0.20959	.	.	ENSG00000188343	ENST00000523453	.	.	.	4.38	-2.1	0.07210	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56643	-0.7945	4	.	.	.	-3.3017	11.8862	0.52604	0.4124:0.0:0.5876:0.0	.	.	.	.	D	23	.	.	N	+	1	0	FAM92A1	94782637	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	1.319000	0.33655	-0.230000	0.09840	-0.250000	0.11733	AAC		0.453	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269	
PIGO	84720	broad.mit.edu	37	9	35092240	35092240	+	Silent	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35092240G>T	ENST00000378617.3	-	7	2038	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	PIGO_ENST00000341666.3_Silent_p.P548P|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	548					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAACAGGACGGGCCCAGGGA	0.577																																						uc003zwd.3																			0		p.G547E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1642-1644)ccC>ccA		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							54.0	59.0	57.0					9																	35092240		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092240G>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1644C>A	9.37:g.35092240G>T						PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.P111P	p.P548P	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	2040	-			548					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.1644C>A	CCDS6575.1																																																																																				0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
RUSC2	9853	broad.mit.edu	37	9	35561054	35561054	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35561054C>G	ENST00000455600.1	+	11	4878	c.4309C>G	c.(4309-4311)Cag>Gag	p.Q1437E	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1437						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAGCCTGCAGGAGCCACA	0.657																																						uc003zww.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(4309-4311)Cag>Gag		Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.							25.0	32.0	30.0					9																	35561054		2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35561054C>G	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4309C>G	9.37:g.35561054C>G	ENSP00000393922:p.Gln1437Glu					RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.Q1437E	p.Q1437E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4564	+			1437					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4309C>G	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.343079	0.01277	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.16457	2.34;2.34	5.09	4.13	0.48395	Src homology-3 domain (1);	0.737178	0.13024	N	0.419831	T	0.08492	0.0211	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	10	0.12430	T	0.62	-4.7652	9.616	0.39692	0.1456:0.6729:0.1815:0.0	.	1437	Q8N2Y8	RUSC2_HUMAN	E	1437	ENSP00000355177:Q1437E;ENSP00000393922:Q1437E	ENSP00000355177:Q1437E	Q	+	1	0	RUSC2	35551054	0.022000	0.18835	0.732000	0.30844	0.029000	0.11900	2.798000	0.47884	2.527000	0.85204	0.650000	0.86243	CAG		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:1584669G>A	ENST00000381297.4	-	2	993	c.783C>T	c.(781-783)atC>atT	p.I261I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I261I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc022brv.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		1	Substitution - coding silent(1)	p.I261I(2)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(781-783)atC>atT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							79.0	75.0	77.0					X																	1584669		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584669G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.783C>T	X.37:g.1584669G>A						CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	783	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	261						Silent	SNP	ENST00000381297.4	37	c.783C>T	CCDS14115.1																																																																																				0.612	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
GSPT2	23708	broad.mit.edu	37	X	51487887	51487887	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:51487887C>T	ENST00000340438.4	+	1	1407	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	389	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCACTTTATGCCCTGCTCAGG	0.393																																						uc004dpl.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1165-1167)Ccc>Tcc		Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.							55.0	52.0	53.0					X																	51487887		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487887C>T	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1165C>T	X.37:g.51487887C>T	ENSP00000341247:p.Pro389Ser						p.P389S	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			0	1407	+	Ovarian(276;0.236)		389					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1165C>T	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306782	0.60305	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.50001	0.76	4.54	4.54	0.55810	Protein synthesis factor, GTP-binding (1);	0.054775	0.85682	D	0.000000	T	0.73361	0.3577	H	0.96633	3.855	0.80722	D	1	D	0.53462	0.96	P	0.54924	0.764	T	0.83156	-0.0101	10	0.87932	D	0	-25.406	14.1788	0.65559	0.0:1.0:0.0:0.0	.	389	Q8IYD1	ERF3B_HUMAN	S	389;306	ENSP00000341247:P389S	ENSP00000341247:P389S	P	+	1	0	GSPT2	51504627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.521000	0.84997	0.592000	0.82586	CCC		0.393	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1		
PFKFB1	5207	broad.mit.edu	37	X	54986328	54986328	+	Splice_Site	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:54986328T>C	ENST00000375006.3	-	4	388		c.e4-2		PFKFB1_ENST00000374992.2_Splice_Site|PFKFB1_ENST00000545676.1_Splice_Site	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCGCACTGCCTGAAATAGACC	0.443																																						uc004dty.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.e4-1		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.							39.0	36.0	37.0					X																	54986328		2203	4300	6503	SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986328T>C		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.318-2A>G	X.37:g.54986328T>C						PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	p.K106_splice	NM_002625	NP_002616	P16118	F261_HUMAN			4	389	-			106			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Splice_Site	SNP	ENST00000375006.3	37	c.318_splice	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635802	0.29068	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9354	0.58311	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PFKFB1	55003053	1.000000	0.71417	0.968000	0.41197	0.030000	0.12068	7.800000	0.85949	1.762000	0.52044	0.486000	0.48141	.		0.443	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Intron
IL13RA2	3598	broad.mit.edu	37	X	114248418	114248418	+	Silent	SNP	G	G	A	rs199528071		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:114248418G>A	ENST00000371936.1	-	6	684	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IL13RA2_ENST00000468224.1_5'Flank|IL13RA2_ENST00000243213.1_Silent_p.C145C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	145	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTAATATACGCAATCCATAT	0.328													G|||	1	0.000264901	0.0	0.0014	3775	,	,		12886	0.0		0.0	False		,,,				2504	0.0					uc004epx.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(433-435)tgC>tgT		Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.							81.0	74.0	76.0					X																	114248418		2203	4299	6502	SO:0001819	synonymous_variant	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114248418G>A	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.435C>T	X.37:g.114248418G>A						IL13RA2_uc010nqd.1_Silent_p.C145C|IL13RA2_uc022cdb.1_Silent_p.C145C	p.C145C	NM_000640	NP_000631	Q14627	I13R2_HUMAN			4	560	-			145			Fibronectin type-III 2.		A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	c.435C>T	CCDS14565.1																																																																																				0.328	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
