#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KDF1	126695	broad.mit.edu	37	1	27278146	27278146	+	Silent	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:27278146G>T	ENST00000320567.5	-	2	814	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		242					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGAAGATGAGCACATCAA	0.532																																						uc001bni.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(724-726)ctC>ctA		Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.							46.0	43.0	44.0					1																	27278146		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278146G>T																												ENST00000320567.5:c.726C>A	1.37:g.27278146G>T			Somatic				BC016143_uc021ojq.1_Intron	p.L242L	NM_152365	NP_689578	WXS	Illumina GAIIx	Phase_I	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	819	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	242					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.726C>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481670	0.12581	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.77	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.1392	0.03770	0.1842:0.284:0.4051:0.1266	.	.	.	.	X	203	.	ENSP00000363223:S203X	S	-	2	0	C1orf172	27150733	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.308000	0.19314	0.218000	0.20820	0.555000	0.69702	TCA		0.532	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			9	35	0	0	0	1	0	9	35				
TBX18	9096	broad.mit.edu	37	6	85472299	85472299	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:85472299C>T	ENST00000369663.5	-	2	797	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	154					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCCTATCTCATGAAAGCGC	0.672																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(460-462)Gag>Aag		Homo sapiens T-box 18 (TBX18), mRNA.							94.0	98.0	96.0					6																	85472299		2203	4299	6502	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472299C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.460G>A	6.37:g.85472299C>T	ENSP00000358677:p.Glu154Lys		Somatic				TBX18_uc010kbq.2_5'UTR	p.E154K	NM_001080508	NP_001073977	WXS	Illumina GAIIx	Phase_I	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	1	460	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	154					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.460G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	37	6.132278	0.97310	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.80393	-1.37	5.74	5.74	0.90152	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.048279	0.85682	D	0.000000	T	0.80623	0.4658	L	0.42529	1.33	0.80722	D	1	D	0.60160	0.987	P	0.59056	0.851	T	0.75342	-0.3351	10	0.22109	T	0.4	.	19.9226	0.97093	0.0:1.0:0.0:0.0	.	154	O95935	TBX18_HUMAN	K	69;154	ENSP00000358677:E154K	ENSP00000358677:E154K	E	-	1	0	TBX18	85529018	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.843000	0.69424	2.720000	0.93068	0.561000	0.74099	GAG		0.672	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		25	97	0	0	0	1	0	25	97				
TCF7L1	83439	broad.mit.edu	37	2	85532449	85532449	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:85532449G>A	ENST00000282111.3	+	8	1187	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	304	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACCTCAGGGATCCCCCACC	0.627																																						uc002soy.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(910-912)ggG>ggA		Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.							79.0	77.0	78.0					2																	85532449		2203	4300	6503	SO:0001819	synonymous_variant	83439				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532449G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.912G>A	2.37:g.85532449G>A			Somatic					p.G304G	NM_031283	NP_112573	WXS	Illumina GAIIx	Phase_I	Q9HCS4	TF7L1_HUMAN			7	1137	+			304			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.912G>A	CCDS1971.1																																																																																				0.627	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	55	0	0	0	1	0	22	55				
NRP1	8829	broad.mit.edu	37	10	33510667	33510667	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:33510667A>G	ENST00000265371.4	-	9	1787	c.1262T>C	c.(1261-1263)gTa>gCa	p.V421A	NRP1_ENST00000395995.1_Missense_Mutation_p.V421A|NRP1_ENST00000374875.1_Missense_Mutation_p.V240A|NRP1_ENST00000374822.4_Missense_Mutation_p.V421A|NRP1_ENST00000374867.2_Missense_Mutation_p.V421A|NRP1_ENST00000374816.3_Missense_Mutation_p.V421A|NRP1_ENST00000374821.5_Missense_Mutation_p.V421A|NRP1_ENST00000374823.5_Missense_Mutation_p.V421A|NRP1_ENST00000432372.2_Missense_Mutation_p.V421A			O14786	NRP1_HUMAN	neuropilin 1	421	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAACCGTATACTTCAAATCT	0.393																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1261-1263)gTa>gCa		Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	Palifermin(DB00039)|Pegaptanib(DB04895)						155.0	149.0	151.0					10																	33510667		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33510667A>G	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1262T>C	10.37:g.33510667A>G	ENSP00000265371:p.Val421Ala		Somatic				NRP1_uc001iwv.4_Missense_Mutation_p.V421A|NRP1_uc001iwy.4_Missense_Mutation_p.V421A|NRP1_uc009xlz.3_Missense_Mutation_p.V421A|NRP1_uc001iww.4_Missense_Mutation_p.V240A|NRP1_uc001iwz.2_Missense_Mutation_p.V421A|NRP1_uc001ixa.2_Missense_Mutation_p.V421A|NRP1_uc001ixb.2_Missense_Mutation_p.V421A|NRP1_uc001ixc.1_Missense_Mutation_p.V421A	p.V421A	NM_003873	NP_003864	WXS	Illumina GAIIx	Phase_I	O14786	NRP1_HUMAN			7	1785	-			421			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1262T>C	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572593	0.86542	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.87	5.87	0.94306	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.103731	0.64402	D	0.000003	D	0.98601	0.9532	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.46457	0.794;0.771;0.878;0.878;0.759;0.679;0.794;0.46;0.641	P;P;P;P;B;B;P;P;B	0.58077	0.764;0.781;0.832;0.827;0.315;0.35;0.764;0.453;0.382	D	0.99712	1.1007	10	0.87932	D	0	-24.9418	16.5764	0.84681	1.0:0.0:0.0:0.0	.	421;421;421;421;421;421;421;240;421	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	A	421;240;421;421;421;421;421;421;94	ENSP00000265371:V421A;ENSP00000364009:V240A;ENSP00000364001:V421A;ENSP00000379317:V421A;ENSP00000363955:V421A;ENSP00000363954:V421A;ENSP00000363956:V421A;ENSP00000363949:V421A;ENSP00000408911:V94A	ENSP00000265371:V421A	V	-	2	0	NRP1	33550673	1.000000	0.71417	0.928000	0.36995	0.941000	0.58515	8.902000	0.92568	2.371000	0.80710	0.533000	0.62120	GTA		0.393	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			38	72	0	0	0	1	0	38	72				
TAS1R1	80835	broad.mit.edu	37	1	6635194	6635194	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:6635194G>A	ENST00000333172.6	+	3	1195	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TAS1R1_ENST00000328191.4_Silent_p.L334L|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	334					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGGCCTGAAGGCGTTTG	0.632																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1000-1002)ctG>ctA		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							36.0	39.0	38.0					1																	6635194		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635194G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1002G>A	1.37:g.6635194G>A			Somatic				TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.L256L	p.L334L	NM_138697	NP_619642	WXS	Illumina GAIIx	Phase_I	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	1098	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	334					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1002G>A	CCDS81.1																																																																																				0.632	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			12	26	0	0	0	1	0	12	26				
MUC17	140453	broad.mit.edu	37	7	100695160	100695160	+	Silent	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:100695160C>A	ENST00000306151.4	+	9	13084	c.13020C>A	c.(13018-13020)atC>atA	p.I4340I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4340					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATACTGCATCAGCCCCTGTG	0.577																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13018-13020)atC>atA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							183.0	162.0	169.0					7																	100695160		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695160C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13020C>A	7.37:g.100695160C>A			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.I4340I	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			8	13073	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4340					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13020C>A	CCDS34711.1																																																																																				0.577	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	109	0	0	0	1	0	26	109				
TMEM47	83604	broad.mit.edu	37	X	34648444	34648444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:34648444C>A	ENST00000275954.3	-	3	790	c.532G>T	c.(532-534)Gaa>Taa	p.E178*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	178						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGTAGTCTTCATAGTTCTTA	0.398																																						uc004ddh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(532-534)Gaa>Taa		Homo sapiens transmembrane protein 47 (TMEM47), mRNA.							158.0	140.0	146.0					X																	34648444		2202	4300	6502	SO:0001587	stop_gained	83604					integral to membrane		g.chrX:34648444C>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.532G>T	X.37:g.34648444C>A	ENSP00000275954:p.Glu178*		Somatic				TMEM47_uc010ngs.3_Non-coding_Transcript	p.E178*	NM_031442	NP_113630	WXS	Illumina GAIIx	Phase_I	Q9BQJ4	TMM47_HUMAN			2	791	-			178					Q5JR44	Nonsense_Mutation	SNP	ENST00000275954.3	37	c.532G>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	C	36	5.861323	0.97036	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.45139	D	0.998157	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.7713	17.0295	0.86457	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000275954:E178X	E	-	1	0	TMEM47	34558365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.438000	0.80431	2.231000	0.72958	0.415000	0.27848	GAA		0.398	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		19	48	0	0	0	1	0	19	48				
KMT2C	58508	broad.mit.edu	37	7	151856077	151856077	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:151856077C>G	ENST00000262189.6	-	44	11759	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K3847N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3847					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCGCTGTTTCTTGGTTTCAC	0.458																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(11539-11541)aaG>aaC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							234.0	208.0	217.0					7																	151856077		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151856077C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11541G>C	7.37:g.151856077C>G	ENSP00000262189:p.Lys3847Asn		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.K2908N|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.K1356N	p.K3847N	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	11760	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3847					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11541G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.07|17.07	3.294222|3.294222	0.60086|0.60086	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.90900	.|-1.98;-1.98;-2.75	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.45606	.|U	.|0.000341	D|D	0.94251|0.94251	0.8154|0.8154	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.80764	.|0.994;0.964;0.975	D|D	0.93034|0.93034	0.6451|0.6451	5|10	.|0.38643	.|T	.|0.18	.|.	14.1122|14.1122	0.65129|0.65129	0.0:0.9279:0.0:0.072|0.0:0.9279:0.0:0.072	.|.	.|3847;2908;3847	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	Q|N	1353|3847;3847;433	.|ENSP00000262189:K3847N;ENSP00000347325:K3847N;ENSP00000410411:K433N	.|ENSP00000262189:K3847N	E|K	-|-	1|3	0|2	MLL3|MLL3	151487010|151487010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.908000|3.908000	0.56355|0.56355	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	98	0	0	0	1	0	27	98				
DST	667	broad.mit.edu	37	6	56438569	56438569	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56438569C>G	ENST00000361203.3	-	47	12518	c.12511G>C	c.(12511-12513)Gac>Cac	p.D4171H	DST_ENST00000244364.6_Missense_Mutation_p.D1759H|DST_ENST00000370788.2_Missense_Mutation_p.D2085H|DST_ENST00000370769.4_Missense_Mutation_p.D4173H|DST_ENST00000370754.5_Missense_Mutation_p.D4351H|DST_ENST00000446842.2_Missense_Mutation_p.D3847H|DST_ENST00000312431.6_Missense_Mutation_p.D4171H|DST_ENST00000421834.2_Missense_Mutation_p.D2085H			Q03001	DYST_HUMAN	dystonin	4171					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCATCCAGTCCAGCATTTCA	0.403																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5275-5277)Gac>Cac		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							142.0	144.0	143.0					6																	56438569		1954	4146	6100	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56438569C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12511G>C	6.37:g.56438569C>G	ENSP00000354508:p.Asp4171His		Somatic				DST_uc010kaa.1_Non-coding_Transcript	p.D1759H	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	5383	-	Lung NSC(77;0.103)		4171					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5275G>C		.	.	.	.	.	.	.	.	.	.	C	15.64	2.892663	0.52121	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.83163	1.28;1.28;1.28;1.28;1.28;-1.69;1.28;1.28	5.95	2.97	0.34412	.	0.352724	0.23652	N	0.045905	T	0.79341	0.4429	L	0.46157	1.445	0.28698	N	0.904231	P;P;P;B;B	0.49961	0.836;0.859;0.93;0.257;0.011	B;P;P;B;B	0.62014	0.347;0.687;0.897;0.143;0.014	T	0.77563	-0.2541	9	0.44086	T	0.13	.	9.0829	0.36563	0.0:0.7403:0.1196:0.1401	.	2085;4173;4351;4171;1759	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	1759;4351;4173;2085;3847;4171;2085;4171	ENSP00000244364:D1759H;ENSP00000359790:D4351H;ENSP00000359805:D4173H;ENSP00000400883:D2085H;ENSP00000393645:D3847H;ENSP00000307959:D4171H;ENSP00000359824:D2085H;ENSP00000354508:D4171H	ENSP00000244364:D1759H	D	-	1	0	DST	56546528	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.884000	0.39668	0.318000	0.23185	0.650000	0.86243	GAC		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	52	0	0	0	1	0	16	52				
PGAP2	27315	broad.mit.edu	37	11	3845543	3845543	+	Silent	SNP	C	C	G	rs559872012		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:3845543C>G	ENST00000463452.2	+	4	545	c.462C>G	c.(460-462)ctC>ctG	p.L154L	PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000278243.4_Silent_p.L215L|PGAP2_ENST00000396986.2_Silent_p.L211L|PGAP2_ENST00000300730.6_Silent_p.L211L|PGAP2_ENST00000465307.2_Missense_Mutation_p.R158G|PGAP2_ENST00000396993.4_Missense_Mutation_p.R108G|PGAP2_ENST00000493547.2_Silent_p.L154L|PGAP2_ENST00000396991.2_Silent_p.L215L|PGAP2_ENST00000532017.1_3'UTR	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	154					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCTCATCCCTCGGGCACATGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19404	0.001		0.0	False		,,,				2504	0.0					uc010qyb.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(472-474)Cgg>Ggg		Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.							210.0	163.0	179.0					11																	3845543		2201	4298	6499	SO:0001819	synonymous_variant	27315				GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity	g.chr11:3845543C>G	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.462C>G	11.37:g.3845543C>G			Somatic				PGAP2_uc001lyl.3_Silent_p.L172L|PGAP2_uc010qxy.2_Silent_p.L211L|PGAP2_uc010qxw.2_Silent_p.L272L|PGAP2_uc001lyn.4_Missense_Mutation_p.R108G|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc001lys.3_Silent_p.L215L|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Silent_p.L154L	p.R158G	NM_014489	NP_055304	WXS	Illumina GAIIx	Phase_I	Q9UHJ9	PGAP2_HUMAN			5	610	+			0					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.472C>G	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.305505|1.305505	0.23736|0.23736	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000459679;ENST00000464906;ENST00000464441	.|.	.|.	.|.	6.07|6.07	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.63402|0.63402	0.2508|0.2508	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.62497|0.62497	-0.6842|-0.6842	7|4	0.87932|.	D|.	0|.	-36.2598|-36.2598	12.4597|12.4597	0.55725|0.55725	0.0:0.5972:0.4028:0.0|0.0:0.5972:0.4028:0.0	.|.	158;108|.	B7Z2X5;A8MZF5|.	.;.|.	G|W	108;173;158|185;245;26	.|.	ENSP00000380190:R108G|.	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3802119|3802119	0.983000|0.983000	0.35010|0.35010	0.905000|0.905000	0.35620|0.35620	0.832000|0.832000	0.47134|0.47134	1.980000|1.980000	0.40618|0.40618	1.565000|1.565000	0.49641|0.49641	-0.181000|-0.181000	0.13052|0.13052	CGG|TCG		0.562	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			24	64	0	0	0	1	0	24	64				
TRIM24	8805	broad.mit.edu	37	7	138258373	138258373	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:138258373C>T	ENST00000343526.4	+	12	2215	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S633F			O15164	TIF1A_HUMAN	tripartite motif containing 24	667					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCAGTGCCATCTCCAGGCCTT	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.3																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1999-2001)tCt>tTt		Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.							116.0	109.0	112.0					7																	138258373		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138258373C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2000C>T	7.37:g.138258373C>T	ENSP00000340507:p.Ser667Phe		Somatic				TRIM24_uc003vub.3_Missense_Mutation_p.S633F	p.S667F	NM_015905	NP_056989	WXS	Illumina GAIIx	Phase_I	O15164	TIF1A_HUMAN			11	2215	+			667					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2000C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455246	0.84209	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.81330	-1.37;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.85130	0.982;0.997	D	0.85455	0.1163	10	0.51188	T	0.08	-18.3868	19.0964	0.93253	0.0:1.0:0.0:0.0	.	667;633	O15164;O15164-2	TIF1A_HUMAN;.	F	667;578;633	ENSP00000340507:S667F;ENSP00000390829:S633F	ENSP00000340507:S667F	S	+	2	0	TRIM24	137908913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.063000	0.64332	2.595000	0.87683	0.563000	0.77884	TCT		0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		14	54	0	0	0	1	0	14	54				
TRPM3	80036	broad.mit.edu	37	9	73461349	73461349	+	Silent	SNP	G	G	C	rs551795475		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:73461349G>C	ENST00000377111.2	-	4	864	c.621C>G	c.(619-621)ctC>ctG	p.L207L	TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000377110.3_Silent_p.L207L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000357533.2_Silent_p.L209L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000377105.1_Silent_p.L54L|TRPM3_ENST00000377101.1_Silent_p.L54L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	207					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483																																						uc004aid.3																			0		p.A206S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(619-621)ctC>ctG		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							218.0	212.0	214.0					9																	73461349		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73461349G>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.621C>G	9.37:g.73461349G>C			Somatic				TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L	p.L207L	NM_001007471	NP_066003	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			3	865	-			207					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.621C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.005|9.005	0.980986|0.980986	0.18812|0.18812	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377097	.|.	.|.	.|.	5.86|5.86	1.54|1.54	0.23209|0.23209	.|.	.|.	.|.	.|.	.|.	T|.	0.42810|.	0.1219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24621|.	-1.0155|.	4|.	.|.	.|.	.|.	-24.4484|-24.4484	1.5848|1.5848	0.02641|0.02641	0.2153:0.1145:0.4392:0.2311|0.2153:0.1145:0.4392:0.2311	.|.	.|.	.|.	.|.	D|X	54|97	.|.	.|.	H|S	-|-	1|2	0|0	TRPM3|TRPM3	72651169|72651169	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.010000|-0.010000	0.12743|0.12743	0.315000|0.315000	0.23110|0.23110	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		26	130	0	0	0	1	0	26	130				
ZNF436	80818	broad.mit.edu	37	1	23688762	23688762	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:23688762G>A	ENST00000314011.4	-	4	1249	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF436_ENST00000374608.3_Silent_p.F371F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCCGGCTGAAGCTTTTCC	0.468																																						uc001bgt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)ttC>ttT		Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.							100.0	99.0	99.0					1																	23688762		2203	4300	6503	SO:0001819	synonymous_variant	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688762G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1113C>T	1.37:g.23688762G>A			Somatic				ZNF436_uc001bgu.3_Silent_p.F371F	p.F371F	NM_030634	NP_085137	WXS	Illumina GAIIx	Phase_I	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	2	1494	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	371					Q658I9	Silent	SNP	ENST00000314011.4	37	c.1113C>T	CCDS233.1																																																																																				0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		18	59	0	0	0	1	0	18	59				
AACS	65985	broad.mit.edu	37	12	125612771	125612771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:125612771G>C	ENST00000316519.6	+	13	1580	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	AACS_ENST00000545511.1_Missense_Mutation_p.R38T|AACS_ENST00000261686.6_Missense_Mutation_p.E458D|AACS_ENST00000543665.1_5'Flank|AACS_ENST00000316543.10_Missense_Mutation_p.E56D	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	458					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAAAGGGGAGATTCAGGCCC	0.512																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1372-1374)gaG>gaC		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							68.0	65.0	66.0					12																	125612771		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity	g.chr12:125612771G>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1374G>C	12.37:g.125612771G>C	ENSP00000324842:p.Glu458Asp		Somatic				AACS_uc001uhd.3_Missense_Mutation_p.E458D|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.E56D	p.E458D	NM_023928	NP_076417	WXS	Illumina GAIIx	Phase_I	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	12	1580	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		458					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.1374G>C	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702114|3.702114	0.68501|0.68501	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511	T;T;T;T;T|.	0.41065|.	1.01;1.01;2.84;1.01;2.84|.	4.65|4.65	1.2|1.2	0.21068|0.21068	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80778|0.80778	0.4688|0.4688	H|H	0.95470|0.95470	3.675|3.675	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.81586|0.81586	-0.0865|-0.0865	10|6	0.87932|0.87932	D|D	0|0	.|.	8.9071|8.9071	0.35530|0.35530	0.4303:0.0:0.5697:0.0|0.4303:0.0:0.5697:0.0	.|.	458;458|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	D|T	458;458;56;123;13|38	ENSP00000324842:E458D;ENSP00000261686:E458D;ENSP00000324929:E56D;ENSP00000441686:E123D;ENSP00000441331:E13D|.	ENSP00000261686:E458D|ENSP00000441387:R38T	E|R	+|+	3|2	2|0	AACS|AACS	124178724|124178724	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.947000|0.947000	0.59692|0.59692	2.539000|2.539000	0.45718|0.45718	0.379000|0.379000	0.24794|0.24794	0.313000|0.313000	0.20887|0.20887	GAG|AGA		0.512	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		7	20	0	0	0	1	0	7	20				
TSSK2	23617	broad.mit.edu	37	22	19118936	19118936	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr22:19118936G>A	ENST00000399635.2	+	1	616	c.24G>A	c.(22-24)agG>agA	p.R8R	AC004471.10_ENST00000609936.1_lincRNA|DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	8					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542																																						uc002zow.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(22-24)agG>agA		Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.							68.0	55.0	59.0					22																	19118936		2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118936G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.24G>A	22.37:g.19118936G>A			Somatic				DGCR14_uc002zou.3_3'UTR	p.R8R	NM_053006	NP_443732	WXS	Illumina GAIIx	Phase_I	Q96PF2	TSSK2_HUMAN			0	616	+	Colorectal(54;0.0993)		8					Q8IY55	Silent	SNP	ENST00000399635.2	37	c.24G>A	CCDS13755.1																																																																																				0.542	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			10	34	0	0	0	1	0	10	34				
EXT2	2132	broad.mit.edu	37	11	44135735	44135735	+	Splice_Site	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:44135735G>A	ENST00000343631.3	+	4	756	c.627G>A	c.(625-627)agG>agA	p.R209R	EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000358681.4_Splice_Site_p.R209R|EXT2_ENST00000395673.3_Splice_Site_p.R242R|EXT2_ENST00000533608.1_Splice_Site_p.R209R			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	209					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGCTTTCAGGGCCCTGTTGG	0.443			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mya.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.e4-1		Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.							121.0	112.0	115.0					11																	44135735		2203	4300	6503	SO:0001630	splice_region_variant	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity	g.chr11:44135735G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.627-1G>A	11.37:g.44135735G>A			Somatic				EXT2_uc010rfo.2_Splice_Site_p.R237_splice|EXT2_uc009ykt.3_Splice_Site_p.R209_splice|EXT2_uc001mxz.3_Splice_Site_p.R209_splice	p.R242_splice	NM_000401	NP_000392	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			4	782	+			209					B2R5Z6|C9JU51|J3KPT2|O15288	Splice_Site	SNP	ENST00000343631.3	37	c.726_splice	CCDS7908.1																																																																																				0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	Silent	7	108	0	0	0	1	0	7	108				
HSPB6	126393	broad.mit.edu	37	19	36250713	36250713	+	5'Flank	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:36250713G>C	ENST00000592984.1	-	0	0				HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000544099.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000536950.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000421853.2_Intron|HSPB6_ENST00000004982.3_5'Flank|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q44H			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGTCTCAGAGATCCAGGC	0.577																																						uc021usz.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(130-132)caG>caC		Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.							32.0	35.0	34.0					19																	36250713		1914	4108	6022	SO:0001631	upstream_gene_variant	148137							g.chr19:36250713G>C	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36250713G>C	Exception_encountered		Somatic				HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obo.1_Missense_Mutation_p.Q44H|C19orf55_uc002obp.3_Missense_Mutation_p.Q44H	p.Q44H	NM_001039887	NP_001034976	WXS	Illumina GAIIx	Phase_I	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	205	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		44					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.132G>C	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668305	0.47677	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T	0.34472	1.36	4.1	0.515	0.17013	.	0.596324	0.13000	N	0.421717	T	0.35038	0.0918	L	0.51422	1.61	0.09310	N	1	P;P;P	0.50943	0.94;0.94;0.94	P;P;P	0.51016	0.656;0.53;0.53	T	0.15009	-1.0452	10	0.42905	T	0.14	-2.325	2.7479	0.05272	0.2515:0.0:0.5242:0.2243	.	44;44;44	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	H	44	ENSP00000380116:Q44H	ENSP00000301165:Q44H	Q	+	3	2	C19orf55	40942553	0.000000	0.05858	0.702000	0.30337	0.907000	0.53573	0.373000	0.20484	0.473000	0.27368	0.467000	0.42956	CAG		0.577	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	3	0	0	0	1	0	3	3				
TAS1R3	83756	broad.mit.edu	37	1	1269281	1269281	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:1269281C>T	ENST00000339381.5	+	6	2028	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	666					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		AGAACTGCCTCTGAGCTGGGC	0.677																																						uc010nyk.2																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1996-1998)Ctg>Ttg		Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	Aspartame(DB00168)						27.0	29.0	28.0					1																	1269281		2200	4296	6496	SO:0001819	synonymous_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269281C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1996C>T	1.37:g.1269281C>T			Somatic					p.L666L	NM_152228	NP_689414	WXS	Illumina GAIIx	Phase_I	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1996	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	666					Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.1996C>T	CCDS30556.1																																																																																				0.677	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	36	0	0	0	1	0	9	36				
LIPE	3991	broad.mit.edu	37	19	42912472	42912472	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:42912472G>A	ENST00000244289.4	-	3	1698	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	474					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.F474L(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617																																						uc002otr.3																			1	Substitution - Missense(1)	p.F474L(2)	kidney(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1420-1422)ttC>ttT		Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.							121.0	111.0	115.0					19																	42912472		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912472G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1422C>T	19.37:g.42912472G>A			Somatic				AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.F219F	p.F474F	NM_005357	NP_005348	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			2	1699	-		Prostate(69;0.00682)	474					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1422C>T	CCDS12607.1																																																																																				0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		25	82	0	0	0	1	0	25	82				
DST	667	broad.mit.edu	37	6	56397207	56397207	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56397207C>G	ENST00000361203.3	-	60	16417	c.16410G>C	c.(16408-16410)aaG>aaC	p.K5470N	DST_ENST00000244364.6_Missense_Mutation_p.K3058N|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K3384N|DST_ENST00000370769.4_Missense_Mutation_p.K5472N|DST_ENST00000370754.5_Missense_Mutation_p.K5650N|DST_ENST00000446842.2_Missense_Mutation_p.K5146N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K3384N			Q03001	DYST_HUMAN	dystonin	5470					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCAAAATCTTCACTTTAT	0.398																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9172-9174)aaG>aaC		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							106.0	95.0	99.0					6																	56397207		1855	4096	5951	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56397207C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16410G>C	6.37:g.56397207C>G	ENSP00000354508:p.Lys5470Asn		Somatic					p.K3058N	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		44	9282	-	Lung NSC(77;0.103)		5470					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9174G>C		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426416	0.43020	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.48	2.76	0.32466	.	0.000000	0.52532	D	0.000077	T	0.45377	0.1339	L	0.48642	1.525	0.28083	N	0.932106	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.998;0.999;0.976	T	0.46345	-0.9198	9	0.42905	T	0.14	.	10.4912	0.44752	0.0:0.7126:0.0:0.2874	.	3384;5472;5650;5470;3058	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	3058;5650;5472;3384;5146;3384;5470	ENSP00000244364:K3058N;ENSP00000359790:K5650N;ENSP00000359805:K5472N;ENSP00000400883:K3384N;ENSP00000393645:K5146N;ENSP00000359824:K3384N;ENSP00000354508:K5470N	ENSP00000244364:K3058N	K	-	3	2	DST	56505166	0.993000	0.37304	0.971000	0.41717	0.914000	0.54420	0.425000	0.21346	0.367000	0.24454	-0.300000	0.09419	AAG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	27	0	0	0	1	0	4	27				
ANAPC15	25906	broad.mit.edu	37	11	71822277	71822277	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:71822277G>A	ENST00000227618.4	-	3	271	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	ANAPC15_ENST00000542531.1_Silent_p.L16L|ANAPC15_ENST00000538919.1_Silent_p.L16L|ANAPC15_ENST00000543050.1_Silent_p.L16L|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000535234.1_Silent_p.L16L|ANAPC15_ENST00000545680.1_Silent_p.L16L|ANAPC15_ENST00000535503.1_Silent_p.L16L|ANAPC15_ENST00000545944.1_Silent_p.L16L|ANAPC15_ENST00000538393.1_Silent_p.L16L|ANAPC15_ENST00000543587.1_Silent_p.L16L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	16					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											TTAAACCACAGAGTCTCAGTC	0.512																																						uc001orv.3																			0				endometrium(1)	1						c.(46-48)Ctg>Ttg		Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.							138.0	118.0	125.0					11																	71822277		2200	4293	6493	SO:0001819	synonymous_variant	25906					intracellular		g.chr11:71822277G>A	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.46C>T	11.37:g.71822277G>A			Somatic				C11orf51_uc009ytc.1_Intron|C11orf51_uc001orw.3_Silent_p.L16L	p.L16L	NM_014042	NP_054761	WXS	Illumina GAIIx	Phase_I	P60006	CK051_HUMAN			2	263	-			16					G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	c.46C>T	CCDS8210.1																																																																																				0.512	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		23	82	0	0	0	1	0	23	82				
TAGAP	117289	broad.mit.edu	37	6	159457891	159457891	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:159457891G>C	ENST00000367066.3	-	10	1495	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	TAGAP_ENST00000326965.6_Silent_p.L210L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	388					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCGGCTCTCGAGGCACTCCT	0.587																																						uc003qrz.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1162-1164)ctC>ctG		Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.							45.0	47.0	46.0					6																	159457891		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457891G>C	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1164C>G	6.37:g.159457891G>C			Somatic				TAGAP_uc011eft.2_Silent_p.L325L|TAGAP_uc003qsa.3_Silent_p.L210L	p.L388L	NM_054114	NP_687034	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	9	1496	-		Breast(66;0.000776)|Ovarian(120;0.0303)	388					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1164C>G	CCDS5261.1																																																																																				0.587	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		13	46	0	0	0	1	0	13	46				
BCL6	604	broad.mit.edu	37	3	187443336	187443336	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:187443336G>C	ENST00000406870.2	-	8	2156	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	BCL6_ENST00000450123.2_Missense_Mutation_p.S541C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S597C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	597					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTTCTCTCCAGAGTGAATTCG	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1789-1791)tCt>tGt		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							118.0	123.0	122.0					3																	187443336		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187443336G>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1790C>G	3.37:g.187443336G>C	ENSP00000384371:p.Ser597Cys		Somatic				LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S541C|BCL6_uc010hza.2_Missense_Mutation_p.S495C|BCL6_uc003frq.2_Missense_Mutation_p.S597C	p.S597C	NM_001130845	NP_001697	WXS	Illumina GAIIx	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	7	2247	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		597					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1790C>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307051	0.81247	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.19938	2.11;2.11;2.11	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.56769	1.78	0.58432	D	0.999994	D;P	0.89917	1.0;0.914	D;P	0.87578	0.998;0.665	T	0.34850	-0.9812	10	0.87932	D	0	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	541;597	B8PSA7;P41182	.;BCL6_HUMAN	C	597;597;541	ENSP00000384371:S597C;ENSP00000232014:S597C;ENSP00000413122:S541C	ENSP00000232014:S597C	S	-	2	0	BCL6	188926030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.619000	0.88677	0.655000	0.94253	TCT		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		19	66	0	0	0	1	0	19	66				
RPTN	126638	broad.mit.edu	37	1	152129034	152129034	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152129034G>A	ENST00000316073.3	-	3	605	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	181	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATTGTGGTGAGAATCTCTG	0.458																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(541-543)Cac>Tac		Homo sapiens repetin (RPTN), mRNA.							493.0	420.0	442.0					1																	152129034		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129034G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.541C>T	1.37:g.152129034G>A	ENSP00000317895:p.His181Tyr		Somatic					p.H181Y	NM_001122965	NP_001116437	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			2	606	-			181			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.541C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629945	0.46944	.	.	ENSG00000215853	ENST00000316073	T	0.13778	2.56	5.17	0.583	0.17417	.	1.160040	0.06847	N	0.796661	T	0.03178	0.0093	M	0.73217	2.22	0.09310	N	1	P	0.40144	0.704	B	0.33521	0.165	T	0.39014	-0.9634	10	0.06494	T	0.89	-0.137	3.6988	0.08375	0.306:0.0:0.5266:0.1674	.	181	Q6XPR3	RPTN_HUMAN	Y	181	ENSP00000317895:H181Y	ENSP00000317895:H181Y	H	-	1	0	RPTN	150395658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	0.127000	0.18452	-0.402000	0.06365	CAC		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		77	307	0	0	0	1	0	77	307				
VTA1	51534	broad.mit.edu	37	6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	rs150897330	byFrequency	TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:142510607C>G	ENST00000367630.4	+	5	514	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.I94M	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	152	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343																																						uc003qiw.3																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(454-456)atC>atG		Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.							110.0	112.0	112.0					6																	142510607		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142510607C>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.456C>G	6.37:g.142510607C>G	ENSP00000356602:p.Ile152Met		Somatic				VTA1_uc011edu.2_Missense_Mutation_p.I94M	p.I152M	NM_016485	NP_057569	WXS	Illumina GAIIx	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	4	471	+	Breast(32;0.155)		152			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.456C>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378253	0.61735	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.60299	0.2;0.2;0.2	5.46	0.341	0.15991	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.82923	2.615	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.60424	-0.7266	10	0.51188	T	0.08	-12.7033	4.5264	0.11983	0.1489:0.4145:0.0:0.4366	.	94;152	E7ETQ7;Q9NP79	.;VTA1_HUMAN	M	152;94;94;153	ENSP00000356602:I152M;ENSP00000356593:I94M;ENSP00000395767:I94M	ENSP00000356593:I94M	I	+	3	3	VTA1	142552300	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.940000	0.28992	-0.020000	0.14032	0.557000	0.71058	ATC		0.343	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		27	38	0	0	0	1	0	27	38				
ELOVL1	64834	broad.mit.edu	37	1	43829727	43829727	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:43829727G>A	ENST00000372458.3	-	8	817	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ELOVL1_ENST00000413844.2_Missense_Mutation_p.H207Y|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	234					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGATGAGGTGAATAATGACT	0.478																																						uc001cjb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(700-702)Cac>Tac		Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.							124.0	109.0	114.0					1																	43829727		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43829727G>A	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.700C>T	1.37:g.43829727G>A	ENSP00000361536:p.His234Tyr		Somatic				ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.H207Y	p.H234Y	NM_022821	NP_073732	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			7	828	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	234					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.700C>T	CCDS485.1	.	.	.	.	.	.	.	.	.	.	G	5.976	0.364036	0.11296	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.20598	2.06;2.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	N	0.01431	-0.87	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.19946	0.007;0.027	T	0.23048	-1.0199	10	0.02654	T	1	-1.4123	19.819	0.96583	0.0:0.0:1.0:0.0	.	207;234	B4DP24;Q9BW60	.;ELOV1_HUMAN	Y	234;207	ENSP00000361536:H234Y;ENSP00000416024:H207Y	ENSP00000361536:H234Y	H	-	1	0	ELOVL1	43602314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.688000	0.91661	0.591000	0.81541	CAC		0.478	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	43	0	0	0	1	0	15	43				
PI4KB	5298	broad.mit.edu	37	1	151265367	151265367	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:151265367G>C	ENST00000368873.1	-	12	2580	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	PI4KB_ENST00000271657.5_Silent_p.L816L|PI4KB_ENST00000368875.2_Silent_p.L816L|PI4KB_ENST00000529142.1_Silent_p.L472L|PI4KB_ENST00000368874.4_Silent_p.L789L|PI4KB_ENST00000368872.1_Silent_p.L789L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	804					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGTCATAGAGTTTGGTGG	0.587																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2446-2448)ctC>ctG		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							147.0	140.0	142.0					1																	151265367		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265367G>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2412C>G	1.37:g.151265367G>C			Somatic				PI4KB_uc001exs.3_Silent_p.L789L|PI4KB_uc001exu.3_Silent_p.L789L|PI4KB_uc010pcw.2_Silent_p.L472L|PI4KB_uc001ext.3_Silent_p.L804L	p.L816L	NM_002651	NP_001185704	WXS	Illumina GAIIx	Phase_I	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	3087	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		804					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2448C>G																																																																																					0.587	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		14	50	0	0	0	1	0	14	50				
LMTK3	114783	broad.mit.edu	37	19	49005818	49005818	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:49005818G>C	ENST00000600059.1	-	7	893	c.666C>G	c.(664-666)ctC>ctG	p.L222L	LMTK3_ENST00000270238.3_Silent_p.L251L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGGGCTCGGAGGTAACGCT	0.697																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(751-753)ctC>ctG		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							17.0	21.0	20.0					19																	49005818		1999	4126	6125	SO:0001819	synonymous_variant	114783							g.chr19:49005818G>C	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.666C>G	19.37:g.49005818G>C			Somatic					p.L251L	NM_001080434	NP_001073903	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	7	753	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.753C>G																																																																																					0.697	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		5	22	0	0	0	1	0	5	22				
ABCC12	94160	broad.mit.edu	37	16	48155668	48155668	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr16:48155668C>T	ENST00000311303.3	-	11	2016	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	ABCC12_ENST00000416054.1_Silent_p.V557V|ABCC12_ENST00000448542.1_Silent_p.V557V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	557	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTTTCTCTCACATTTCCAT	0.433																																						uc002efc.1																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1669-1671)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.							86.0	73.0	77.0					16																	48155668		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48155668C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1671G>A	16.37:g.48155668C>T			Somatic				ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.V557V	p.V557V	NM_033226	NP_150229	WXS	Illumina GAIIx	Phase_I	Q96J65	MRP9_HUMAN			10	2017	-		all_cancers(37;0.0474)|all_lung(18;0.047)	557			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.1671G>A	CCDS10730.1																																																																																				0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	35	0	0	0	1	0	14	35				
ETAA1	54465	broad.mit.edu	37	2	67632194	67632194	+	Silent	SNP	T	T	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:67632194T>C	ENST00000272342.5	+	5	2510	c.2380T>C	c.(2380-2382)Ttg>Ctg	p.L794L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	794						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAGAAGAAATTGAGTACTAA	0.328																																						uc002sdz.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2380-2382)Ttg>Ctg		Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.							46.0	47.0	47.0					2																	67632194		2202	4296	6498	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67632194T>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2380T>C	2.37:g.67632194T>C			Somatic					p.L794L	NM_019002	NP_061875	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			4	2519	+			794					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.2380T>C	CCDS1882.1																																																																																				0.328	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		20	33	0	0	0	1	0	20	33				
SERPINA9	327657	broad.mit.edu	37	14	94942490	94942490	+	5'Flank	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:94942490C>T	ENST00000380365.3	-	0	0				SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000546329.1_Silent_p.E34E|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R7K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R7K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ggttcctcttctcctgccctg	0.532																																						uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(19-21)aGa>aAa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.							326.0	330.0	329.0					14																	94942490		2072	4217	6289	SO:0001631	upstream_gene_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94942490C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942490C>T	Exception_encountered		Somatic				SERPINA9_uc001yde.3_Missense_Mutation_p.R7K|SERPINA9_uc010avc.3_5'UTR|SERPINA9_uc001ydg.3_Silent_p.E34E|SERPINA9_uc001ydh.1_Missense_Mutation_p.R7K|SERPINA9_uc001ydi.1_Silent_p.E34E	p.R7K	NM_175739	NP_783866	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	0	181	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	0					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.20G>A		.	.	.	.	.	.	.	.	.	.	C	8.750	0.921089	0.17982	.	.	ENSG00000170054	ENST00000298845;ENST00000337425	D;D	0.84516	-1.86;-1.77	2.0	2.0	0.26442	.	.	.	.	.	T	0.75428	0.3848	.	.	.	0.43073	D	0.994717	B;B	0.30211	0.273;0.273	B;B	0.21546	0.025;0.035	T	0.75230	-0.3391	8	0.62326	D	0.03	.	7.5365	0.27712	0.0:1.0:0.0:0.0	.	7;7	Q86WD7-7;Q86WD7-2	.;.	K	7	ENSP00000298845:R7K;ENSP00000337133:R7K	ENSP00000298845:R7K	R	-	2	0	SERPINA9	94012243	0.000000	0.05858	0.497000	0.27552	0.125000	0.20455	0.316000	0.19469	1.438000	0.47492	0.508000	0.49915	AGA		0.532	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		49	144	0	0	0	1	0	49	144				
TMEM54	113452	broad.mit.edu	37	1	33363789	33363789	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:33363789G>C	ENST00000373463.3	-	2	267	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	TMEM54_ENST00000329151.5_Missense_Mutation_p.Q50E|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	50						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGCATCTTGAGGGGTGCCC	0.617																																						uc001bwi.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(148-150)Caa>Gaa		Homo sapiens transmembrane protein 54 (TMEM54), mRNA.							132.0	98.0	110.0					1																	33363789		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33363789G>C		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.148C>G	1.37:g.33363789G>C	ENSP00000362562:p.Gln50Glu		Somatic				TMEM54_uc001bwj.1_Missense_Mutation_p.Q50E|TMEM54_uc001bwk.1_Missense_Mutation_p.Q50E	p.Q50E	NM_033504	NP_277039	WXS	Illumina GAIIx	Phase_I	Q969K7	TMM54_HUMAN			1	262	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	50					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.148C>G	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	1.538	-0.542503	0.04053	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.41065	1.01;1.01	5.26	3.31	0.37934	.	1.054500	0.07225	N	0.861450	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.004;0.042	B;B;B	0.25506	0.036;0.006;0.061	T	0.35176	-0.9799	10	0.33141	T	0.24	.	12.8304	0.57742	0.0:0.0:0.5444:0.4556	.	50;50;50	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	E	50	ENSP00000362562:Q50E;ENSP00000328630:Q50E	ENSP00000328630:Q50E	Q	-	1	0	TMEM54	33136376	0.219000	0.23619	0.001000	0.08648	0.008000	0.06430	1.981000	0.40628	0.647000	0.30713	0.655000	0.94253	CAA		0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		19	47	0	0	0	1	0	19	47				
PHLDB2	90102	broad.mit.edu	37	3	111603725	111603725	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:111603725G>A	ENST00000431670.2	+	2	1212	c.801G>A	c.(799-801)ctG>ctA	p.L267L	PHLDB2_ENST00000478922.1_Silent_p.L267L|PHLDB2_ENST00000393925.3_Silent_p.L267L|PHLDB2_ENST00000412622.1_Silent_p.L267L|PHLDB2_ENST00000477695.1_Silent_p.L267L|PHLDB2_ENST00000393923.3_Silent_p.L294L|PHLDB2_ENST00000481953.1_Silent_p.L267L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	267						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAACCAGCTGACACCTCTCA	0.478																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(799-801)ctG>ctA		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							59.0	58.0	58.0					3																	111603725		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603725G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.801G>A	3.37:g.111603725G>A			Somatic				PHLDB2_uc003dyc.3_Silent_p.L294L|PHLDB2_uc003dyd.3_Silent_p.L267L|PHLDB2_uc003dyg.3_Silent_p.L267L|PHLDB2_uc003dyh.3_Silent_p.L267L|PHLDB2_uc003dye.4_Silent_p.L267L|PHLDB2_uc003dyf.4_Silent_p.L267L	p.L267L	NM_001134438	NP_001127911	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			1	1212	+			267					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.801G>A	CCDS46886.1																																																																																				0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		18	37	0	0	0	1	0	18	37				
ANKRD35	148741	broad.mit.edu	37	1	145555755	145555755	+	Missense_Mutation	SNP	C	C	T	rs201747548		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:145555755C>T	ENST00000355594.4	+	2	190	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ANKRD35_ENST00000544626.1_Missense_Mutation_p.R35C	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	35										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTGGGACGCGTGGCTGC	0.602																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(103-105)Cgc>Tgc		Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	68.0	68.0		103	4.9	1.0	1		68	0,8600		0,0,4300	no	missense	ANKRD35	NM_144698.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	35/1002	145555755	1,13005	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145555755C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.103C>T	1.37:g.145555755C>T	ENSP00000347802:p.Arg35Cys		Somatic				ANKRD35_uc010oyx.1_5'UTR	p.R35C	NM_144698	NP_653299	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			1	211	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		35					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.103C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219169	0.79464	2.27E-4	0.0	ENSG00000198483	ENST00000355594;ENST00000544626	T;T	0.62232	0.04;0.04	5.84	4.93	0.64822	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000137	T	0.26557	0.0649	N	0.10972	0.075	0.46011	D	0.998816	B	0.29627	0.252	B	0.26614	0.071	T	0.33548	-0.9864	10	0.87932	D	0	-4.847	11.1709	0.48571	0.0:0.9155:0.0:0.0845	.	35	Q8N283	ANR35_HUMAN	C	35	ENSP00000347802:R35C;ENSP00000442671:R35C	ENSP00000347802:R35C	R	+	1	0	ANKRD35	144267112	0.567000	0.26626	0.995000	0.50966	0.932000	0.56968	0.758000	0.26447	1.479000	0.48272	0.655000	0.94253	CGC		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		14	26	0	0	0	1	0	14	26				
NCAPG2	54892	broad.mit.edu	37	7	158478911	158478911	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:158478911C>G	ENST00000409423.1	-	9	962	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NCAPG2_ENST00000356309.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E264Q|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E56Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	264					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAATAAATTTCTGCAATGTAT	0.254																																						uc011kwe.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(790-792)Gaa>Caa		Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.							31.0	31.0	31.0					7																	158478911		1780	4041	5821	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158478911C>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.790G>C	7.37:g.158478911C>G	ENSP00000386569:p.Glu264Gln		Somatic				NCAPG2_uc010lqu.1_Missense_Mutation_p.E56Q|NCAPG2_uc003wnx.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnv.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnw.1_Non-coding_Transcript	p.E264Q	NM_017760	NP_060230	WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	7	935	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	264					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.790G>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.947586|3.947586	0.73787|0.73787	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Armadillo-type fold (1);|.	0.147419|.	0.64402|.	D|.	0.000011|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.79108|.	0.986;0.961;0.992|.	T|T	0.74080|0.74080	-0.3780|-0.3780	10|5	0.42905|.	T|.	0.14|.	-15.0116|-15.0116	17.3635|17.3635	0.87357|0.87357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;56;264|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	Q|H	264;264;56;264;264|65	ENSP00000348657:E264Q;ENSP00000386569:E264Q;ENSP00000275830:E56Q;ENSP00000387007:E264Q;ENSP00000388326:E264Q|.	ENSP00000275830:E56Q|.	E|Q	-|-	1|3	0|2	NCAPG2|NCAPG2	158171672|158171672	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.965000|0.965000	0.64279|0.64279	5.262000|5.262000	0.65501|0.65501	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.254	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	19	0	0	0	1	0	12	19				
RHOQ	23433	broad.mit.edu	37	2	46803742	46803742	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:46803742G>C	ENST00000238738.4	+	4	728	c.409G>C	c.(409-411)Gat>Cat	p.D137H	RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	137					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGACTGAATGATATGAAAGA	0.318																																						uc002rva.3																			0				skin(2)	2						c.(409-411)Gat>Cat		Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.							87.0	92.0	90.0					2																	46803742		2203	4298	6501	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803742G>C	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.409G>C	2.37:g.46803742G>C	ENSP00000238738:p.Asp137His		Somatic				BC048424_uc002rvb.3_Intron	p.D137H	NM_012249	NP_036381	WXS	Illumina GAIIx	Phase_I	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	728	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	137					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.409G>C	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736178	0.69189	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.69806	-0.43;-0.43	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.38692	1.165	0.80722	D	1	D	0.63046	0.992	P	0.61201	0.885	T	0.76027	-0.3109	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	137	P17081	RHOQ_HUMAN	H	137;58	ENSP00000238738:D137H;ENSP00000428006:D58H	ENSP00000238738:D137H	D	+	1	0	RHOQ	46657246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.878000	0.98634	0.650000	0.86243	GAT		0.318	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		15	50	0	0	0	1	0	15	50				
ATP11C	286410	broad.mit.edu	37	X	138871491	138871491	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:138871491C>G	ENST00000327569.3	-	13	1470	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ATP11C_ENST00000359686.2_Missense_Mutation_p.D458H|ATP11C_ENST00000361648.2_Missense_Mutation_p.D458H|ATP11C_ENST00000370557.1_Missense_Mutation_p.D455H|ATP11C_ENST00000370543.1_Missense_Mutation_p.D458H|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	458					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCACCTTATCTACTTTGTCA	0.318																																						uc004faz.3																			0		p.V457G(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1372-1374)Gat>Cat		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							127.0	105.0	113.0					X																	138871491		2203	4299	6502	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138871491C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1372G>C	X.37:g.138871491C>G	ENSP00000332756:p.Asp458His		Somatic				ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.D458H	p.D458H	NM_173694	NP_775965	WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			12	1471	-	Acute lymphoblastic leukemia(192;0.000127)		458					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1372G>C	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.430516|2.430516	0.43122|0.43122	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686|ENST00000422228	T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04|.	5.7|5.7	5.7|5.7	0.88788|0.88788	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.861742|.	0.10536|.	N|.	0.663220|.	T|.	0.39963|.	0.1098|.	N|N	0.05050|0.05050	-0.12|-0.12	0.37707|0.37707	D|D	0.924448|0.924448	B;B|.	0.31026|.	0.259;0.304|.	B;B|.	0.32022|.	0.136;0.139|.	T|.	0.43893|.	-0.9363|.	10|.	0.30078|.	T|.	0.28|.	.|.	17.7536|17.7536	0.88442|0.88442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;458|.	Q8NB49-3;Q8NB49|.	.;AT11C_HUMAN|.	H|Y	455;458;458;458;458|33	ENSP00000359588:D455H;ENSP00000355165:D458H;ENSP00000332756:D458H;ENSP00000359574:D458H;ENSP00000352715:D458H|.	ENSP00000332756:D458H|.	D|X	-|-	1|3	0|2	ATP11C|ATP11C	138699157|138699157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	3.000000|3.000000	0.49481|0.49481	2.411000|2.411000	0.81874|0.81874	0.529000|0.529000	0.55759|0.55759	GAT|TAG		0.318	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		8	32	0	0	0	1	0	8	32				
C14orf79	122616	broad.mit.edu	37	14	105455319	105455319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:105455319C>T	ENST00000547315.1	+	2	1102	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549240.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	155										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GTGTGCTTTTCAAGAAATAAC	0.383																																						uc001ypy.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(463-465)Caa>Taa		Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.							99.0	92.0	94.0					14																	105455319		1860	4095	5955	SO:0001587	stop_gained	122616							g.chr14:105455319C>T		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.463C>T	14.37:g.105455319C>T	ENSP00000450114:p.Gln155*		Somatic				C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	p.Q155*	NM_174891	NP_777551	WXS	Illumina GAIIx	Phase_I	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	616	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	155					B2RPK9|Q9BTP4	Nonsense_Mutation	SNP	ENST00000547315.1	37	c.463C>T	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	40	8.170074	0.98688	.	.	ENSG00000140104	ENST00000547315	.	.	.	4.57	4.57	0.56435	.	0.382961	0.18810	N	0.130556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.1115	12.8783	0.58001	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000374614:Q155X	Q	+	1	0	C14orf79	104526364	0.981000	0.34729	0.998000	0.56505	0.166000	0.22503	1.954000	0.40362	2.098000	0.63641	0.563000	0.77884	CAA		0.383	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		29	49	0	0	0	1	0	29	49				
RPTN	126638	broad.mit.edu	37	1	152127926	152127926	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152127926G>A	ENST00000316073.3	-	3	1713	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	550	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCTGTCTGACCATA	0.522																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1648-1650)aCa>aTa		Homo sapiens repetin (RPTN), mRNA.							730.0	646.0	672.0					1																	152127926		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127926G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1649C>T	1.37:g.152127926G>A	ENSP00000317895:p.Thr550Ile		Somatic					p.T550I	NM_001122965	NP_001116437	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			2	1714	-			550			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1649C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698768	0.15106	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.14766	2.48	4.42	1.37	0.22104	.	0.566808	0.13306	N	0.397893	T	0.06142	0.0159	M	0.81942	2.565	0.09310	N	1	B	0.19706	0.038	B	0.12156	0.007	T	0.31916	-0.9926	10	0.40728	T	0.16	0.1957	5.7557	0.18172	0.1903:0.1601:0.6496:0.0	.	550	Q6XPR3	RPTN_HUMAN	I	550;205	ENSP00000317895:T550I	ENSP00000317895:T550I	T	-	2	0	RPTN	150394550	0.032000	0.19561	0.001000	0.08648	0.018000	0.09664	1.153000	0.31676	-0.016000	0.14127	-0.476000	0.04901	ACA		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		37	702	0	0	0	1	0	37	702				
RNF123	63891	broad.mit.edu	37	3	49724229	49724229	+	5'Flank	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:49724229G>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.L245L|MST1_ENST00000383728.3_Silent_p.L170L|MST1_ENST00000494828.2_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACCTTGGTCGAGGAACCTGG	0.622																																						uc011bcs.1																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(730-732)tCg>tAg		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							14.0	16.0	15.0					3																	49724229		2196	4296	6492	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724229G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724229G>T	Exception_encountered		Somatic				MST1_uc003cxg.3_Silent_p.L245L|MST1_uc010hkx.2_Silent_p.L166L|MST1_uc011bct.1_Silent_p.L245L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.S244*			WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	803	-			404			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Nonsense_Mutation	SNP	ENST00000327697.6	37	c.731C>A	CCDS33758.1																																																																																				0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	25	0	0	0	1	0	6	25				
AFAP1L2	84632	broad.mit.edu	37	10	116067643	116067643	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:116067643G>C	ENST00000304129.4	-	10	1022	c.993C>G	c.(991-993)ctC>ctG	p.L331L	AFAP1L2_ENST00000369271.3_Silent_p.L331L|AFAP1L2_ENST00000545353.1_Silent_p.L384L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	331					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCTCAGTTTGAGGCCAGCAG	0.483																																						uc010qse.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1150-1152)ctC>ctG		Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.							118.0	106.0	110.0					10																	116067643		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity	g.chr10:116067643G>C	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.993C>G	10.37:g.116067643G>C			Somatic				AFAP1L2_uc001lbn.3_Silent_p.L331L|AFAP1L2_uc001lbo.3_Silent_p.L331L|AFAP1L2_uc001lbp.3_Silent_p.L359L|AFAP1L2_uc001lbr.1_Silent_p.L331L|AFAP1L2_uc010qsd.2_5'Flank	p.L384L	NM_001001936	NP_001001936	WXS	Illumina GAIIx	Phase_I	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	10	1453	-		Colorectal(252;0.175)|Breast(234;0.231)	331			PH 2.		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.1152C>G	CCDS31286.1																																																																																				0.483	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		7	43	0	0	0	1	0	7	43				
LAMC3	10319	broad.mit.edu	37	9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:133936606G>C	ENST00000361069.4	+	13	2476	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	781	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2341-2343)caG>caC		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							21.0	22.0	22.0					9																	133936606		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936606G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2343G>C	9.37:g.133936606G>C	ENSP00000354360:p.Gln781His		Somatic					p.Q781H	NM_006059	NP_006050	WXS	Illumina GAIIx	Phase_I	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2441	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	781			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2343G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181805	0.38511	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61274	0.12	4.79	2.92	0.33932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.21194	0.64	0.40579	D	0.981371	B	0.24721	0.11	B	0.25759	0.063	T	0.21930	-1.0231	10	0.42905	T	0.14	.	5.2398	0.15465	0.1774:0.0:0.6618:0.1607	.	781	Q9Y6N6	LAMC3_HUMAN	H	781	ENSP00000354360:Q781H	ENSP00000347156:Q781H	Q	+	3	2	LAMC3	132926427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.472000	0.35376	1.018000	0.39521	0.557000	0.71058	CAG		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	17	0	0	0	1	0	3	17				
GAK	2580	broad.mit.edu	37	4	853445	853445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr4:853445G>A	ENST00000314167.4	-	24	3342	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q999*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1078					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCGGGTTCTGAGACTTGGTC	0.612																																						uc003gbm.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3232-3234)Cag>Tag		Homo sapiens cyclin G associated kinase (GAK), mRNA.							64.0	68.0	66.0					4																	853445		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853445G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3232C>T	4.37:g.853445G>A	ENSP00000314499:p.Gln1078*		Somatic				GAK_uc003gbn.4_Nonsense_Mutation_p.Q999*|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Nonsense_Mutation_p.Q931*	p.Q1078*	NM_005255	NP_005246	WXS	Illumina GAIIx	Phase_I	O14976	GAK_HUMAN		Colorectal(103;0.219)	23	3431	-			1078					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3232C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.086510|5.086510	0.94100|0.94100	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	.|T	.|0.38722	.|1.12	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.222797|.	0.39759|.	N|.	0.001264|.	.|T	.|0.49150	.|0.1540	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64292	.|-0.6442	.|5	0.35671|0.72032	T|D	0.21|0.01	-28.9117|-28.9117	8.8497|8.8497	0.35192|0.35192	0.1046:0.0:0.8954:0.0|0.1046:0.0:0.8954:0.0	.|.	.|.	.|.	.|.	X|L	354;1078;999|197	.|ENSP00000426062:S197L	ENSP00000314499:Q1078X|ENSP00000426062:S197L	Q|S	-|-	1|2	0|0	GAK|GAK	843445|843445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.098000|5.098000	0.64548|0.64548	2.132000|2.132000	0.65825|0.65825	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	68	0	0	0	1	0	20	68				
CHGB	1114	broad.mit.edu	37	20	5904455	5904455	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr20:5904455G>A	ENST00000378961.4	+	4	1869	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	555						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAATGAGCTGACCTTGAACG	0.453																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1663-1665)ctG>ctA		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							74.0	71.0	72.0					20																	5904455		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904455G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1665G>A	20.37:g.5904455G>A			Somatic				CHGB_uc010zqz.2_Silent_p.L238L	p.L555L	NM_001819	NP_001810	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			3	1971	+			555					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1665G>A	CCDS13092.1																																																																																				0.453	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	55	0	0	0	1	0	20	55				
P4HB	5034	broad.mit.edu	37	17	79804400	79804400	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr17:79804400C>G	ENST00000331483.4	-	7	1183	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.E277Q	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	321					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ATCTCCTCCTCCAGGGTGATG	0.577																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(961-963)Gag>Cag		Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.							109.0	83.0	92.0					17																	79804400		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804400C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.961G>C	17.37:g.79804400C>G	ENSP00000327801:p.Glu321Gln		Somatic				P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	p.E321Q	NM_000918	NP_000909	WXS	Illumina GAIIx	Phase_I	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		6	1158	-	all_neural(118;0.0878)|Ovarian(332;0.12)		321					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.961G>C	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891015|4.891015	0.91889|0.91889	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593;ENST00000439918	T|.	0.14516|.	2.5|.	5.74|5.74	4.76|4.76	0.60689|0.60689	Thioredoxin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82412|0.82412	0.5031|0.5031	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	P|.	0.46395|.	0.877|.	P|.	0.59825|.	0.864|.	D|D	0.85338|0.85338	0.1094|0.1094	10|5	0.66056|.	D|.	0.02|.	.|.	16.8818|16.8818	0.86065|0.86065	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	321|.	P07237|.	PDIA1_HUMAN|.	Q|A	321;264;305|86;107	ENSP00000327801:E321Q|.	ENSP00000327801:E321Q|.	E|G	-|-	1|2	0|0	P4HB|P4HB	77397689|77397689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	6.002000|6.002000	0.70693|0.70693	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.577	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		20	59	0	0	0	1	0	20	59				
CT62	196993	broad.mit.edu	37	15	71403760	71403760	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:71403760G>C	ENST00000449977.2	-	4	647	c.141C>G	c.(139-141)ctC>ctG	p.L47L	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	47										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCATTCCAGAGTTCCTGGA	0.493																																						uc002ata.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(139-141)ctC>ctG		Homo sapiens cancer/testis antigen 62 (CT62), mRNA.							25.0	25.0	25.0					15																	71403760		1905	4121	6026	SO:0001819	synonymous_variant	196993							g.chr15:71403760G>C	BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.141C>G	15.37:g.71403760G>C			Somatic					p.L47L	NM_001102658	NP_001096128	WXS	Illumina GAIIx	Phase_I	P0C5K7	CT62_HUMAN			3	654	-			47						Silent	SNP	ENST00000449977.2	37	c.141C>G	CCDS45295.1																																																																																				0.493	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		6	11	0	0	0	1	0	6	11				
POLD4	57804	broad.mit.edu	37	11	67120989	67120989	+	5'UTR	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:67120989G>A	ENST00000312419.3	-	0	28				AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000539074.1_5'Flank|POLD4_ENST00000529704.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit						base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GCGGCGGGCAGACAAGATGAC	0.637																																						uc001okn.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.e1-1		Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.																																				SO:0001623	5_prime_UTR_variant	57804				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:67120989G>A	AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"""DNA polymerases"""	14106	protein-coding gene	gene with protein product	"""DNA polymerase delta smallest subunit p12"""	611525	"""polymerase (DNA-directed), delta 4"""			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.-119C>T	11.37:g.67120989G>A			Somatic				LOC100130987_uc010rpo.1_Intron|POLD4_uc001okm.3_5'UTR				WXS	Illumina GAIIx	Phase_I	Q9HCU8	DPOD4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.08e-06)		1		-								F5H506	Splice_Site	SNP	ENST00000312419.3	37	c.1_splice	CCDS8158.1																																																																																				0.637	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173		3	3	0	0	0	1	0	3	3				
AKAP13	11214	broad.mit.edu	37	15	86205661	86205661	+	Intron	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:86205661G>C	ENST00000394518.2	+	13	4894				RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_Intron|AKAP13_ENST00000361243.2_Silent_p.L1596L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCTGGCCTGAGTGCTGACT	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blu.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4786-4788)ctG>ctC		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.							186.0	176.0	179.0					15																	86205661		2202	4299	6501	SO:0001627	intron_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	g.chr15:86205661G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4800-2133G>C	15.37:g.86205661G>C			Somatic				AKAP13_uc002blt.1_Intron|AKAP13_uc002blv.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Intron	p.L1596L	NM_006738	NP_006729	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			11	4958	+			1596					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.4788G>C	CCDS32319.1																																																																																				0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		29	75	0	0	0	1	0	29	75				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	41	0	0	0	1	0	22	41				
HECTD4	283450	broad.mit.edu	37	12	112701951	112701951	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:112701951C>T	ENST00000430131.2	-	16	2534	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	HECTD4_ENST00000550722.1_Silent_p.L751L|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Silent_p.L713L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	463					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGGTTTAATCAAAATAGTGT	0.408																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(2251-2253)ttG>ttA		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							113.0	86.0	95.0					12																	112701951		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112701951C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1389G>A	12.37:g.112701951C>T			Somatic				C12orf51_uc010syk.1_Silent_p.L286L|C12orf51_uc001tts.2_Silent_p.L286L|C12orf51_uc001ttt.3_Silent_p.L286L	p.L751L	NM_001109662	NP_001103132	WXS	Illumina GAIIx	Phase_I					16	2649	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.2253G>A																																																																																					0.408	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	12	0	0	0	1	0	4	12				
NDUFAF6	137682	broad.mit.edu	37	8	96044311	96044311	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr8:96044311G>A	ENST00000396124.4	+	2	309	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E44K|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.W2*|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.W2*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	96					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										CTTTAATGTGGAACTGGCTCA	0.383																																						uc003yhj.3																			0											c.(286-288)Gaa>Aaa		Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.							94.0	97.0	96.0					8																	96044311		2203	4300	6503	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96044311G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.286G>A	8.37:g.96044311G>A	ENSP00000379430:p.Glu96Lys		Somatic				NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.E44K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	p.E96K	NM_152416	NP_689629	WXS	Illumina GAIIx	Phase_I	Q330K2	CH038_HUMAN			1	309	+			96					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.286G>A	CCDS6266.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.262034|9.262034	0.99118|0.99118	.|.	.|.	ENSG00000156170|ENSG00000156170	ENST00000542894;ENST00000396124|ENST00000523378;ENST00000396113;ENST00000396111	D;D|.	0.84070|.	-1.8;-1.8|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Terpenoid synthase (2);|.	8.480580|.	0.01362|.	N|.	0.012288|.	D|.	0.85665|.	0.5749|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;D|.	0.79784|.	0.993;0.948|.	D|.	0.86981|.	0.2104|.	10|.	0.72032|0.42905	D|T	0.01|0.14	-16.0926|-16.0926	18.4087|18.4087	0.90543|0.90543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;44|.	Q330K2;Q330K2-2|.	CH038_HUMAN;.|.	K|X	44;96|2	ENSP00000444515:E44K;ENSP00000379430:E96K|.	ENSP00000379430:E96K|ENSP00000379417:W2X	E|W	+|+	1|3	0|0	C8orf38|C8orf38	96113487|96113487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.882000|8.882000	0.92420|0.92420	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.383	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		17	44	0	0	0	1	0	17	44				
DPP3	10072	broad.mit.edu	37	11	66264824	66264824	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:66264824G>C	ENST00000360510.2	+	16	1819	c.1754G>C	c.(1753-1755)gGa>gCa	p.G585A	DPP3_ENST00000531863.1_Missense_Mutation_p.G605A|DPP3_ENST00000541961.1_Missense_Mutation_p.G585A|DPP3_ENST00000530165.1_Missense_Mutation_p.G555A|DPP3_ENST00000453114.1_Missense_Mutation_p.G585A|DPP3_ENST00000532677.1_Missense_Mutation_p.G604A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	585					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G585E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCTGGCGAGGGACTCGTTACC	0.622																																						uc001oig.1																			1	Substitution - Missense(1)	p.G585E(2)	breast(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1753-1755)gGa>gCa		Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.							55.0	56.0	56.0					11																	66264824		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66264824G>C	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1754G>C	11.37:g.66264824G>C	ENSP00000353701:p.Gly585Ala		Somatic				DPP3_uc001oif.1_Missense_Mutation_p.G585A|DPP3_uc010rpe.1_Missense_Mutation_p.G574A|BBS1_uc001oih.1_5'UTR	p.G585A	NM_005700	NP_569710	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			15	1816	+			585					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1754G>C	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736950	0.49045	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.85	5.85	0.93711	.	0.148161	0.64402	D	0.000010	T	0.34978	0.0916	L	0.55103	1.725	0.51767	D	0.99993	B;P	0.36616	0.233;0.561	B;P	0.47251	0.16;0.542	T	0.05632	-1.0873	10	0.49607	T	0.09	.	10.9891	0.47539	0.084:0.0:0.916:0.0	.	604;585	G3V1D3;Q9NY33	.;DPP3_HUMAN	A	605;604;585;585;585;555;483	ENSP00000432782:G605A;ENSP00000435284:G604A;ENSP00000353701:G585A;ENSP00000389943:G585A;ENSP00000440502:G585A;ENSP00000436941:G555A	ENSP00000353701:G585A	G	+	2	0	DPP3	66021400	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	5.666000	0.68059	2.767000	0.95098	0.655000	0.94253	GGA		0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			29	49	0	0	0	1	0	29	49				
CEP128	145508	broad.mit.edu	37	14	81259151	81259151	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:81259151C>G	ENST00000555265.1	-	14	1888	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	CEP128_ENST00000281129.3_Missense_Mutation_p.E505Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	505						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GATTGTTTCTCCAACGCTCGT	0.418																																						uc001xux.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1513-1515)Gag>Cag		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							196.0	185.0	189.0					14																	81259151		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259151C>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1513G>C	14.37:g.81259151C>G	ENSP00000451162:p.Glu505Gln		Somatic				CEP128_uc010asz.2_Non-coding_Transcript	p.E505Q	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			12	1684	-			505					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1513G>C	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145308	0.21288	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.37915	1.17;1.17	5.58	5.58	0.84498	.	0.129370	0.50627	D	0.000109	T	0.36826	0.0981	L	0.50333	1.59	0.80722	D	1	P	0.36199	0.543	B	0.37144	0.242	T	0.08249	-1.0731	10	0.17369	T	0.5	.	19.5769	0.95449	0.0:1.0:0.0:0.0	.	505	Q6ZU80	CE128_HUMAN	Q	505	ENSP00000281129:E505Q;ENSP00000451162:E505Q	ENSP00000281129:E505Q	E	-	1	0	CEP128	80328904	1.000000	0.71417	0.996000	0.52242	0.126000	0.20510	4.278000	0.58946	2.622000	0.88805	0.650000	0.86243	GAG		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		19	97	0	0	0	1	0	19	97				
RIOK2	55781	broad.mit.edu	37	5	96503564	96503564	+	Missense_Mutation	SNP	G	G	A	rs200897705		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr5:96503564G>A	ENST00000283109.3	-	8	1072	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.S335L	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	335	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCTGAAAATGAGAATTCAGA	0.418																																						uc003kmz.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1003-1005)tCa>tTa		Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.							144.0	151.0	149.0					5																	96503564		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503564G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1004C>T	5.37:g.96503564G>A	ENSP00000283109:p.Ser335Leu		Somatic				RIOK2_uc003kna.3_Missense_Mutation_p.S335L	p.S335L	NM_018343	NP_060813	WXS	Illumina GAIIx	Phase_I	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	7	1114	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	335			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1004C>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551069	0.45383	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.22539	1.95;1.95	5.65	4.76	0.60689	.	1.259200	0.05024	N	0.473291	T	0.28300	0.0699	L	0.56769	1.78	0.09310	N	1	B;B	0.24823	0.112;0.003	B;B	0.19666	0.026;0.002	T	0.38757	-0.9646	10	0.34782	T	0.22	-3.8624	14.2482	0.66001	0.0:0.1503:0.8497:0.0	.	335;335	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	L	335	ENSP00000283109:S335L;ENSP00000420932:S335L	ENSP00000283109:S335L	S	-	2	0	RIOK2	96529320	0.156000	0.22821	0.005000	0.12908	0.254000	0.26022	3.609000	0.54117	1.336000	0.45506	0.460000	0.39030	TCA		0.418	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		28	122	0	0	0	1	0	28	122				
FAT3	120114	broad.mit.edu	37	11	92533689	92533689	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:92533689G>A	ENST00000298047.6	+	9	7527	c.7510G>A	c.(7510-7512)Gag>Aag	p.E2504K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2354K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2504K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2504	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACGTAGCTGAGGTGAGAGA	0.493										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7510-7512)Gag>Aag		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							78.0	76.0	77.0					11																	92533689		2061	4199	6260	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533689G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7510G>A	11.37:g.92533689G>A	ENSP00000298047:p.Glu2504Lys	TCGA Ovarian(4;0.039)	Somatic					p.E2504K	NM_001008781	NP_001008781	WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			8	7527	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2504			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7510G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.438207	0.83885	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53423	0.62;0.62;0.62	5.95	5.95	0.96441	.	.	.	.	.	T	0.56775	0.2008	L	0.43757	1.38	0.80722	D	1	D	0.61697	0.99	P	0.54664	0.758	T	0.46898	-0.9158	9	0.33940	T	0.23	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2504	Q8TDW7-3	.	K	2504;2504;2354	ENSP00000298047:E2504K;ENSP00000387040:E2504K;ENSP00000432586:E2354K	ENSP00000298047:E2504K	E	+	1	0	FAT3	92173337	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.869000	0.87170	2.824000	0.97209	0.655000	0.94253	GAG		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	31	0	0	0	1	0	11	31				
