#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
PRAMEF20	645425	broad.mit.edu	37	1	13743092	13743092	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:13743092G>A	ENST00000602960.1	+	1	285	c.281G>A	c.(280-282)cGt>cAt	p.R94H	PRAMEF20_ENST00000316412.5_Missense_Mutation_p.R94H			Q5VT98	PRA20_HUMAN	PRAME family member 20	94					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGGGTTCGTCTCAGGTGA	0.607																																						uc009voa.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(280-282)cGt>cAt		Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.							32.0	33.0	33.0					1																	13743092		2183	4256	6439	SO:0001583	missense	645425							g.chr1:13743092G>A		CCDS41265.1	1p36.21	2014-07-15			ENSG00000204478	ENSG00000204478		"""-"""	25224	protein-coding gene	gene with protein product			"""PRAME family member 21"""	PRAMEF21			Standard	NM_001099852		Approved	OTTHUMG00000007911, OTTHUMT00000008157	uc009vnv.1	Q5VT98	OTTHUMG00000007911	ENST00000602960.1:c.281G>A	1.37:g.13743092G>A	ENSP00000473584:p.Arg94His						p.R94H	NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	380	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	94						Missense_Mutation	SNP	ENST00000602960.1	37	c.281G>A	CCDS41265.1	.	.	.	.	.	.	.	.	.	.	.	5.103	0.204696	0.09704	.	.	ENSG00000204478	ENST00000316412	T	0.04758	3.56	1.51	-0.589	0.11683	.	1.302520	0.05142	N	0.494379	T	0.04679	0.0127	L	0.41824	1.3	0.09310	N	1	.	.	.	.	.	.	T	0.45731	-0.9241	8	0.14656	T	0.56	.	4.0289	0.09700	0.4469:0.0:0.5531:0.0	.	.	.	.	H	94	ENSP00000346275:R94H	ENSP00000346275:R94H	R	+	2	0	PRAMEF20	13615679	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-2.236000	0.01201	-0.157000	0.11059	0.306000	0.20318	CGT		0.607	PRAMEF20-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021782.1	NM_001099852	
HTR1D	3352	broad.mit.edu	37	1	23520158	23520158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:23520158C>T	ENST00000374619.1	-	1	1064	c.555G>A	c.(553-555)atG>atA	p.M185I	HTR1D_ENST00000314113.3_Missense_Mutation_p.M185I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	185					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACAGTCCGACATCTCCTCCT	0.592																																						uc001bgn.3																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(553-555)atG>atA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						70.0	76.0	74.0					1																	23520158		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520158C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.555G>A	1.37:g.23520158C>T	ENSP00000363748:p.Met185Ile						p.M185I	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	0	1065	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	185						Missense_Mutation	SNP	ENST00000374619.1	37	c.555G>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416000	0.11870	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.36340	1.26;1.26	5.48	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.262738	0.39687	N	0.001291	T	0.12135	0.0295	N	0.00873	-1.125	0.37280	D	0.90781	B	0.02656	0.0	B	0.04013	0.001	T	0.07009	-1.0795	10	0.37606	T	0.19	.	8.7106	0.34382	0.2616:0.4731:0.2654:0.0	.	185	P28221	5HT1D_HUMAN	I	185	ENSP00000313661:M185I;ENSP00000363748:M185I	ENSP00000313661:M185I	M	-	3	0	HTR1D	23392745	0.993000	0.37304	0.995000	0.50966	0.676000	0.39594	0.450000	0.21762	1.268000	0.44264	0.591000	0.81541	ATG		0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864	
MTF1	4520	broad.mit.edu	37	1	38305766	38305766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:38305766C>T	ENST00000373036.4	-	3	613	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	158					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGTGGGTTCGCAGGTTGCC	0.527																																						uc001cce.1																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(472-474)cGa>cAa		Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.							153.0	135.0	141.0					1																	38305766		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305766C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.473G>A	1.37:g.38305766C>T	ENSP00000362127:p.Arg158Gln					MTF1_uc009vvj.1_5'UTR	p.R158Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			2	614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	158					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.473G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323101	0.95708	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.50813	0.73	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	N	0.16743	0.435	0.49051	D	0.999746	D	0.89917	1.0	D	0.72625	0.978	T	0.57688	-0.7768	10	0.45353	T	0.12	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	158	Q14872	MTF1_HUMAN	Q	158;26	ENSP00000362127:R158Q	ENSP00000362127:R158Q	R	-	2	0	MTF1	38078353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.877000	0.69675	2.665000	0.90641	0.650000	0.86243	CGA		0.527	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
IL12RB2	3595	broad.mit.edu	37	1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	rs141507006		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:67861543C>T	ENST00000262345.1	+	16	3000	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	IL12RB2_ENST00000544434.1_Missense_Mutation_p.T701M|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	787					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCCCTGGACGGTGCTCCCA	0.582																																						uc001ddu.3																			0		p.T787T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2359-2361)aCg>aTg		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.		C	MET/THR	0,4406		0,0,2203	147.0	142.0	144.0		2360	1.7	0.0	1	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL12RB2	NM_001559.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	787/863	67861543	1,13005	2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861543C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2360C>T	1.37:g.67861543C>T	ENSP00000262345:p.Thr787Met					IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.T787M	NM_001559	NP_001550	Q99665	I12R2_HUMAN			15	3000	+			787					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2360C>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544899	0.45280	0.0	1.16E-4	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.43294	0.95;1.85	4.85	1.69	0.24217	.	0.389061	0.27936	N	0.017242	T	0.37679	0.1012	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.77004	0.989;0.791	T	0.11616	-1.0580	10	0.56958	D	0.05	-0.8822	2.9707	0.05922	0.1855:0.5364:0.1797:0.0983	.	701;787	F5H7L6;Q99665	.;I12R2_HUMAN	M	787;701	ENSP00000262345:T787M;ENSP00000442443:T701M	ENSP00000262345:T787M	T	+	2	0	IL12RB2	67634131	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.250000	0.18235	0.732000	0.32470	0.655000	0.94253	ACG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
LRRC8D	55144	broad.mit.edu	37	1	90400304	90400304	+	Silent	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:90400304C>G	ENST00000337338.5	+	3	2084	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	LRRC8D_ENST00000394593.3_Silent_p.L559L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	559					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTATTTGCTCAAAAACCTTC	0.418																																						uc021opq.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1675-1677)ctC>ctG		Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.							68.0	69.0	68.0					1																	90400304		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400304C>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1677C>G	1.37:g.90400304C>G						LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L	p.L559L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	0	1677	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	559					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1677C>G	CCDS726.1																																																																																				0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
C1orf85	112770	broad.mit.edu	37	1	156264001	156264001	+	Silent	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156264001T>A	ENST00000362007.1	-	4	632	c.606A>T	c.(604-606)cgA>cgT	p.R202R	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	202					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTTGGGCTGGTCGGCTGGACC	0.592																																						uc001foh.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(604-606)cgA>cgT		Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.							41.0	43.0	42.0					1																	156264001		2203	4300	6503	SO:0001819	synonymous_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156264001T>A	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.606A>T	1.37:g.156264001T>A						C1orf85_uc001fof.4_5'Flank	p.R202R	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN			3	619	-	Hepatocellular(266;0.158)		202					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	c.606A>T	CCDS1139.1																																																																																				0.592	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580	
NTRK1	4914	broad.mit.edu	37	1	156841494	156841494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156841494G>A	ENST00000524377.1	+	7	838	c.797G>A	c.(796-798)tGg>tAg	p.W266*	NTRK1_ENST00000358660.3_Nonsense_Mutation_p.W266*|NTRK1_ENST00000368196.3_Nonsense_Mutation_p.W266*|NTRK1_ENST00000392302.2_Nonsense_Mutation_p.W236*	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	266	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTGACGTGCTGGGCAGAGAAC	0.592			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(796-798)tGg>tAg		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						101.0	86.0	91.0					1																	156841494		2203	4300	6503	SO:0001587	stop_gained	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841494G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.797G>A	1.37:g.156841494G>A	ENSP00000431418:p.Trp266*	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	p.W266*	NM_002529	NP_002520	P04629	NTRK1_HUMAN			6	853	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		266			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	ENST00000524377.1	37	c.797G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397089	0.96009	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	.	.	.	4.7	4.7	0.59300	.	0.274695	0.26442	N	0.024346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	16.3725	0.83370	0.0:0.0:1.0:0.0	.	.	.	.	X	236;266;266;266	.	ENSP00000351486:W266X	W	+	2	0	NTRK1	155108118	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	2.637000	0.46553	2.432000	0.82394	0.655000	0.94253	TGG		0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																						uc001fst.1																			6	Substitution - Missense(6)	p.A2011V(12)|p.A2011A(2)	lung(4)|urinary_tract(1)|prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gCc>gTc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val						p.A2011V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			42	6231	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SIPA1L2	57568	broad.mit.edu	37	1	232574923	232574923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:232574923G>A	ENST00000366630.1	-	14	4320	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S395F|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1321F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1321	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGATGGTGGACGCGTAGCC	0.602																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3961-3963)tCc>tTc		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							32.0	36.0	35.0					1																	232574923		2084	4221	6305	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574923G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3962C>T	1.37:g.232574923G>A	ENSP00000355589:p.Ser1321Phe					SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F	p.S1321F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			12	4120	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1321			Ser-rich.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3962C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823413	0.02755	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.79749	-1.3;-1.3;2.64	5.16	5.16	0.70880	.	1.000890	0.08060	N	0.998044	T	0.79088	0.4387	L	0.43152	1.355	0.09310	N	1	B;P	0.47253	0.371;0.892	B;B	0.43251	0.235;0.413	T	0.70883	-0.4751	10	0.59425	D	0.04	-3.4595	14.4464	0.67352	0.0:0.147:0.853:0.0	.	1321;395	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	F	1321;1321;395	ENSP00000355589:S1321F;ENSP00000262861:S1321F;ENSP00000309102:S395F	ENSP00000262861:S1321F	S	-	2	0	SIPA1L2	230641546	0.995000	0.38212	0.006000	0.13384	0.044000	0.14063	5.986000	0.70563	2.683000	0.91414	0.563000	0.77884	TCC		0.602	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SORBS1	10580	broad.mit.edu	37	10	97096883	97096883	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr10:97096883C>G	ENST00000361941.3	-	28	3060	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.E1012Q|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.E966Q|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAAGCCTCTGGCAGAGGA	0.607																																						uc001kkp.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3034-3036)Gag>Cag		Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.							42.0	44.0	43.0					10																	97096883		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096883C>G	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3034G>C	10.37:g.97096883C>G	ENSP00000355136:p.Glu1012Gln					SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron	p.E1012Q	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	27	3079	-		Colorectal(252;0.0429)	1012						Missense_Mutation	SNP	ENST00000361941.3	37	c.3034G>C	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081367	0.36758	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08984	3.08;3.03;3.08	5.58	4.66	0.58398	.	0.000000	0.42682	D	0.000663	T	0.05823	0.0152	N	0.19112	0.55	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.12156	0.007;0.003	T	0.38950	-0.9637	10	0.23891	T	0.37	-15.5286	10.6409	0.45592	0.0:0.7947:0.134:0.0714	.	966;1012	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	Q	1012;966;1012	ENSP00000360293:E1012Q;ENSP00000360271:E966Q;ENSP00000355136:E1012Q	ENSP00000355136:E1012Q	E	-	1	0	SORBS1	97086873	0.995000	0.38212	0.996000	0.52242	0.930000	0.56654	3.263000	0.51546	1.330000	0.45394	0.561000	0.74099	GAG		0.607	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
OR10Q1	219960	broad.mit.edu	37	11	57996044	57996044	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:57996044C>T	ENST00000316770.2	-	1	346	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ATTTGGGCCCCACATCCAGCC	0.547																																						uc010rkd.2																			0		p.G102V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(304-306)Ggg>Agg		Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.							81.0	70.0	74.0					11																	57996044		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996044C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.304G>A	11.37:g.57996044C>T	ENSP00000314324:p.Gly102Arg						p.G102R	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			0	347	-		Breast(21;0.0589)	102					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.304G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	7.620	0.676638	0.14841	.	.	ENSG00000180475	ENST00000316770	T	0.13089	2.62	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000595	T	0.15003	0.0362	M	0.66439	2.03	0.09310	N	1	B	0.34200	0.441	B	0.32149	0.141	T	0.20571	-1.0271	10	0.87932	D	0	.	8.1454	0.31108	0.0:0.8163:0.0:0.1837	.	102	Q8NGQ4	O10Q1_HUMAN	R	102	ENSP00000314324:G102R	ENSP00000314324:G102R	G	-	1	0	OR10Q1	57752620	0.000000	0.05858	0.985000	0.45067	0.025000	0.11179	-0.687000	0.05156	2.217000	0.71921	0.557000	0.71058	GGG		0.547	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471	
GAB2	9846	broad.mit.edu	37	11	77934481	77934481	+	Missense_Mutation	SNP	C	C	T	rs369351419		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:77934481C>T	ENST00000361507.4	-	6	1629	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	GAB2_ENST00000340149.2_Missense_Mutation_p.R477H	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	515					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGAGGTTGCGGTTGACAGG	0.547																																						uc001ozh.3																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1543-1545)cGc>cAc		Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.							145.0	133.0	137.0					11																	77934481		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934481C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1544G>A	11.37:g.77934481C>T	ENSP00000354952:p.Arg515His					GAB2_uc001ozg.3_Missense_Mutation_p.R477H	p.R515H	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		5	1646	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		515					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1544G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753164	0.89753	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.34472	1.36;1.36	4.97	4.06	0.47325	.	0.000000	0.64402	U	0.000001	T	0.52581	0.1743	M	0.85462	2.755	0.80722	D	1	D	0.63880	0.993	P	0.50934	0.654	T	0.63976	-0.6515	10	0.87932	D	0	-18.6921	13.3925	0.60832	0.0:0.925:0.0:0.075	.	515	Q9UQC2	GAB2_HUMAN	H	477;515	ENSP00000343959:R477H;ENSP00000354952:R515H	ENSP00000343959:R477H	R	-	2	0	GAB2	77612129	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.259000	0.78381	1.331000	0.45412	0.561000	0.74099	CGC		0.547	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
PDGFD	80310	broad.mit.edu	37	11	103797801	103797801	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:103797801T>C	ENST00000393158.2	-	6	1005	c.826A>G	c.(826-828)Aat>Gat	p.N276D	PDGFD_ENST00000302251.5_Missense_Mutation_p.N270D			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	276					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACCGAGTAATTCCTGGGAGTG	0.478																																						uc001phq.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(826-828)Aat>Gat		Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.							178.0	153.0	161.0					11																	103797801		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103797801T>C	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.826A>G	11.37:g.103797801T>C	ENSP00000376865:p.Asn276Asp					PDGFD_uc001php.3_Missense_Mutation_p.N270D	p.N276D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	1198	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	276					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.826A>G	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	32	5.167462	0.94768	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.29142	1.58;1.59	5.87	5.87	0.94306	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.61535	-0.7043	10	0.87932	D	0	-30.9391	16.2718	0.82624	0.0:0.0:0.0:1.0	.	276;270	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	D	276;270	ENSP00000376865:N276D;ENSP00000302193:N270D	ENSP00000302193:N270D	N	-	1	0	PDGFD	103303011	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.671000	0.83941	2.239000	0.73571	0.528000	0.53228	AAT		0.478	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
CD163	9332	broad.mit.edu	37	12	7639374	7639374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:7639374G>A	ENST00000359156.4	-	10	2381	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R715C|CD163_ENST00000396620.3_Missense_Mutation_p.R760C|CD163_ENST00000432237.2_Missense_Mutation_p.R727C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	727	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAGCACAGCGACCTCCTCCA	0.458																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2179-2181)Cgc>Tgc		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							88.0	85.0	86.0					12																	7639374		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639374G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2179C>T	12.37:g.7639374G>A	ENSP00000352071:p.Arg727Cys					CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	p.R727C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			9	2307	-			727			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2179C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817926	0.71028	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.54	4.62	0.57501	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.69142	0.3078	H	0.94503	3.545	0.47819	D	0.999527	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.77557	0.99;0.897;0.99	T	0.78650	-0.2121	10	0.72032	D	0.01	.	13.6108	0.62076	0.0:0.0:0.8435:0.1565	.	760;727;727	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	727;715;760;727	ENSP00000352071:R727C;ENSP00000444071:R715C;ENSP00000379863:R760C;ENSP00000403885:R727C	ENSP00000352071:R727C	R	-	1	0	CD163	7530641	0.148000	0.22702	0.910000	0.35882	0.917000	0.54804	2.789000	0.47813	1.440000	0.47531	0.650000	0.86243	CGC		0.458	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
GUCY2C	2984	broad.mit.edu	37	12	14840978	14840978	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:14840978G>A	ENST00000261170.3	-	2	373	c.237C>T	c.(235-237)aaC>aaT	p.N79N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	79					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGAAAGTAGCGTTCACAGTCA	0.433																																						uc001rcd.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(235-237)aaC>aaT		Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.							95.0	92.0	93.0					12																	14840978		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14840978G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.237C>T	12.37:g.14840978G>A						GUCY2C_uc009zhz.2_Silent_p.N79N	p.N79N	NM_004963	NP_004954	P25092	GUC2C_HUMAN			1	374	-			79					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.237C>T	CCDS8664.1																																																																																				0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
RERGL	79785	broad.mit.edu	37	12	18237578	18237578	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:18237578G>T	ENST00000229002.2	-	5	414	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Missense_Mutation_p.L69I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	70	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTTGTGAGGGAGAATTTT	0.383																																						uc001rdq.3																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(208-210)Ctc>Atc		Homo sapiens RERG/RAS-like (RERGL), mRNA.							115.0	111.0	113.0					12																	18237578		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237578G>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.208C>A	12.37:g.18237578G>T	ENSP00000229002:p.Leu70Ile						p.L70I	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			4	402	-			70			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.208C>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172334	0.57584	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.80123	-1.34;-1.34	4.79	4.79	0.61399	.	0.647828	0.15871	N	0.240541	T	0.80717	0.4676	L	0.27975	0.815	0.80722	D	1	B;D	0.56968	0.22;0.978	B;P	0.57620	0.295;0.824	T	0.76443	-0.2957	10	0.23302	T	0.38	.	16.8961	0.86101	0.0:0.0:1.0:0.0	.	69;70	F5H686;Q9H628	.;RERGL_HUMAN	I	70;69	ENSP00000229002:L70I;ENSP00000437814:L69I	ENSP00000229002:L70I	L	-	1	0	RERGL	18128845	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.585000	0.60977	2.599000	0.87857	0.467000	0.42956	CTC		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730	
C12orf40	283461	broad.mit.edu	37	12	40114778	40114778	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114778A>G	ENST00000324616.5	+	13	1838	c.1684A>G	c.(1684-1686)Aat>Gat	p.N562D		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	562								p.N562D(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTGAAAAATAATACAGATCA	0.393																																						uc001rmc.3																			2	Substitution - Missense(2)	p.N562D(4)	breast(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1684-1686)Aat>Gat		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							77.0	75.0	76.0					12																	40114778		1859	4105	5964	SO:0001583	missense	283461							g.chr12:40114778A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1684A>G	12.37:g.40114778A>G	ENSP00000317671:p.Asn562Asp					C12orf40_uc009zjv.1_Intron	p.N562D	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	1851	+			562					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1684A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324303	0.41197	.	.	ENSG00000180116	ENST00000324616	T	0.60171	0.21	4.29	1.96	0.26148	.	0.681258	0.13574	N	0.377838	T	0.42381	0.1200	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.25759	0.063	T	0.35151	-0.9800	10	0.51188	T	0.08	.	5.7311	0.18040	0.7861:0.0:0.2139:0.0	.	562	Q86WS4	CL040_HUMAN	D	562	ENSP00000317671:N562D	ENSP00000317671:N562D	N	+	1	0	C12orf40	38401045	0.022000	0.18835	0.000000	0.03702	0.010000	0.07245	0.423000	0.21313	0.447000	0.26695	-0.334000	0.08254	AAT		0.393	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
C12orf40	283461	broad.mit.edu	37	12	40114932	40114932	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114932A>G	ENST00000324616.5	+	13	1992	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	613										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTTGCCATACAGTGTGATCTA	0.408																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1837-1839)cAg>cGg		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							145.0	139.0	141.0					12																	40114932		1950	4148	6098	SO:0001583	missense	283461							g.chr12:40114932A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1838A>G	12.37:g.40114932A>G	ENSP00000317671:p.Gln613Arg					C12orf40_uc009zjv.1_Intron	p.Q613R	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	2005	+			613					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1838A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701366	0.68501	.	.	ENSG00000180116	ENST00000324616	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000196	T	0.68366	0.2993	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71182	-0.4668	10	0.72032	D	0.01	.	11.2882	0.49234	1.0:0.0:0.0:0.0	.	613	Q86WS4	CL040_HUMAN	R	613	ENSP00000317671:Q613R	ENSP00000317671:Q613R	Q	+	2	0	C12orf40	38401199	1.000000	0.71417	0.972000	0.41901	0.863000	0.49368	4.543000	0.60684	2.112000	0.64535	0.377000	0.23210	CAG		0.408	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
C12orf40	283461	broad.mit.edu	37	12	40114983	40114983	+	Missense_Mutation	SNP	A	A	C	rs200287146		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114983A>C	ENST00000324616.5	+	13	2043	c.1889A>C	c.(1888-1890)aAc>aCc	p.N630T		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	630								p.N630S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTCTTTGCAACCTTGAAAGG	0.363																																						uc001rmc.3																			1	Substitution - Missense(1)	p.N630S(2)	skin(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1888-1890)aAc>aCc		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							124.0	118.0	120.0					12																	40114983		1879	4120	5999	SO:0001583	missense	283461							g.chr12:40114983A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1889A>C	12.37:g.40114983A>C	ENSP00000317671:p.Asn630Thr					C12orf40_uc009zjv.1_Intron	p.N630T	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			12	2056	+			630					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1889A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295422	0.23564	.	.	ENSG00000180116	ENST00000324616	T	0.44083	0.93	4.15	-4.68	0.03309	.	1.269010	0.05564	N	0.569805	T	0.23572	0.0570	L	0.27053	0.805	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.17961	-1.0352	10	0.40728	T	0.16	.	0.4062	0.00433	0.2608:0.1526:0.2876:0.299	.	630	Q86WS4	CL040_HUMAN	T	630	ENSP00000317671:N630T	ENSP00000317671:N630T	N	+	2	0	C12orf40	38401250	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-0.797000	0.04450	0.377000	0.23210	AAC		0.363	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
SLC2A13	114134	broad.mit.edu	37	12	40153845	40153845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40153845C>T	ENST00000280871.4	-	10	1980	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	644					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACATCAGAAGCATCATTGTCA	0.383										HNSCC(50;0.14)																												uc010skm.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1930-1932)Gct>Act		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.							115.0	111.0	112.0					12																	40153845		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40153845C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1930G>A	12.37:g.40153845C>T	ENSP00000280871:p.Ala644Thr	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.A644T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			9	1981	-		Lung NSC(34;0.105)|all_lung(34;0.123)	644					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1930G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702449	0.88924	.	.	ENSG00000151229	ENST00000280871	D	0.82344	-1.6	5.33	4.43	0.53597	.	0.136283	0.48767	D	0.000174	T	0.78432	0.4282	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.47528	0.549	T	0.80425	-0.1388	10	0.52906	T	0.07	-15.275	16.1304	0.81428	0.0:0.8664:0.1336:0.0	.	644	Q96QE2	MYCT_HUMAN	T	644	ENSP00000280871:A644T	ENSP00000280871:A644T	A	-	1	0	SLC2A13	38440112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.397000	0.59690	1.218000	0.43458	0.561000	0.74099	GCT		0.383	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
HOXC5	3222	broad.mit.edu	37	12	54427115	54427115	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:54427115A>C	ENST00000312492.2	+	1	479	c.209A>C	c.(208-210)cAc>cCc	p.H70P	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	70					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H70P(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCCCGGGCTCACCCCGACCGC	0.672																																						uc001sew.3																			1	Substitution - Missense(1)	p.H70P(2)|p.A69D(1)	lung(1)	cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(208-210)cAc>cCc		Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.							24.0	27.0	26.0					12																	54427115		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427115A>C		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.209A>C	12.37:g.54427115A>C	ENSP00000309336:p.His70Pro					HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	p.H70P	NM_018953	NP_061826	Q00444	HXC5_HUMAN			0	284	+			70						Missense_Mutation	SNP	ENST00000312492.2	37	c.209A>C	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	A	6.450	0.451249	0.12223	.	.	ENSG00000172789	ENST00000312492	D	0.90004	-2.6	4.78	4.78	0.61160	.	0.000000	0.51477	D	0.000086	T	0.77398	0.4124	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72194	-0.4364	10	0.24483	T	0.36	.	13.7379	0.62829	1.0:0.0:0.0:0.0	.	70	Q00444	HXC5_HUMAN	P	70	ENSP00000309336:H70P	ENSP00000309336:H70P	H	+	2	0	HOXC5	52713382	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.176000	0.42500	2.137000	0.66172	0.496000	0.49642	CAC		0.672	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1		
R3HDM2	22864	broad.mit.edu	37	12	57677642	57677642	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:57677642C>G	ENST00000347140.3	-	13	1484	c.1094G>C	c.(1093-1095)aGt>aCt	p.S365T	R3HDM2_ENST00000413953.2_Missense_Mutation_p.S92T|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S365T|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S26T|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S379T|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S365T			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	365	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGCCTTTACTGCTGCCGAT	0.532																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1093-1095)aGt>aCt		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.							204.0	185.0	192.0					12																	57677642		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57677642C>G	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1094G>C	12.37:g.57677642C>G	ENSP00000317903:p.Ser365Thr					R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	p.S365T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			10	1129	-			365			Ser-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1094G>C	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839407	0.32513	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.8;1.9;1.82;1.9;0.8;1.38;1.94;0.79	4.89	3.98	0.46160	.	0.093342	0.85682	D	0.000000	T	0.24044	0.0582	N	0.12637	0.245	0.33958	D	0.645213	B;B;B;B	0.27791	0.189;0.189;0.189;0.039	B;B;B;B	0.25506	0.024;0.024;0.024;0.061	T	0.25572	-1.0128	10	0.10377	T	0.69	-7.1558	9.1045	0.36689	0.0:0.8292:0.0:0.1708	.	365;379;365;92	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	T	92;92;365;379;365;26;130;365;235	ENSP00000409146:S92T;ENSP00000377400:S92T;ENSP00000317903:S365T;ENSP00000385839:S379T;ENSP00000351784:S365T;ENSP00000408536:S26T;ENSP00000394676:S130T;ENSP00000385169:S365T;ENSP00000450411:S235T	ENSP00000317903:S365T	S	-	2	0	R3HDM2	55963909	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	1.434000	0.34958	2.544000	0.85801	0.555000	0.69702	AGT		0.532	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
PTPRR	5801	broad.mit.edu	37	12	71286523	71286523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:71286523G>A	ENST00000283228.2	-	2	745	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	98					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACCATCCATGGCCAGCAGATT	0.458																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(292-294)gCc>gTc		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							198.0	189.0	192.0					12																	71286523		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286523G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.293C>T	12.37:g.71286523G>A	ENSP00000283228:p.Ala98Val						p.A98V	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	1	707	-			98					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.293C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738533	0.69304	.	.	ENSG00000153233	ENST00000283228	T	0.05649	3.41	6.05	6.05	0.98169	.	0.000000	0.41396	U	0.000887	T	0.07773	0.0195	L	0.29908	0.895	0.80722	D	1	P	0.42456	0.78	B	0.38106	0.265	T	0.08046	-1.0741	10	0.87932	D	0	-9.8689	19.5894	0.95501	0.0:0.0:1.0:0.0	.	98	Q15256	PTPRR_HUMAN	V	98	ENSP00000283228:A98V	ENSP00000283228:A98V	A	-	2	0	PTPRR	69572790	1.000000	0.71417	0.893000	0.35052	0.192000	0.23643	4.021000	0.57196	2.878000	0.98634	0.650000	0.86243	GCC		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
MYF5	4617	broad.mit.edu	37	12	81110965	81110965	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617																																						uc001szg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(121-123)gcG>gcA		Homo sapiens myogenic factor 5 (MYF5), mRNA.							37.0	34.0	35.0					12																	81110965		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110965G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.123G>A	12.37:g.81110965G>A							p.A41A	NM_005593	NP_005584	P13349	MYF5_HUMAN			0	258	+			41					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.123G>A	CCDS9020.1																																																																																				0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
ALX1	8092	broad.mit.edu	37	12	85695019	85695019	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:85695019G>A	ENST00000316824.3	+	4	902	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	249					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTCCTGTATGACACCTTATT	0.453																																						uc001tae.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(745-747)atG>atA		Homo sapiens ALX homeobox 1 (ALX1), mRNA.							148.0	136.0	140.0					12																	85695019		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695019G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.747G>A	12.37:g.85695019G>A	ENSP00000315417:p.Met249Ile						p.M249I	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	751	+			249					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.747G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125110	0.37533	.	.	ENSG00000180318	ENST00000316824	D	0.92299	-3.01	5.99	5.99	0.97316	.	0.132226	0.64402	D	0.000001	D	0.92231	0.7536	L	0.55213	1.73	0.49483	D	0.999791	P	0.48998	0.918	P	0.46110	0.504	D	0.91609	0.5301	10	0.48119	T	0.1	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	249	Q15699	ALX1_HUMAN	I	249	ENSP00000315417:M249I	ENSP00000315417:M249I	M	+	3	0	ALX1	84219150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.174000	0.58256	2.840000	0.97914	0.655000	0.94253	ATG		0.453	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
HAL	3034	broad.mit.edu	37	12	96389510	96389510	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:96389510C>T	ENST00000261208.3	-	2	547	c.179G>A	c.(178-180)gGc>gAc	p.G60D	RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.G60D	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	60					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCAGGCCCTTGCACCG	0.642																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(178-180)gGc>gAc		Homo sapiens histidine ammonia-lyase (HAL), mRNA.	L-Histidine(DB00117)						63.0	55.0	58.0					12																	96389510		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389510C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.179G>A	12.37:g.96389510C>T	ENSP00000261208:p.Gly60Asp					HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	p.G60D	NM_002108	NP_002099	P42357	HUTH_HUMAN			1	476	-			60					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.179G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157843	0.94686	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.87809	-1.41;-1.35;-2.3	5.29	5.29	0.74685	.	0.044283	0.85682	D	0.000000	D	0.89842	0.6832	L	0.57536	1.79	0.80722	D	1	D;D	0.59357	0.985;0.969	P;B	0.51657	0.676;0.439	D	0.90767	0.4669	10	0.72032	D	0.01	-21.3947	19.2839	0.94063	0.0:1.0:0.0:0.0	.	60;60	F5GXF2;P42357	.;HUTH_HUMAN	D	60	ENSP00000261208:G60D;ENSP00000440861:G60D;ENSP00000450372:G60D	ENSP00000261208:G60D	G	-	2	0	HAL	94913641	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.445000	0.80570	2.629000	0.89072	0.561000	0.74099	GGC		0.642	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
KL	9365	broad.mit.edu	37	13	33629339	33629339	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:33629339T>C	ENST00000380099.3	+	3	1494	c.1486T>C	c.(1486-1488)Ttc>Ctc	p.F496L	KL_ENST00000426690.2_Missense_Mutation_p.F189L|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	496	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCAGCCTTGTTCTACCAAAA	0.463																																						uc001uus.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1486-1488)Ttc>Ctc		Homo sapiens klotho (KL), mRNA.							172.0	151.0	159.0					13																	33629339		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33629339T>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1486T>C	13.37:g.33629339T>C	ENSP00000369442:p.Phe496Leu					KL_uc001uur.1_Missense_Mutation_p.F189L	p.F496L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1494	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	496			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1486T>C	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883915	0.91814	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.36520	1.25;1.25	6.03	6.03	0.97812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.55834	1.745	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.79108	0.932;0.992	T	0.56798	-0.7919	10	0.59425	D	0.04	-33.028	16.5582	0.84512	0.0:0.0:0.0:1.0	.	496;189	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	L	189;496	ENSP00000399513:F189L;ENSP00000369442:F496L	ENSP00000369442:F496L	F	+	1	0	KL	32527339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.090000	0.64498	2.308000	0.77769	0.533000	0.62120	TTC		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
MYO16	23026	broad.mit.edu	37	13	109859183	109859183	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:109859183G>A	ENST00000357550.2	+	34	5617	c.5576G>A	c.(5575-5577)tGa>tAa	p.*1859*	MYO16_ENST00000356711.2_Silent_p.*1859*	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCACCATTTGATGTGGCCTG	0.572																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5641-5643)tGa>tAa		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							26.0	24.0	25.0					13																	109859183		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859183G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5576G>A	13.37:g.109859183G>A						MYO16_uc001vqt.1_Silent_p.*1859*	p.*1881*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		34	6264	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		0						Silent	SNP	ENST00000357550.2	37	c.5642G>A	CCDS32008.1																																																																																				0.572	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
OR5AU1	390445	broad.mit.edu	37	14	21623219	21623219	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:21623219G>A	ENST00000304418.3	-	1	1003	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	322						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAACTGTGCGGTCCTGGGTCA	0.493																																						uc010tlp.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(964-966)gaC>gaT		Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.							114.0	107.0	109.0					14																	21623219		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623219G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.966C>T	14.37:g.21623219G>A							p.D322D	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	0	966	-	all_cancers(95;0.00238)		322					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.966C>T	CCDS32042.1																																																																																				0.493	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
HEATR5A	25938	broad.mit.edu	37	14	31782317	31782317	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:31782317C>T	ENST00000389961.3	-	27	4279	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1433K|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1140K|AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1427K			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1427										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGATCCATTTCTGATACCGTC	0.398																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(4297-4299)aGa>aAa		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							267.0	259.0	261.0					14																	31782317		1970	4151	6121	SO:0001583	missense	25938						binding	g.chr14:31782317C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4280G>A	14.37:g.31782317C>T	ENSP00000374611:p.Arg1427Lys					HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K	p.R1433K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	27	4483	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1427					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.4298G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.912|6.912	0.537786|0.537786	0.13188|0.13188	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.41400	.|1.0;1.0;1.0;1.0	4.81|4.81	3.92|3.92	0.45320|0.45320	.|.	.|0.290510	.|0.38005	.|N	.|0.001854	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.10450	.|0.005	T|T	0.08249|0.08249	-1.0731|-1.0731	5|10	.|0.09084	.|T	.|0.74	.|.	9.5225|9.5225	0.39145|0.39145	0.0:0.8385:0.0:0.1615|0.0:0.8385:0.0:0.1615	.|.	.|1427	.|Q86XA9-2	.|.	K|K	1061|1427;1427;1140;1433	.|ENSP00000374611:R1427K;ENSP00000405407:R1427K;ENSP00000408681:R1140K;ENSP00000437968:R1433K	.|ENSP00000374611:R1427K	E|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30852068|30852068	0.908000|0.908000	0.30866|0.30866	0.161000|0.161000	0.22692|0.22692	0.314000|0.314000	0.28054|0.28054	1.573000|1.573000	0.36472|0.36472	1.149000|1.149000	0.42402|0.42402	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
SRP54	6729	broad.mit.edu	37	14	35470222	35470222	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:35470222T>C	ENST00000556994.1	+	5	648	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SRP54_ENST00000555557.1_Missense_Mutation_p.V20A|SRP54_ENST00000546080.1_Missense_Mutation_p.V35A|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000216774.6_Missense_Mutation_p.V84A			P61011	SRP54_HUMAN	signal recognition particle 54kDa	84	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAACTTGTGAAGGTAAAA	0.313																																						uc001wso.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(250-252)gTg>gCg		Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.							65.0	62.0	63.0					14																	35470222		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35470222T>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.251T>C	14.37:g.35470222T>C	ENSP00000451818:p.Val84Ala					SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A	p.V84A	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	3	602	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		84			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.251T>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.223078	0.79464	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.64	5.64	0.86602	Signal recognition particle, SRP54 subunit, helical bundle (3);	0.056753	0.64402	D	0.000001	T	0.61198	0.2328	L	0.46947	1.48	0.80722	D	1	B;B	0.33883	0.229;0.43	B;B	0.38880	0.194;0.284	T	0.62378	-0.6867	9	0.49607	T	0.09	-19.9822	16.1689	0.81788	0.0:0.0:0.0:1.0	.	35;84	B4DUW6;P61011	.;SRP54_HUMAN	A	84;84;35;20	.	ENSP00000216774:V84A	V	+	2	0	SRP54	34539973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.816000	0.86201	2.278000	0.76064	0.523000	0.50628	GTG		0.313	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
SPINT1	6692	broad.mit.edu	37	15	41137192	41137192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr15:41137192G>A	ENST00000344051.4	+	2	674	c.440G>A	c.(439-441)cGc>cAc	p.R147H	RP11-532F12.5_ENST00000568419.1_RNA|SPINT1_ENST00000562057.1_Missense_Mutation_p.R147H|RP11-532F12.5_ENST00000565315.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000431806.1_Missense_Mutation_p.R147H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	147					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAAGTGTACCGCTCCTACCGC	0.582																																						uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(439-441)cGc>cAc		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.							37.0	38.0	38.0					15																	41137192		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41137192G>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.440G>A	15.37:g.41137192G>A	ENSP00000342098:p.Arg147His					SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H	p.R147H	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	644	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	147					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.440G>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733394	0.30684	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95447	-3.71;-3.71	5.46	0.861	0.19048	.	1.285790	0.04575	N	0.393991	D	0.91088	0.7195	L	0.31294	0.92	0.09310	N	0.999991	B;B;B	0.12013	0.005;0.003;0.004	B;B;B	0.09377	0.001;0.004;0.002	T	0.80549	-0.1333	10	0.42905	T	0.14	-9.1259	6.3924	0.21593	0.5857:0.0:0.4143:0.0	.	147;147;147	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	H	147;114;147	ENSP00000342098:R147H;ENSP00000409935:R147H	ENSP00000342098:R147H	R	+	2	0	SPINT1	38924484	0.950000	0.32346	0.551000	0.28230	0.411000	0.31082	0.527000	0.22987	0.269000	0.21961	0.563000	0.77884	CGC		0.582	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
TPSAB1	7177	broad.mit.edu	37	16	1291199	1291199	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:1291199A>G	ENST00000338844.3	+	3	140	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TPSAB1_ENST00000461509.2_Missense_Mutation_p.E43G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGGGGTCAGGAGGCCCCCAGG	0.711																																						uc002ckz.3																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(106-108)gAg>gGg		Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.							43.0	43.0	43.0					16																	1291199		2199	4300	6499	SO:0001583	missense	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291199A>G	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.107A>G	16.37:g.1291199A>G	ENSP00000343577:p.Glu36Gly					TPSAB1_uc010uux.2_5'UTR	p.E36G	NM_003294	NP_003285	P20231	TRYB2_HUMAN			2	159	+		Hepatocellular(780;0.00369)	36			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.107A>G	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252145	0.59212	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.89810	-2.57;-2.57	3.9	3.9	0.45041	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000170	D	0.93291	0.7862	M	0.79614	2.46	0.31413	N	0.675222	D	0.89917	1.0	D	0.91635	0.999	D	0.91978	0.5592	10	0.51188	T	0.08	.	11.0426	0.47840	1.0:0.0:0.0:0.0	.	36	Q15661	TRYB1_HUMAN	G	36;43	ENSP00000343577:E36G;ENSP00000418247:E43G	ENSP00000343577:E36G	E	+	2	0	TPSAB1	1231200	0.000000	0.05858	0.982000	0.44146	0.497000	0.33675	0.042000	0.13949	1.551000	0.49450	0.392000	0.25879	GAG		0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294	
MYH11	4629	broad.mit.edu	37	16	15813552	15813552	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:15813552G>C	ENST00000300036.5	-	35	5081	c.4972C>G	c.(4972-4974)Caa>Gaa	p.Q1658E	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.Q1665E|MYH11_ENST00000396324.3_Missense_Mutation_p.Q1665E|MYH11_ENST00000576790.2_Missense_Mutation_p.Q1658E|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1658					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCTCTTTGAAAGTCCTTC	0.517			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4993-4995)Caa>Gaa		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							126.0	117.0	120.0					16																	15813552		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813552G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4972C>G	16.37:g.15813552G>C	ENSP00000300036:p.Gln1658Glu					MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	p.Q1665E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			35	5100	-			1658					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4993C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725268	0.48833	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.07	5.07	0.68467	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.70903	2.155	0.80722	D	1	B;P;P;B;B	0.37015	0.01;0.578;0.578;0.01;0.004	B;B;B;B;B	0.43018	0.033;0.405;0.405;0.033;0.012	D	0.86020	0.1506	10	0.87932	D	0	.	17.4317	0.87541	0.0:0.0:1.0:0.0	.	1665;1658;1665;1658;1665	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	E	1658;1658;1665;1665;1665	ENSP00000300036:Q1658E;ENSP00000345136:Q1658E;ENSP00000379616:Q1665E;ENSP00000407821:Q1665E	ENSP00000300036:Q1658E	Q	-	1	0	MYH11	15721053	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.164000	0.64954	2.351000	0.79841	0.563000	0.77884	CAA		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
SMG1	23049	broad.mit.edu	37	16	18830977	18830977	+	Splice_Site	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:18830977C>T	ENST00000446231.2	-	56	10154		c.e56-1		SMG1_ENST00000389467.3_Splice_Site			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase						DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGCTTCTCCTATAAAAGCC	0.413																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.e56-1		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.							31.0	29.0	30.0					16																	18830977		1862	4100	5962	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18830977C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9742-1G>A	16.37:g.18830977C>T						SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice	p.E3248_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			56	10105	-			3248					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Splice_Site	SNP	ENST00000446231.2	37	c.9742_splice	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161208	0.94727	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMG1	18738478	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	.		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Intron
DNAH3	55567	broad.mit.edu	37	16	21123036	21123036	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:21123036G>A	ENST00000261383.3	-	14	2009	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	DNAH3_ENST00000415178.1_Silent_p.A670A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	670	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGATTTAGGGCCGTAGCAT	0.418																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2008-2010)gcC>gcT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							160.0	135.0	143.0					16																	21123036		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21123036G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2010C>T	16.37:g.21123036G>A						DNAH3_uc002die.2_Silent_p.A610A	p.A670A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	13	2010	-			670			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.2010C>T	CCDS10594.1																																																																																				0.418	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
PRKCB	5579	broad.mit.edu	37	16	24166173	24166173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:24166173A>G	ENST00000321728.7	+	10	1409	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	PRKCB_ENST00000303531.7_Missense_Mutation_p.T412A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGCTTCCAGACCATGGTAAC	0.582																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1234-1236)Acc>Gcc		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						82.0	63.0	69.0					16																	24166173		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166173A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1234A>G	16.37:g.24166173A>G	ENSP00000318315:p.Thr412Ala					PRKCB_uc002dme.3_Missense_Mutation_p.T412A	p.T412A	NM_212535	NP_997700	P05771	KPCB_HUMAN			9	1431	+			412			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1234A>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761474	0.89932	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.66460	-0.21;-0.21	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110795	0.64402	D	0.000011	T	0.75133	0.3808	M	0.73319	2.225	0.80722	D	1	P;P	0.40360	0.667;0.714	B;P	0.48400	0.44;0.576	T	0.77920	-0.2407	10	0.87932	D	0	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	412;412	P05771-2;P05771	.;KPCB_HUMAN	A	412	ENSP00000318315:T412A;ENSP00000305355:T412A	ENSP00000305355:T412A	T	+	1	0	PRKCB	24073674	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ACC		0.582	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
OR3A2	4995	broad.mit.edu	37	17	3181702	3181702	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:3181702G>C	ENST00000408891.2	-	1	566	c.528C>G	c.(526-528)aaC>aaG	p.N176K	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	176					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGCCACAGAAGTTGAGCGTGG	0.567																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(526-528)aaC>aaG		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.							99.0	89.0	92.0					17																	3181702		2203	4297	6500	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181702G>C	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.528C>G	17.37:g.3181702G>C	ENSP00000386180:p.Asn176Lys						p.N176K	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	567	-			176					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.528C>G	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	G	0.650	-0.809805	0.02798	.	.	ENSG00000221882	ENST00000408891	T	0.36699	1.24	4.9	0.29	0.15728	GPCR, rhodopsin-like superfamily (1);	0.666605	0.13893	N	0.355477	T	0.17534	0.0421	N	0.11756	0.17	0.09310	N	0.999997	B	0.09022	0.002	B	0.15484	0.013	T	0.16928	-1.0386	10	0.59425	D	0.04	-2.6763	4.1414	0.10194	0.1534:0.1262:0.591:0.1294	.	176	P47893	OR3A2_HUMAN	K	176	ENSP00000386180:N176K	ENSP00000386180:N176K	N	-	3	2	OR3A2	3128452	0.162000	0.22906	0.559000	0.28332	0.078000	0.17371	0.155000	0.16362	0.340000	0.23745	-0.258000	0.10820	AAC		0.567	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1		
KRT40	125115	broad.mit.edu	37	17	39140113	39140113	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:39140113C>T	ENST00000398486.2	-	3	573	c.413G>A	c.(412-414)cGt>cAt	p.R138H	KRT40_ENST00000377755.4_Missense_Mutation_p.R138H	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	138	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R138P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483																																						uc010cxh.1																			1	Substitution - Missense(1)	p.R138P(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(412-414)cGt>cAt		Homo sapiens keratin 40 (KRT40), mRNA.							182.0	176.0	178.0					17																	39140113		2159	4271	6430	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39140113C>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.413G>A	17.37:g.39140113C>T	ENSP00000381500:p.Arg138His					KRT40_uc002hvq.1_Non-coding_Transcript	p.R138H	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			2	574	-		Breast(137;0.00043)	138			Coil 1B.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.413G>A	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905556	0.17760	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88586	-2.4;-2.4	5.3	3.32	0.38043	Filament (1);	0.844176	0.09752	N	0.760421	T	0.80325	0.4602	N	0.03917	-0.325	0.09310	N	1	B	0.29162	0.235	B	0.42995	0.404	T	0.70956	-0.4731	10	0.27082	T	0.32	.	6.7152	0.23300	0.0:0.6501:0.1295:0.2204	.	138	Q6A162	K1C40_HUMAN	H	138	ENSP00000366984:R138H;ENSP00000381500:R138H	ENSP00000366984:R138H	R	-	2	0	KRT40	36393639	0.000000	0.05858	0.925000	0.36789	0.005000	0.04900	0.408000	0.21065	0.745000	0.32763	-0.952000	0.02654	CGT		0.483	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						uc002ile.4																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1378-1380)ctafs		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L460fs	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			10	1506	-			454	Missing (in Ref. 1; AAA60471).				G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1379delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
SERPINB4	6318	broad.mit.edu	37	18	61309010	61309010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr18:61309010G>A	ENST00000341074.5	-	4	450	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SERPINB4_ENST00000356424.6_Missense_Mutation_p.T112M	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	112					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T112M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAATTGATACGTCTTTTCTCC	0.423																																						uc002ljf.3																			1	Substitution - Missense(1)	p.T112T(2)|p.T112M(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(334-336)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							252.0	232.0	239.0					18																	61309010		2203	4300	6503	SO:0001583	missense	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61309010G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.335C>T	18.37:g.61309010G>A	ENSP00000343445:p.Thr112Met					SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron	p.T112M	NM_002974	NP_002965	P29508	SPB3_HUMAN			3	421	-			112					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.335C>T	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.24|10.24	1.295173|1.295173	0.23564|0.23564	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424	.|D;D	.|0.83506	.|-1.73;-1.73	3.76|3.76	-7.53|-7.53	0.01336|0.01336	.|Serpin domain (3);	.|1.690210	.|0.03639	.|N	.|0.239107	T|T	0.78648|0.78648	0.4316|0.4316	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39003	.|0.135;0.654	.|B;B	.|0.39617	.|0.07;0.305	T|T	0.71481|0.71481	-0.4580|-0.4580	5|10	.|0.62326	.|D	.|0.03	.|.	4.0327|4.0327	0.09716|0.09716	0.0743:0.2038:0.2462:0.4757|0.0743:0.2038:0.2462:0.4757	.|.	.|112;112	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	C|M	114|112	.|ENSP00000343445:T112M;ENSP00000348795:T112M	.|ENSP00000343445:T112M	R|T	-|-	1|2	0|0	SERPINB4|SERPINB4	59459990|59459990	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.029000|-0.029000	0.12329|0.12329	-1.817000|-1.817000	0.01219|0.01219	-0.180000|-0.180000	0.13094|0.13094	CGT|ACG		0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
BEST2	54831	broad.mit.edu	37	19	12863444	12863444	+	Missense_Mutation	SNP	G	G	A	rs368197840		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:12863444G>A	ENST00000549706.1	+	2	362	c.38G>A	c.(37-39)cGc>cAc	p.R13H	BEST2_ENST00000042931.1_Missense_Mutation_p.R13H|BEST2_ENST00000553030.1_Missense_Mutation_p.R13H			Q8NFU1	BEST2_HUMAN	bestrophin 2	13					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGAACGCCCGCTTCGGTGGC	0.657																																						uc002mux.3																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(37-39)cGc>cAc		Homo sapiens bestrophin 2 (BEST2), mRNA.		G	HIS/ARG	0,4222		0,0,2111	53.0	56.0	55.0		38	3.2	1.0	19		55	1,8443		0,1,4221	no	missense	BEST2	NM_017682.2	29	0,1,6332	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	13/510	12863444	1,12665	2111	4222	6333	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12863444G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.38G>A	19.37:g.12863444G>A	ENSP00000448310:p.Arg13His						p.R13H	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			0	38	+			13					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.38G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135268	0.77662	0.0	1.18E-4	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98060	-4.69;-4.69;-4.69	3.21	3.21	0.36854	.	0.000000	0.53938	U	0.000051	D	0.96614	0.8895	M	0.69358	2.11	0.47037	D	0.999291	P	0.37083	0.581	B	0.39971	0.315	D	0.97237	0.9888	10	0.66056	D	0.02	-24.602	14.0094	0.64486	0.0:0.0:1.0:0.0	.	13	Q8NFU1	BEST2_HUMAN	H	13	ENSP00000448310:R13H;ENSP00000447203:R13H;ENSP00000042931:R13H	ENSP00000042931:R13H	R	+	2	0	BEST2	12724444	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	4.407000	0.59754	1.768000	0.52137	0.313000	0.20887	CGC		0.657	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	
SLC35E1	79939	broad.mit.edu	37	19	16664592	16664592	+	Silent	SNP	G	G	A	rs139815009		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:16664592G>A	ENST00000595753.1	-	6	1148	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.11_ENST00000597357.1_RNA|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	377					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATAGTCCCCGTGCTGGGGGA	0.582																																						uc010xph.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1129-1131)caC>caT		Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.		G		0,4406		0,0,2203	133.0	126.0	129.0		1131	-5.4	0.0	19	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC35E1	NM_024881.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		377/411	16664592	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16664592G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1131C>T	19.37:g.16664592G>A						MED26_uc002nee.2_Non-coding_Transcript	p.H377H	NM_024881	NP_079157	Q96K37	S35E1_HUMAN			5	1149	-			377					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.1131C>T	CCDS12346.2																																																																																				0.582	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881	
FCGBP	8857	broad.mit.edu	37	19	40411954	40411954	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:40411954T>C	ENST00000221347.6	-	7	3681	c.3674A>G	c.(3673-3675)gAg>gGg	p.E1225G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1225	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGAGGACTCACAGGACAC	0.677																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3673-3675)gAg>gGg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							48.0	48.0	48.0					19																	40411954		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411954T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3674A>G	19.37:g.40411954T>C	ENSP00000221347:p.Glu1225Gly						p.E1225G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3682	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1225			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3674A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	7.503	0.653149	0.14580	.	.	ENSG00000090920	ENST00000221347	T	0.05382	3.45	4.39	2.11	0.27256	.	2.209180	0.03144	N	0.167016	T	0.16769	0.0403	M	0.63428	1.95	0.09310	N	1	P	0.41947	0.766	P	0.53988	0.739	T	0.19160	-1.0314	10	0.25106	T	0.35	.	6.1694	0.20408	0.1334:0.0:0.2537:0.6129	.	1225	Q9Y6R7	FCGBP_HUMAN	G	1225	ENSP00000221347:E1225G	ENSP00000221347:E1225G	E	-	2	0	FCGBP	45103794	0.000000	0.05858	0.028000	0.17463	0.019000	0.09904	0.175000	0.16762	0.704000	0.31869	0.358000	0.22013	GAG		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CYP2B6	1555	broad.mit.edu	37	19	41515193	41515193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:41515193C>T	ENST00000324071.4	+	5	722	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	239					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CAAAAACCTGCAGGAAATCAA	0.522																																						uc002opr.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(715-717)Cag>Tag		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						103.0	102.0	102.0					19																	41515193		2202	4300	6502	SO:0001587	stop_gained	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515193C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.715C>T	19.37:g.41515193C>T	ENSP00000324648:p.Gln239*					CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	p.Q239*	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	722	+			239					B4DWP3|Q2V565|Q9UK46	Nonsense_Mutation	SNP	ENST00000324071.4	37	c.715C>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797783	0.50208	.	.	ENSG00000197408	ENST00000324071	.	.	.	4.51	-0.767	0.11016	.	0.646937	0.15434	N	0.262532	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.615	0.28152	0.4175:0.3097:0.2728:0.0	.	.	.	.	X	239	.	ENSP00000324648:Q239X	Q	+	1	0	CYP2B6	46207033	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.061000	0.14366	0.122000	0.18314	0.313000	0.20887	CAG		0.522	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
APOB	338	broad.mit.edu	37	2	21229086	21229086	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21229086C>G	ENST00000233242.1	-	26	10781	c.10654G>C	c.(10654-10656)Gga>Cga	p.G3552R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3552					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCTTCTCCAGCAAAATTT	0.443																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10654-10656)Gga>Cga		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						65.0	68.0	67.0					2																	21229086		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229086C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10654G>C	2.37:g.21229086C>G	ENSP00000233242:p.Gly3552Arg						p.G3552R	NM_000384	NP_000375	P04114	APOB_HUMAN			25	10782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3552					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10654G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026658	0.54683	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80393	-1.37	5.85	5.85	0.93711	.	0.112563	0.39475	N	0.001358	D	0.88085	0.6342	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.64042	0.921	D	0.88388	0.3006	10	0.62326	D	0.03	.	15.7433	0.77920	0.1371:0.8629:0.0:0.0	.	3552	P04114	APOB_HUMAN	R	3552	ENSP00000233242:G3552R	ENSP00000233242:G3552R	G	-	1	0	APOB	21082591	0.931000	0.31567	1.000000	0.80357	0.731000	0.41821	1.562000	0.36353	2.768000	0.95171	0.655000	0.94253	GGA		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21245793	21245793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21245793G>A	ENST00000233242.1	-	18	2853	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	909	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAGACCCGACTCGTGGAA	0.498																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2725-2727)tCg>tTg		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						85.0	79.0	81.0					2																	21245793		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245793G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2726C>T	2.37:g.21245793G>A	ENSP00000233242:p.Ser909Leu						p.S909L	NM_000384	NP_000375	P04114	APOB_HUMAN			17	2854	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		909			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2726C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759418	0.89932	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.16743	2.32	5.51	5.51	0.81932	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.237631	0.29609	N	0.011670	T	0.40694	0.1127	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	P	0.61275	0.886	T	0.14364	-1.0475	10	0.87932	D	0	.	19.7977	0.96492	0.0:0.0:1.0:0.0	.	909	P04114	APOB_HUMAN	L	909	ENSP00000233242:S909L	ENSP00000233242:S909L	S	-	2	0	APOB	21099298	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.726000	0.68515	2.765000	0.95021	0.655000	0.94253	TCG		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
NEB	4703	broad.mit.edu	37	2	152476016	152476016	+	Silent	SNP	G	G	A	rs375814899		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:152476016G>A	ENST00000172853.10	-	69	10239	c.10092C>T	c.(10090-10092)ccC>ccT	p.P3364P	NEB_ENST00000604864.1_Silent_p.P3607P|NEB_ENST00000603639.1_Silent_p.P3607P|NEB_ENST00000397345.3_Silent_p.P3607P|NEB_ENST00000427231.2_Silent_p.P3607P|NEB_ENST00000409198.1_Silent_p.P3364P			P20929	NEBU_HUMAN	nebulin	3364					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGGTCGGGCAGGCAGA	0.483																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10090-10092)ccC>ccT		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		G	,,	0,4066		0,0,2033	153.0	146.0	148.0		10821,10821,10092	-11.2	0.0	2		148	3,8393		0,3,4195	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,3,6228	AA,AG,GG		0.0357,0.0,0.0241	,,	3607/8526,3607/8526,3364/6670	152476016	3,12459	2033	4198	6231	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152476016G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10092C>T	2.37:g.152476016G>A						NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P	p.P3364P	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	67	10121	-			3364					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10092C>T																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
ZNF142	7701	broad.mit.edu	37	2	219509392	219509392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:219509392C>T	ENST00000449707.1	-	8	2268	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	ZNF142_ENST00000411696.2_Missense_Mutation_p.G616E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCATGGCCCCTTCTGGCTC	0.607																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0		p.W616L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1846-1848)gGg>gAg		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							43.0	46.0	45.0					2																	219509392		2023	4175	6198	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219509392C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1847G>A	2.37:g.219509392C>T	ENSP00000408643:p.Gly616Glu					ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E	p.G616E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	2283	-		Renal(207;0.0474)	616					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.1847G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	1.842	-0.467268	0.04476	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11169	2.8;2.8	5.95	2.11	0.27256	.	0.695879	0.15103	N	0.280406	T	0.07143	0.0181	L	0.51422	1.61	0.21933	N	0.999465	B;B	0.14805	0.009;0.011	B;B	0.14578	0.008;0.011	T	0.46345	-0.9198	10	0.02654	T	1	-9.4323	2.3972	0.04393	0.1732:0.4525:0.228:0.1463	.	616;453	P52746;A8MWU9	ZN142_HUMAN;.	E	616	ENSP00000408643:G616E;ENSP00000398798:G616E	ENSP00000398798:G616E	G	-	2	0	ZNF142	219217636	0.000000	0.05858	0.050000	0.19076	0.014000	0.08584	-0.209000	0.09358	0.108000	0.17862	-0.150000	0.13652	GGG		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
ASB18	401036	broad.mit.edu	37	2	237103656	237103656	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:237103656G>A	ENST00000409749.3	-	6	1259	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Silent_p.T391T	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	420	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGCAGCGTGGGGTGAGGGCCA	0.557																																						uc010znh.2																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(1258-1260)acC>acT		Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.							65.0	80.0	75.0					2																	237103656		2134	4253	6387	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237103656G>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1260C>T	2.37:g.237103656G>A							p.T420T	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	5	1260	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	420			SOCS box.		B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.1260C>T	CCDS46548.1																																																																																				0.557	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556	
BPIFA3	128861	broad.mit.edu	37	20	31811632	31811632	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:31811632T>C	ENST00000375454.3	+	2	353	c.143T>C	c.(142-144)cTc>cCc	p.L48P	BPIFA3_ENST00000375452.3_Missense_Mutation_p.L48P|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	48						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCTCAGGGCCTCATAAAGCAC	0.552																																						uc002wyr.3																			0											c.(142-144)cTc>cCc		Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.							107.0	89.0	95.0					20																	31811632		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31811632T>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.143T>C	20.37:g.31811632T>C	ENSP00000364603:p.Leu48Pro					BPIFA3_uc002wys.3_Missense_Mutation_p.L48P	p.L48P	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			1	351	+			48					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.143T>C	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979947	0.34942	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.52295	0.67;0.96	4.17	4.17	0.49024	.	0.000000	0.40554	N	0.001066	T	0.54631	0.1870	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.57516	-0.7798	10	0.87932	D	0	-16.4822	9.8995	0.41340	0.0:0.0:0.0:1.0	.	48;48	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	P	48	ENSP00000364603:L48P;ENSP00000364601:L48P	ENSP00000364601:L48P	L	+	2	0	BPIFA3	31275293	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.993000	0.49425	2.114000	0.64651	0.533000	0.62120	CTC		0.552	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	
CASS4	57091	broad.mit.edu	37	20	55021057	55021057	+	Splice_Site	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:55021057G>A	ENST00000360314.3	+	4	786	c.561G>A	c.(559-561)aaG>aaA	p.K187K	CASS4_ENST00000434344.1_Splice_Site_p.K187K|CASS4_ENST00000371336.3_Splice_Site_p.K187K	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	187					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGTCCTGAAGGTGAGCCTTG	0.622																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.e4+1		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							48.0	45.0	46.0					20																	55021057		2203	4300	6503	SO:0001630	splice_region_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55021057G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.561+1G>A	20.37:g.55021057G>A						CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice	p.K187_splice	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			4	786	+			187					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.561_splice	CCDS33492.1																																																																																				0.622	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	Silent
SCN10A	6336	broad.mit.edu	37	3	38743393	38743393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:38743393G>A	ENST00000449082.2	-	26	4593	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1532					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)			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)	AAGTAGTACTGCCTCAAAGCG	0.483																																						uc003ciq.3																			0				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.(4594-4596)Cag>Tag		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)						130.0	107.0	115.0					3																	38743393		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743393G>A	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.4594C>T	3.37:g.38743393G>A	ENSP00000390600:p.Gln1532*						p.Q1532*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4594	-			1532					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.4594C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	42	9.606955	0.99217	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.96	4.06	0.47325	.	0.419772	0.28700	N	0.014431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.6696	0.34143	0.2252:0.0:0.7748:0.0	.	.	.	.	X	1532	.	ENSP00000390600:Q1532X	Q	-	1	0	SCN10A	38718397	1.000000	0.71417	0.887000	0.34795	0.945000	0.59286	3.900000	0.56295	2.560000	0.86352	0.557000	0.71058	CAG		0.483	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
CCR5	1234	broad.mit.edu	37	3	46414869	46414869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:46414869C>T	ENST00000292303.4	+	2	622	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CCR5_ENST00000343801.4_Missense_Mutation_p.A159V|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.A159V	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	159					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTGTGTTTGCGTCTCTCCCA	0.468																																						uc003cpo.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(475-477)gCg>gTg		Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	Maraviroc(DB04835)						153.0	160.0	158.0					3																	46414869		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414869C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.476C>T	3.37:g.46414869C>T	ENSP00000292303:p.Ala159Val					CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V	p.A159V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	598	+			159					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.476C>T	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832002	0.16820	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.70045	-0.45;-0.45;-0.45	5.42	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.273213	0.25327	U	0.031479	T	0.56601	0.1996	L	0.33137	0.985	0.09310	N	1	B	0.21688	0.059	B	0.31290	0.127	T	0.52124	-0.8617	10	0.52906	T	0.07	.	10.9335	0.47233	0.0:0.7146:0.0:0.2854	.	159	P51681	CCR5_HUMAN	V	159;139;159;159	ENSP00000343985:A159V;ENSP00000292303:A159V;ENSP00000404881:A159V	ENSP00000292303:A159V	A	+	2	0	CCR5	46389873	0.000000	0.05858	0.021000	0.16686	0.259000	0.26198	-0.151000	0.10175	0.143000	0.18926	0.561000	0.74099	GCG		0.468	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579	
SEMA3G	56920	broad.mit.edu	37	3	52469856	52469856	+	Silent	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:52469856C>T	ENST00000231721.2	-	16	2111	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	704					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGTACCAGGCCTTGGGTGGGG	0.642																																						uc003dea.1																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2110-2112)aaG>aaA		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.							71.0	79.0	77.0					3																	52469856		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469856C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2112G>A	3.37:g.52469856C>T							p.K704K	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	15	2112	-			704					Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.2112G>A	CCDS2856.1																																																																																				0.642	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
EAF2	55840	broad.mit.edu	37	3	121573665	121573665	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:121573665A>T	ENST00000273668.2	+	3	404	c.333A>T	c.(331-333)aaA>aaT	p.K111N	EAF2_ENST00000451944.2_Missense_Mutation_p.K111N	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	111					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTGTAAAAAAAACAAGGTATG	0.254																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(331-333)aaA>aaT		Homo sapiens ELL associated factor 2 (EAF2), mRNA.							44.0	49.0	48.0					3																	121573665		2201	4295	6496	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573665A>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.333A>T	3.37:g.121573665A>T	ENSP00000273668:p.Lys111Asn					EAF2_uc003eeo.3_Intron	p.K111N	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	2	432	+			111					Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.333A>T	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668010	0.67814	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.93	3.74	0.42951	Transcription elognation factor  Eaf, N-terminal (1);	0.043333	0.85682	N	0.000000	T	0.69287	0.3094	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.68693	-0.5341	9	0.66056	D	0.02	-10.5862	4.8326	0.13449	0.7129:0.1922:0.0949:0.0	.	111	Q96CJ1	EAF2_HUMAN	N	111	.	ENSP00000273668:K111N	K	+	3	2	EAF2	123056355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.357000	0.52277	0.848000	0.35191	0.533000	0.62120	AAA		0.254	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	
MBNL1	4154	broad.mit.edu	37	3	152163096	152163096	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:152163096A>T	ENST00000463374.1	+	4	1086	c.575A>T	c.(574-576)aAt>aTt	p.N192I	MBNL1_ENST00000324210.5_Missense_Mutation_p.N192I|MBNL1_ENST00000357472.3_Missense_Mutation_p.N192I|MBNL1_ENST00000324196.5_Missense_Mutation_p.N192I|MBNL1_ENST00000355460.2_Missense_Mutation_p.N192I|MBNL1_ENST00000485509.1_Missense_Mutation_p.N192I|MBNL1_ENST00000493459.1_Missense_Mutation_p.N135I|MBNL1_ENST00000282488.7_Missense_Mutation_p.N124I|MBNL1_ENST00000282486.6_Missense_Mutation_p.N192I|MBNL1_ENST00000492948.1_Missense_Mutation_p.N192I|MBNL1_ENST00000545754.1_Missense_Mutation_p.N124I|MBNL1_ENST00000485910.1_Missense_Mutation_p.N124I|MBNL1_ENST00000498502.1_Missense_Mutation_p.N192I	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	192					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACGTGGCAATTGCAACCGA	0.403																																						uc003ezm.3																			0		p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(574-576)aAt>aTt		Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.							123.0	98.0	107.0					3																	152163096		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152163096A>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.575A>T	3.37:g.152163096A>T	ENSP00000418108:p.Asn192Ile					MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I	p.N192I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	1364	+			192					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.575A>T	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378635|4.378635	0.82682|0.82682	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67040|0.67040	0.2851|0.2851	M|M	0.83692|0.83692	2.655|2.655	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D;P;D;D;D;P;P	.|0.89917	.|0.979;0.992;1.0;0.951;0.987;0.979;0.99;0.953;0.714	.|D;D;D;P;P;P;D;P;P	.|0.91635	.|0.913;0.917;0.999;0.733;0.894;0.908;0.93;0.851;0.521	T|T	0.70037|0.70037	-0.4982|-0.4982	5|10	.|0.44086	.|T	.|0.13	-8.5125|-8.5125	15.2971|15.2971	0.73916|0.73916	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|192;192;124;124;192;192;135;192;192	.|C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;.;MBNL1_HUMAN;.;.;.;.	F|I	191|192;124;192;135;192;100;192;192;124;192;124;192;124;192;192;95	.|ENSP00000282486:N192I;ENSP00000282488:N124I;ENSP00000347637:N192I;ENSP00000419347:N135I;ENSP00000319429:N192I;ENSP00000420680:N100I;ENSP00000420327:N192I;ENSP00000319374:N192I;ENSP00000437491:N124I;ENSP00000350064:N192I;ENSP00000418427:N124I;ENSP00000418108:N192I;ENSP00000417630:N124I;ENSP00000420103:N192I;ENSP00000418876:N192I;ENSP00000418508:N95I	.|ENSP00000282486:N192I	I|N	+|+	1|2	0|0	MBNL1|MBNL1	153645786|153645786	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.994000|0.994000	0.84299|0.84299	7.316000|7.316000	0.79007|0.79007	2.012000|2.012000	0.59069|0.59069	0.482000|0.482000	0.46254|0.46254	ATT|AAT		0.403	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, 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.R88Q(53)		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)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	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	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.R88Q(102)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(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.(262-264)cGa>cAa		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							107.0	102.0	104.0					3																	178916876		1821	4078	5899	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.chr3:178916876G>A		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.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	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)		1	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TXK	7294	broad.mit.edu	37	4	48106929	48106929	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:48106929A>G	ENST00000264316.4	-	6	575	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	RNU6-838P_ENST00000363399.1_RNA|TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	164	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTTGTCTCAATAGATGTTCT	0.254																																						uc003gxx.4																			0		p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(490-492)Ttg>Ctg		Homo sapiens TXK tyrosine kinase (TXK), mRNA.							112.0	109.0	110.0					4																	48106929		2202	4287	6489	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48106929A>G	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.490T>C	4.37:g.48106929A>G						TXK_uc003gxy.1_Silent_p.L164L	p.L164L	NM_003328	NP_003319	P42681	TXK_HUMAN			5	576	-			164			SH2.		Q14220	Silent	SNP	ENST00000264316.4	37	c.490T>C	CCDS3480.1																																																																																				0.254	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:77283442C>A	ENST00000388914.3	-	12	2009	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393																																						uc003hkb.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1855-1857)aaG>aaT		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							124.0	119.0	121.0					4																	77283442		1886	4117	6003	SO:0001583	missense	339965							g.chr4:77283442C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1857G>T	4.37:g.77283442C>A	ENSP00000373566:p.Lys619Asn						p.K619N	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			11	2010	-			619					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1857G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706401	0.68615	.	.	ENSG00000163749	ENST00000388914	T	0.38077	1.16	5.74	2.68	0.31781	.	0.219123	0.37304	N	0.002149	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D	0.56035	0.974	P	0.51415	0.669	T	0.03221	-1.1059	10	0.34782	T	0.22	.	5.1237	0.14873	0.0:0.5294:0.0:0.4706	.	619	Q5M9N0	CD158_HUMAN	N	619	ENSP00000373566:K619N	ENSP00000373566:K619N	K	-	3	2	CCDC158	77502466	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.259000	0.32956	0.781000	0.33589	0.563000	0.77884	AAG		0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1205	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3613-3615)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							78.0	79.0	78.0					5																	13871097		2202	4299	6501	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871097C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3613G>A	5.37:g.13871097C>T	ENSP00000265104:p.Ala1205Thr						p.A1205T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			23	3655	-	Lung NSC(4;0.00476)		1205			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3613G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574570	0.13623	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.84	-0.97	0.10306	.	0.252609	0.40554	N	0.001072	T	0.19604	0.0471	L	0.53249	1.67	0.25648	N	0.986122	B	0.11235	0.004	B	0.12837	0.008	T	0.19647	-1.0299	10	0.29301	T	0.29	.	7.7442	0.28858	0.4776:0.4316:0.0:0.0908	.	1205	Q8TE73	DYH5_HUMAN	T	1205	ENSP00000265104:A1205T	ENSP00000265104:A1205T	A	-	1	0	DNAH5	13924097	0.400000	0.25295	0.002000	0.10522	0.060000	0.15804	0.779000	0.26746	-0.541000	0.06257	-0.152000	0.13540	GCC		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MROH2B	133558	broad.mit.edu	37	5	41051145	41051145	+	Silent	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:41051145T>C	ENST00000399564.4	-	13	1728	c.1278A>G	c.(1276-1278)gaA>gaG	p.E426E	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	426																	CTCGGACAGATTCCTCTTCCT	0.423																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(1276-1278)gaA>gaG		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							85.0	86.0	86.0					5																	41051145		1847	4088	5935	SO:0001819	synonymous_variant	133558						binding	g.chr5:41051145T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1278A>G	5.37:g.41051145T>C						HEATR7B2_uc003jmi.4_5'UTR	p.E426E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1768	-			426					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.1278A>G	CCDS47202.1																																																																																				0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
PCDHA3	56145	broad.mit.edu	37	5	140181903	140181903	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:140181903T>C	ENST00000522353.2	+	1	1121	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V374A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CTGATCAGCGTGTCCGACCGC	0.483																																						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.(1120-1122)gTg>gCg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							125.0	119.0	121.0					5																	140181903		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181903T>C	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.1121T>C	5.37:g.140181903T>C	ENSP00000429808:p.Val374Ala					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A	p.V374A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1121	+			389			Cadherin 4.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1121T>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	14.25	2.478580	0.44044	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38077	1.16;1.16	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.37623	U	0.002008	T	0.41419	0.1158	N	0.13198	0.31	0.37200	D	0.904357	D;D	0.56035	0.962;0.974	P;D	0.65010	0.85;0.931	T	0.54761	-0.8245	10	0.66056	D	0.02	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	374;374	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	A	374	ENSP00000429808:V374A;ENSP00000434086:V374A	ENSP00000429808:V374A	V	+	2	0	PCDHA3	140162087	1.000000	0.71417	0.623000	0.29173	0.012000	0.07955	8.010000	0.88615	1.925000	0.55765	0.383000	0.25322	GTG		0.483	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
GLRA1	2741	broad.mit.edu	37	5	151230995	151230995	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:151230995T>A	ENST00000455880.2	-	7	1154	c.868A>T	c.(868-870)Acc>Tcc	p.T290S	GLRA1_ENST00000274576.4_Missense_Mutation_p.T290S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.T207S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	290					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTCATGGTGAGCACAGTG	0.547																																						uc003lut.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(868-870)Acc>Tcc		Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						129.0	113.0	119.0					5																	151230995		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151230995T>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.868A>T	5.37:g.151230995T>A	ENSP00000411593:p.Thr290Ser					GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S	p.T290S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	1155	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	290					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.868A>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615108	0.87359	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.84730	-1.89;-1.89;-1.89	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.70108	2.13	0.58432	D	0.99999	D;D;D	0.89917	0.99;1.0;0.998	D;D;D	0.91635	0.932;0.999;0.998	D	0.92047	0.5645	10	0.56958	D	0.05	.	15.3687	0.74545	0.0:0.0:0.0:1.0	.	290;207;290	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	290;290;207	ENSP00000274576:T290S;ENSP00000411593:T290S;ENSP00000445913:T207S	ENSP00000274576:T290S	T	-	1	0	GLRA1	151211188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.086000	0.62901	0.533000	0.62120	ACC		0.547	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
ZNF165	7718	broad.mit.edu	37	6	28056507	28056507	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:28056507A>G	ENST00000377325.1	+	4	1273	c.717A>G	c.(715-717)aaA>aaG	p.K239K	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	239					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATGGGAAAAAGAATCAGGGG	0.433																																						uc021yro.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(715-717)aaA>aaG		Homo sapiens zinc finger protein 165 (ZNF165), mRNA.							92.0	103.0	99.0					6																	28056507		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056507A>G	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.717A>G	6.37:g.28056507A>G						ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank	p.K239K	NM_003447	NP_003438	P49910	ZN165_HUMAN			3	1544	+			239						Silent	SNP	ENST00000377325.1	37	c.717A>G	CCDS4643.1																																																																																				0.433	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	
SLC26A8	116369	broad.mit.edu	37	6	35922972	35922972	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:35922972A>T	ENST00000490799.1	-	17	2542	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.M730K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.M625K	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAGTGTACCATGGAGAAATC	0.547																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2188-2190)aTg>aAg		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							121.0	111.0	115.0					6																	35922972		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35922972A>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2189T>A	6.37:g.35922972A>T	ENSP00000417638:p.Met730Lys					SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K	p.M730K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			16	2300	-			730			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2189T>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442849	0.63067	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.93307	-3.2;-3.2;-3.2	4.8	4.8	0.61643	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.071279	0.64402	D	0.000013	D	0.93413	0.7899	L	0.57536	1.79	0.45342	D	0.998332	D;D;D	0.76494	0.998;0.971;0.999	D;P;D	0.64776	0.924;0.61;0.929	D	0.92671	0.6150	10	0.39692	T	0.17	.	10.9168	0.47142	1.0:0.0:0.0:0.0	.	730;625;312	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	K	730;625;730	ENSP00000417638:M730K;ENSP00000378100:M625K;ENSP00000347778:M730K	ENSP00000347778:M730K	M	-	2	0	SLC26A8	36030950	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.894000	0.63206	2.150000	0.67090	0.533000	0.62120	ATG		0.547	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
EPM2A	7957	broad.mit.edu	37	6	145948736	145948736	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:145948736C>T	ENST00000367519.3	-	4	1337	c.812G>A	c.(811-813)gGc>gAc	p.G271D		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	271	Tyrosine-protein phosphatase.				autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GGTGGAGCGGCCCACCCCAGC	0.632																																						uc003qkw.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(811-813)gGc>gAc		Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.							51.0	51.0	51.0					6																	145948736		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145948736C>T	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.812G>A	6.37:g.145948736C>T	ENSP00000356489:p.Gly271Asp					EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D	p.G271D	NM_005670	NP_005661	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	3	1169	-		Ovarian(120;0.162)	271			Tyrosine-protein phosphatase.		B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.812G>A	CCDS5206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.498270|5.498270	0.96355|0.96355	.|.	.|.	ENSG00000112425|ENSG00000112425	ENST00000435470|ENST00000367519;ENST00000392304;ENST00000324857	.|D	.|0.85861	.|-2.04	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90625|0.90625	0.7060|0.7060	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.995;0.997	D|D	0.89934|0.89934	0.4068|0.4068	5|10	.|0.54805	.|T	.|0.06	-25.5588|-25.5588	19.8761|19.8761	0.96870|0.96870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|271;271;133	.|O95278;O95278-2;E1P599	.|EPM2A_HUMAN;.;.	T|D	191|271	.|ENSP00000356489:G271D	.|ENSP00000320279:G271D	A|G	-|-	1|2	0|0	EPM2A|EPM2A	145990429|145990429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.487000|7.487000	0.81328|0.81328	2.704000|2.704000	0.92352|0.92352	0.557000|0.557000	0.71058|0.71058	GCC|GGC		0.632	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1		
SUGCT	79783	broad.mit.edu	37	7	40899925	40899925	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899925G>C	ENST00000335693.4	+	14	1208	c.1185G>C	c.(1183-1185)gtG>gtC	p.V395V	C7orf10_ENST00000309930.5_Silent_p.V421V|C7orf10_ENST00000401647.2_Silent_p.V347V|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		395					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GCCCAGCTGTGAGATACAGTA	0.527																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1261-1263)gtG>gtC		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							86.0	95.0	92.0					7																	40899925		2051	4197	6248	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899925G>C																												ENST00000335693.4:c.1185G>C	7.37:g.40899925G>C						C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript	p.V421V	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			14	1287	+			395					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1263G>C	CCDS55105.1																																																																																				0.527	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
SUGCT	79783	broad.mit.edu	37	7	40899950	40899950	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899950G>C	ENST00000335693.4	+	14	1233	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	C7orf10_ENST00000309930.5_Missense_Mutation_p.E430Q|C7orf10_ENST00000401647.2_Missense_Mutation_p.E356Q|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		404					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGATGTCAGAGGCCAGGCC	0.552																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1288-1290)Gag>Cag		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							99.0	109.0	106.0					7																	40899950		2084	4222	6306	SO:0001583	missense	79783						transferase activity	g.chr7:40899950G>C																												ENST00000335693.4:c.1210G>C	7.37:g.40899950G>C	ENSP00000338475:p.Glu404Gln					C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript	p.E430Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			14	1312	+			404					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1288G>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808538	0.50421	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.85629	-2.01;-0.01;-0.01	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.834843	0.10715	N	0.642366	T	0.81973	0.4936	L	0.48642	1.525	0.80722	D	1	B;B;P	0.38677	0.294;0.163;0.642	B;B;B	0.40134	0.102;0.131;0.32	T	0.77720	-0.2482	10	0.42905	T	0.14	-12.1652	9.2359	0.37466	0.0781:0.1475:0.7744:0.0	.	356;404;393	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	Q	430;356;404	ENSP00000312054:E430Q;ENSP00000385222:E356Q;ENSP00000338475:E404Q	ENSP00000312054:E430Q	E	+	1	0	C7orf10	40866475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.346000	0.44027	2.575000	0.86900	0.655000	0.94253	GAG		0.552	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
STEAP4	79689	broad.mit.edu	37	7	87912074	87912074	+	Missense_Mutation	SNP	C	C	A	rs79363691		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:87912074C>A	ENST00000380079.4	-	3	967	c.866G>T	c.(865-867)tGc>tTc	p.C289F	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.C289F	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	289	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGCTTTCGGCAAAGCATCCA	0.478																																						uc022agz.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(865-867)tGc>tTc		Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.							76.0	75.0	76.0					7																	87912074		1987	4159	6146	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912074C>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.866G>T	7.37:g.87912074C>A	ENSP00000369419:p.Cys289Phe					STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron	p.C289F	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN			3	1089	-	Esophageal squamous(14;0.00802)		289			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.866G>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665488	0.88251	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.89552	-2.53;-2.53	6.08	6.08	0.98989	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94848	0.8011	10	0.62326	D	0.03	-8.8593	20.6721	0.99693	0.0:1.0:0.0:0.0	.	289;289	C9JS50;Q687X5	.;STEA4_HUMAN	F	289	ENSP00000369419:C289F;ENSP00000394399:C289F	ENSP00000369419:C289F	C	-	2	0	STEAP4	87750010	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.089000	0.71384	2.894000	0.99253	0.591000	0.81541	TGC		0.478	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636	
EZH2	2146	broad.mit.edu	37	7	148506237	148506237	+	Silent	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:148506237A>T	ENST00000460911.1	-	19	2194	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	EZH2_ENST00000476773.1_Silent_p.V651V|EZH2_ENST00000320356.2_Silent_p.V707V|EZH2_ENST00000541220.1_Silent_p.V651V|EZH2_ENST00000350995.2_Silent_p.V663V|EZH2_ENST00000483967.1_Silent_p.V693V|EZH2_ENST00000478654.1_Silent_p.V651V			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	702	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATCACCGTTAACCATCATAA	0.443			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(2104-2106)gtT>gtA		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.							125.0	113.0	117.0					7																	148506237		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148506237A>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2106T>A	7.37:g.148506237A>T						EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V	p.V702V	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		18	2299	-	Melanoma(164;0.15)		702			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.2106T>A	CCDS56516.1																																																																																				0.443	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
ZFHX4	79776	broad.mit.edu	37	8	77766549	77766549	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr8:77766549G>A	ENST00000521891.2	+	10	7840	c.7392G>A	c.(7390-7392)tcG>tcA	p.S2464S	ZFHX4_ENST00000050961.6_Silent_p.S2419S|ZFHX4_ENST00000455469.2_Silent_p.S2419S|ZFHX4_ENST00000518282.1_Silent_p.S2438S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2448S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCTCCCTCGGCCTCTCAAA	0.537										HNSCC(33;0.089)																												uc003yau.2																			2	Substitution - coding silent(2)	p.S2448S(2)	ovary(1)|endometrium(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7390-7392)tcG>tcA		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							100.0	148.0	132.0					8																	77766549		2084	4217	6301	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766549G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7392G>A	8.37:g.77766549G>A		HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Silent_p.S2419S	p.S2464S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	7779	+			2419					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7392G>A	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
IARS	3376	broad.mit.edu	37	9	95050515	95050515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:95050515C>T	ENST00000375643.3	-	3	435	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.G57R|IARS_ENST00000447699.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	57					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTATATGTCCATAGTGAGGC	0.368																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(169-171)Gga>Aga		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						97.0	91.0	93.0					9																	95050515		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050515C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.169G>A	9.37:g.95050515C>T	ENSP00000364794:p.Gly57Arg					IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	p.G57R	NM_013417	NP_038203	P41252	SYIC_HUMAN			2	426	-			57					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.169G>A	CCDS6694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.005866|5.005866	0.93287|0.93287	.|.	.|.	ENSG00000196305|ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554|ENST00000543028;ENST00000421189	D;D;D|.	0.85629|.	-2.01;-2.01;-2.01|.	6.03|6.03	5.11|5.11	0.69529|0.69529	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92054|0.92054	0.7482|0.7482	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95304|0.95304	0.8406|0.8406	10|6	0.87932|0.49607	D|T	0|0.09	-24.8254|-24.8254	16.2326|16.2326	0.82356|0.82356	0.1339:0.866:0.0:0.0|0.1339:0.866:0.0:0.0	.|.	57|.	P41252|.	SYIC_HUMAN|.	R|I	57|13	ENSP00000364794:G57R;ENSP00000406448:G57R;ENSP00000378922:G57R|.	ENSP00000364794:G57R|ENSP00000406483:M13I	G|M	-|-	1|3	0|0	IARS|IARS	94090336|94090336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.765000|7.765000	0.85310|0.85310	1.514000|1.514000	0.48869|0.48869	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
DNM1	1759	broad.mit.edu	37	9	130965824	130965824	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:130965824G>A	ENST00000372923.3	+	1	167	c.75G>A	c.(73-75)caG>caA	p.Q25Q	DNM1_ENST00000341179.7_Silent_p.Q25Q|CIZ1_ENST00000393608.1_Intron|DNM1_ENST00000486160.1_Silent_p.Q25Q|CIZ1_ENST00000372948.3_Intron|DNM1_ENST00000393594.3_Silent_p.Q25Q|DNM1_ENST00000475805.1_Silent_p.Q25Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	25					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCATCGGCCAGAACGCGGACC	0.692																																					GBM(113;146 1575 2722 28670 29921)	uc022bob.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(73-75)caG>caA		Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.							16.0	15.0	15.0					9																	130965824		2161	4240	6401	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130965824G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.75G>A	9.37:g.130965824G>A						CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q	p.Q25Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN			0	162	+			25					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.75G>A	CCDS6895.1																																																																																				0.692	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
CDKL5	6792	broad.mit.edu	37	X	18622176	18622176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:18622176C>G	ENST00000379989.3	+	13	1417	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P378A	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	378					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TAGTCTTAGTCCACTGCACAC	0.522																																						uc004cym.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1132-1134)Cca>Gca		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							160.0	153.0	155.0					X																	18622176		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622176C>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1132C>G	X.37:g.18622176C>G	ENSP00000369325:p.Pro378Ala					CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A	p.P378A	NM_003159	NP_003150	O76039	CDKL5_HUMAN			11	1385	+	Hepatocellular(33;0.183)		378					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1132C>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179496	0.57800	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71341	-0.56;-0.56	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	L	0.36672	1.1	0.46849	D	0.999229	D	0.76494	0.999	D	0.80764	0.994	T	0.80828	-0.1208	10	0.72032	D	0.01	-17.0817	19.5011	0.95095	0.0:1.0:0.0:0.0	.	378	O76039	CDKL5_HUMAN	A	378	ENSP00000369332:P378A;ENSP00000369325:P378A	ENSP00000369325:P378A	P	+	1	0	CDKL5	18532097	1.000000	0.71417	0.990000	0.47175	0.414000	0.31173	7.484000	0.81180	2.560000	0.86352	0.600000	0.82982	CCA		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
PHEX	5251	broad.mit.edu	37	X	22051086	22051086	+	5'UTR	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:22051086A>T	ENST00000379374.4	+	0	528				PHEX_ENST00000537599.1_5'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AACCACGAAAAGTGACTTTCT	0.502																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42								Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							122.0	99.0	107.0					X																	22051086		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22051086A>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.-38A>T	X.37:g.22051086A>T						PHEX_uc011mjr.2_5'UTR		NM_000444	NP_000435	P78562	PHEX_HUMAN			0		+								O00678|Q13646|Q2M325|Q93032|Q99827	Translation_Start_Site	SNP	ENST00000379374.4	37		CCDS14204.1																																																																																				0.502	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
DCAF8L1	139425	broad.mit.edu	37	X	27998447	27998447	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:27998447G>C	ENST00000441525.1	-	1	1119	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	335								p.V335V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418																																						uc004dbx.1																			1	Substitution - coding silent(1)	p.V335V(2)	lung(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1003-1005)gtC>gtG		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							99.0	84.0	89.0					X																	27998447		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998447G>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1005C>G	X.37:g.27998447G>C							p.V335V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	1120	-			335					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1005C>G	CCDS35222.1																																																																																				0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
CXorf22	170063	broad.mit.edu	37	X	35966473	35966473	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:35966473T>A	ENST00000297866.5	+	4	626	c.560T>A	c.(559-561)aTt>aAt	p.I187N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	187										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCATCCTCATTTTTCCAACT	0.403																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(559-561)aTt>aAt		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							205.0	162.0	177.0					X																	35966473		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35966473T>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.560T>A	X.37:g.35966473T>A	ENSP00000297866:p.Ile187Asn					CXorf22_uc010ngv.3_Non-coding_Transcript	p.I187N	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			3	626	+			187					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.560T>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784868	0.49997	.	.	ENSG00000165164	ENST00000297866	T	0.51817	0.69	4.8	3.62	0.41486	.	0.224065	0.44285	D	0.000478	T	0.62085	0.2399	M	0.72894	2.215	0.09310	N	1	D	0.69078	0.997	D	0.64776	0.929	T	0.55211	-0.8176	10	0.87932	D	0	.	9.1902	0.37195	0.0:0.0879:0.0:0.9121	.	187	Q6ZTR5	CX022_HUMAN	N	187	ENSP00000297866:I187N	ENSP00000297866:I187N	I	+	2	0	CXorf22	35876394	0.658000	0.27402	0.001000	0.08648	0.135000	0.20990	3.537000	0.53590	0.605000	0.29947	0.433000	0.28618	ATT		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
OTC	5009	broad.mit.edu	37	X	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	rs68026851		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:38260563G>C	ENST00000039007.4	+	5	574	c.422G>C	c.(421-423)cGa>cCa	p.R141P	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation). {ECO:0000269|PubMed:3170748, ECO:0000269|PubMed:8830175}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378																																						uc004def.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	GRCh37	CM880056|CM971101	OTC	M	rs68026851	c.(421-423)cGa>cCa		Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	L-Citrulline(DB00155)|L-Ornithine(DB00129)						88.0	69.0	75.0					X																	38260563		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260563G>C	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.422G>C	X.37:g.38260563G>C	ENSP00000039007:p.Arg141Pro						p.R141P	NM_000531	NP_000522	P00480	OTC_HUMAN			4	636	+			141		R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.422G>C	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329946	0.81690	.	.	ENSG00000036473	ENST00000039007	D	0.99961	-9.33	5.97	5.11	0.69529	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97338	0.9955	10	0.87932	D	0	-3.6673	14.2282	0.65873	0.0729:0.0:0.9271:0.0	.	141	P00480	OTC_HUMAN	P	141	ENSP00000039007:R141P	ENSP00000039007:R141P	R	+	2	0	OTC	38145507	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.417000	0.97391	1.278000	0.44430	0.600000	0.82982	CGA		0.378	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
MAOB	4129	broad.mit.edu	37	X	43626865	43626865	+	Splice_Site	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:43626865C>G	ENST00000378069.4	-	15	1558	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Splice_Site_p.D455H	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	471					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GCAGGGACATCCTAGGTTCAG	0.493																																						uc004dfz.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.e15-1		Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						90.0	74.0	80.0					X																	43626865		2203	4300	6503	SO:0001630	splice_region_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43626865C>G		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1411-1G>C	X.37:g.43626865C>G						MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice	p.D471_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN			15	1587	-			471					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.1411_splice	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037867	0.54896	.	.	ENSG00000069535	ENST00000378069;ENST00000536181	T;T	0.19938	2.11;2.12	5.67	5.67	0.87782	.	0.095719	0.64402	D	0.000001	T	0.48960	0.1529	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	P	0.61592	0.891	T	0.51616	-0.8683	10	0.42905	T	0.14	-20.5759	17.4187	0.87508	0.0:1.0:0.0:0.0	.	471	P27338	AOFB_HUMAN	H	471;455	ENSP00000367309:D471H;ENSP00000441613:D455H	ENSP00000367309:D471H	D	-	1	0	MAOB	43511809	1.000000	0.71417	0.965000	0.40720	0.050000	0.14768	6.803000	0.75180	2.383000	0.81215	0.600000	0.82982	GAT		0.493	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	Missense_Mutation
ATRX	546	broad.mit.edu	37	X	76938530	76938530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:76938530C>A	ENST00000373344.5	-	9	2432	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E702*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	740			E -> G (in dbSNP:rs1051680). {ECO:0000269|PubMed:9244431}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGCTCACCTCTTTGAGGATT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2218-2220)Gag>Tag		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						140.0	137.0	138.0					X																	76938530		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938530C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2218G>T	X.37:g.76938530C>A	ENSP00000362441:p.Glu740*					ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685*	p.E740*	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	2450	-			740		E -> G (in dbSNP:rs1051680).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2218G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.657912	0.98415	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.95	5.07	0.68467	.	0.061571	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.067	9.6051	0.39628	0.0:0.7859:0.1391:0.0751	.	.	.	.	X	740;702;667	.	ENSP00000362441:E740X	E	-	1	0	ATRX	76825186	1.000000	0.71417	0.977000	0.42913	0.711000	0.40976	1.189000	0.32114	1.226000	0.43582	0.513000	0.50165	GAG		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
RPL36A	6173	broad.mit.edu	37	X	100646547	100646547	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:100646547C>T	ENST00000553110.3	+	2	188	c.104C>T	c.(103-105)gCc>gTc	p.A35V	RPL36A_ENST00000471855.1_5'UTR|RPL36A_ENST00000427805.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_ENST00000409170.3_Missense_Mutation_p.P46S			P83881	RL36A_HUMAN	ribosomal protein L36a	35					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)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						TCTCTGTACGCCCAGGGTAAG	0.483																																						uc022cag.1																			0											c.(211-213)gCc>gTc		Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.							132.0	130.0	131.0					X																	100646547		2203	4300	6503	SO:0001583	missense	6173							g.chrX:100646547C>T	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"""L ribosomal proteins"""	10359	protein-coding gene	gene with protein product		300902	"""ribosomal protein L44"""	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.104C>T	X.37:g.100646547C>T	ENSP00000446503:p.Ala35Val					RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.A71V|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.A35V	p.A71V	NM_001199973	NP_001186902					1	258	+								P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	ENST00000553110.3	37	c.212C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.61|19.61	3.859950|3.859950	0.71834|0.71834	.|.	.|.	ENSG00000241343;ENSG00000241343;ENSG00000257529|ENSG00000257529	ENST00000427805;ENST00000553110;ENST00000409338|ENST00000409170	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Ribosomal protein, zinc-binding domain (1);|.	0.000000|.	0.64402|.	U|.	0.000013|.	T|T	0.75939|0.75939	0.3918|0.3918	M|M	0.72576|0.72576	2.205|2.205	0.50813|0.50813	D|D	0.999892|0.999892	B;B|.	0.24963|.	0.038;0.115|.	B;B|.	0.20767|.	0.014;0.031|.	T|T	0.75255|0.75255	-0.3382|-0.3382	10|5	0.66056|.	D|.	0.02|.	-25.4076|-25.4076	18.6337|18.6337	0.91370|0.91370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	35;35|.	P83881;B2REA7|.	RL36A_HUMAN;.|.	V|S	71;35;46|46	ENSP00000404375:A71V;ENSP00000446503:A35V;ENSP00000386974:A46V|.	ENSP00000386974:A46V|.	A|P	+|+	2|1	0|0	RPL36A;RP1-164F3.9|RP1-164F3.9	100533203|100533203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.373000|0.373000	0.29922|0.29922	5.738000|5.738000	0.68613|0.68613	2.344000|2.344000	0.79699|0.79699	0.468000|0.468000	0.43344|0.43344	GCC|CCC		0.483	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029	
