#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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
TBC1D1	23216	broad.mit.edu	37	4	38016200	38016200	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:38016200C>G	ENST00000261439.4	+	3	843	c.488C>G	c.(487-489)tCc>tGc	p.S163C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	163					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622																																						uc003gtb.3																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(487-489)tCc>tGc		Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.							99.0	97.0	98.0					4																	38016200		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38016200C>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.488C>G	4.37:g.38016200C>G	ENSP00000261439:p.Ser163Cys					TBC1D1_uc011byd.2_Missense_Mutation_p.S163C|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34C	p.S163C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			2	846	+			163					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.488C>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649349	0.29336	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14516	2.5;2.5;2.5	5.46	5.46	0.80206	Phosphotyrosine interaction domain (1);	0.000000	0.47455	D	0.000238	T	0.09598	0.0236	N	0.12182	0.205	0.30414	N	0.778802	B;B;B	0.28439	0.212;0.097;0.212	B;B;B	0.28232	0.087;0.017;0.087	T	0.07908	-1.0748	10	0.49607	T	0.09	-13.9688	14.8578	0.70355	0.0:0.8566:0.1434:0.0	.	163;163;163	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	C	163;163;34	ENSP00000423651:S163C;ENSP00000261439:S163C;ENSP00000396877:S34C	ENSP00000261439:S163C	S	+	2	0	TBC1D1	37692595	0.977000	0.34250	0.122000	0.21767	0.013000	0.08279	4.001000	0.57046	2.565000	0.86533	0.561000	0.74099	TCC		0.622	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		28	120	0	0	0	1	0	28	120				
ADAMTS7	11173	broad.mit.edu	37	15	79069817	79069817	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:79069817C>G	ENST00000388820.4	-	9	1646	c.1436G>C	c.(1435-1437)gGg>gCg	p.G479A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	479	Disintegrin.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGTAGGCCCCGTACTGGAG	0.652																																						uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1435-1437)gGg>gCg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							51.0	46.0	47.0					15																	79069817		2195	4291	6486	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79069817C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1436G>C	15.37:g.79069817C>G	ENSP00000373472:p.Gly479Ala					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479A	p.G479A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			8	1647	-			479			Disintegrin.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1436G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.753111	0.49362	.	.	ENSG00000136378	ENST00000388820	T	0.11821	2.74	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	T	0.48429	0.1499	H	0.95043	3.615	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.65043	-0.6264	10	0.87932	D	0	.	13.6895	0.62537	0.0:1.0:0.0:0.0	.	479;479	A8MQ00;Q9UKP4	.;ATS7_HUMAN	A	479	ENSP00000373472:G479A	ENSP00000373472:G479A	G	-	2	0	ADAMTS7	76856872	0.999000	0.42202	0.217000	0.23759	0.022000	0.10575	5.641000	0.67881	2.078000	0.62432	0.450000	0.29827	GGG		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	16	0	0	0	1	0	3	16				
PLXNB3	5365	broad.mit.edu	37	X	153039673	153039673	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:153039673G>C	ENST00000361971.5	+	21	3666	c.3552G>C	c.(3550-3552)gaG>gaC	p.E1184D	PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1207D|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E794D|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E837D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1184	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAGGAGGAGGTGCGCG	0.711																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3619-3621)gaG>gaC		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							15.0	14.0	14.0					X																	153039673		2177	4272	6449	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039673G>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3552G>C	X.37:g.153039673G>C	ENSP00000355378:p.Glu1184Asp					PLXNB3_uc004fii.2_Missense_Mutation_p.E1184D|PLXNB3_uc011mzd.1_Missense_Mutation_p.E823D|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	p.E1207D	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			21	3892	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1184			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3621G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435879	0.12104	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.31	0.123	0.14709	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.398644	0.28241	N	0.016061	T	0.59662	0.2210	L	0.31926	0.97	0.34500	D	0.705899	B;B;B	0.16166	0.005;0.016;0.005	B;B;B	0.20384	0.029;0.026;0.029	T	0.49523	-0.8931	10	0.12103	T	0.63	.	6.4732	0.22020	0.2927:0.3197:0.3876:0.0	.	837;1207;1184	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	D	1207;1184;837;794	ENSP00000442736:E1207D;ENSP00000355378:E1184D;ENSP00000445569:E837D;ENSP00000441919:E794D	ENSP00000355378:E1184D	E	+	3	2	PLXNB3	152692867	0.982000	0.34865	0.995000	0.50966	0.095000	0.18619	0.141000	0.16076	-0.114000	0.11936	-2.724000	0.00131	GAG		0.711	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	13	0	0	0	1	0	4	13				
CSF2RB	1439	broad.mit.edu	37	22	37333582	37333582	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr22:37333582C>T	ENST00000403662.3	+	14	1954	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	CSF2RB_ENST00000536485.1_Missense_Mutation_p.H525Y|CSF2RB_ENST00000262825.5_Missense_Mutation_p.H584Y|CSF2RB_ENST00000406230.1_Missense_Mutation_p.H584Y			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	578					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCGCCTCCCACACACCTGA	0.662																																						uc003aqc.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1750-1752)Cac>Tac		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						20.0	23.0	22.0					22																	37333582		2202	4298	6500	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333582C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1732C>T	22.37:g.37333582C>T	ENSP00000384053:p.His578Tyr					CSF2RB_uc003aqa.4_Missense_Mutation_p.H578Y	p.H584Y	NM_000395	NP_000386	P32927	IL3RB_HUMAN			12	1922	+			578					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1750C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033067	0.35893	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91464	-2.34;-2.85;-2.85;-2.85	5.08	-9.01	0.00744	.	2.704760	0.01041	N	0.004317	T	0.77130	0.4085	N	0.22421	0.69	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.37550	0.253;0.171	T	0.72090	-0.4395	10	0.18276	T	0.48	-1.2323	2.4987	0.04628	0.4742:0.2221:0.1977:0.106	.	584;578	P32927-2;P32927	.;IL3RB_HUMAN	Y	578;578;584;584;525	ENSP00000384053:H578Y;ENSP00000262825:H584Y;ENSP00000385271:H584Y;ENSP00000440003:H525Y	ENSP00000262825:H584Y	H	+	1	0	CSF2RB	35663528	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.243000	0.01194	-0.676000	0.05238	-0.357000	0.07601	CAC		0.662	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		7	18	0	0	0	1	0	7	18				
DNM1P46	196968	broad.mit.edu	37	15	100332133	100332133	+	RNA	SNP	C	C	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:100332133C>T	ENST00000341853.1	-	0	2058				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGAGCCAATGCCCAGGAGGAG	0.592																																						uc021sxl.1																			0													Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.							47.0	45.0	46.0					15																	100332133		876	1991	2867			196968							g.chr15:100332133C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332133C>T						DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript								1		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.1020G>A																																																																																					0.592	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		5	41	0	0	0	1	0	5	41				
ZNF580	51157	broad.mit.edu	37	19	56153901	56153901	+	Silent	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:56153901C>G	ENST00000543039.1	+	1	484	c.27C>G	c.(25-27)ccC>ccG	p.P9P	ZNF581_ENST00000270451.5_5'Flank|ZNF580_ENST00000545125.1_Silent_p.P9P|ZNF581_ENST00000588537.1_5'Flank|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Silent_p.P9P	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	9	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCGGCCACCCCACCCTCGGT	0.647																																						uc002qlo.3																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(25-27)ccC>ccG		Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.							14.0	16.0	16.0					19																	56153901		1813	3807	5620	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153901C>G	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"""Zinc fingers, C2H2-type"""	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.27C>G	19.37:g.56153901C>G						ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.P9P|ZNF580_uc010ygd.2_Silent_p.P9P|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	p.P9P	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	197	+			9			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.27C>G	CCDS12931.1																																																																																				0.647	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	36	0	0	0	1	0	3	36				
MARCH7	64844	broad.mit.edu	37	2	160605230	160605231	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr2:160605230_160605231GG>TT	ENST00000259050.4	+	5	1551_1552	c.1429_1430GG>TT	c.(1429-1431)GGg>TTg	p.G477L	MARCH7_ENST00000409175.1_Missense_Mutation_p.G477L|MARCH7_ENST00000539065.1_Missense_Mutation_p.G421L|MARCH7_ENST00000409591.1_Missense_Mutation_p.G439L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	477					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGGAATATCAGGGATTCTTCCT	0.47																																						uc002uax.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1429-1431)ggg>TTg		Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.																																				SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605230_160605231GG>TT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	Exception_encountered	2.37:g.160605230_160605231delinsTT	ENSP00000259050:p.Gly477Leu					MARCH7_uc010foq.3_Missense_Mutation_p.G477L|MARCH7_uc010zcn.2_Missense_Mutation_p.G421L|MARCH7_uc010for.3_Missense_Mutation_p.G439L|MARCH7_uc002uay.3_Non-coding_Transcript	p.G477L	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			4	1551_1552	+			477					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	DNP	ENST00000259050.4	37	c.1429_1430GG>TT	CCDS2210.1																																																																																				0.470	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		11	282	0	0	0	1	0	11	282				
PDS5A	23244	broad.mit.edu	37	4	39910084	39910084	+	Silent	SNP	G	G	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:39910084G>T	ENST00000303538.8	-	11	1703	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	PDS5A_ENST00000503396.1_Silent_p.A388A	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTCCCTCTTGGCAGCTGTTA	0.358																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1162-1164)gcC>gcA		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							167.0	164.0	165.0					4																	39910084		1847	4090	5937	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910084G>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1164C>A	4.37:g.39910084G>T						PDS5A_uc003guw.4_Silent_p.A388A	p.A388A	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			10	1704	-			388						Silent	SNP	ENST00000303538.8	37	c.1164C>A	CCDS47045.1																																																																																				0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		96	208	0	0	0	1	0	96	208				
STOML3	161003	broad.mit.edu	37	13	39541133	39541133	+	Silent	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:39541133G>A	ENST00000379631.4	-	7	1049	c.705C>T	c.(703-705)tcC>tcT	p.S235S	STOML3_ENST00000423210.1_Silent_p.S226S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	235					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCAGCACCATGGAGGCTGACT	0.468																																						uc001uwx.3																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(703-705)tcC>tcT		Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.							79.0	75.0	77.0					13																	39541133		2203	4300	6503	SO:0001819	synonymous_variant	161003					integral to membrane|plasma membrane		g.chr13:39541133G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.705C>T	13.37:g.39541133G>A						STOML3_uc010tez.2_Silent_p.S226S	p.S235S	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	6	843	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	235					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.705C>T	CCDS9367.1																																																																																				0.468	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			9	37	0	0	0	1	0	9	37				
MUC17	140453	broad.mit.edu	37	7	100677148	100677148	+	Silent	SNP	G	G	C	rs200836006		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:100677148G>C	ENST00000306151.4	+	3	2515	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	817	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATCACACCGGTGACCAGTC	0.488																																						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.(2449-2451)ccG>ccC		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							282.0	287.0	285.0					7																	100677148		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677148G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2451G>C	7.37:g.100677148G>C						MUC17_uc010lho.1_Non-coding_Transcript	p.P817P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	2504	+	Lung NSC(181;0.136)|all_lung(186;0.182)		817			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2451G>C	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	509	0	0	0	1	0	6	509				
SLC15A1	6564	broad.mit.edu	37	13	99339859	99339859	+	Silent	SNP	C	C	G	rs146831294		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:99339859C>G	ENST00000376503.5	-	21	1858	c.1803G>C	c.(1801-1803)acG>acC	p.T601T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	601					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTCCAATCCCGTGACAGAGA	0.423																																						uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1801-1803)acG>acC		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						135.0	127.0	129.0					13																	99339859		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99339859C>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1803G>C	13.37:g.99339859C>G							p.T601T	NM_005073	NP_005064	P46059	S15A1_HUMAN			20	1880	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		601					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1803G>C	CCDS9489.1																																																																																				0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		4	152	0	0	0	1	0	4	152				
VMP1	81671	broad.mit.edu	37	17	57917128	57917129	+	Splice_Site	DNP	GG	GG	TT			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr17:57917128_57917129GG>TT	ENST00000262291.4	+	12	1387_1388	c.1077_1078GG>TT	c.(1075-1080)caGGga>caTTga	p.359_360QG>H*	VMP1_ENST00000545362.1_Splice_Site_p.303_304QG>H*|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Splice_Site_p.225_226QG>H*|VMP1_ENST00000536180.1_Splice_Site_p.262_263QG>H*|VMP1_ENST00000539763.1_Splice_Site_p.167_168QG>H*	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	359					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TATTTCTACAGGGAGAAAACTG	0.361																																						uc002ixu.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.e12-1		Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.																																				SO:0001630	splice_region_variant	81671				autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917128_57917129GG>TT		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	Exception_encountered	17.37:g.57917128_57917129delinsTT						VMP1_uc010wog.2_Splice_Site_p.G168_splice|VMP1_uc010woh.2_Splice_Site_p.G304_splice|VMP1_uc010woi.2_Splice_Site_p.G263_splice|VMP1_uc010woj.2_Splice_Site_p.G226_splice|MIR21_uc002ixv.3_5'Flank	p.G360_splice	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN			12	1351	+			360					B4DVV9|Q9H0P4|Q9P089	Splice_Site	DNP	ENST00000262291.4	37	c.1078_splice	CCDS11619.1																																																																																				0.361	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938	Nonsense_Mutation	9	289	0	0	0	1	0	9	289				
CAND1	55832	broad.mit.edu	37	12	67704013	67704013	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:67704013C>G	ENST00000545606.1	+	13	3714	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1093					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTACACACTTCTAGACAGTTG	0.343																																						uc001stn.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3277-3279)Cta>Gta		Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.							192.0	180.0	184.0					12																	67704013		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67704013C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3277C>G	12.37:g.67704013C>G	ENSP00000442318:p.Leu1093Val					CAND1_uc001sto.2_Missense_Mutation_p.L603V	p.L1093V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	12	3714	+			1093					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3277C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311316	0.60414	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.69806	-0.43;-0.43	5.43	1.5	0.22942	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.978;0.999	T	0.78352	-0.2237	9	.	.	.	-7.4441	9.7052	0.40211	0.0:0.6174:0.0:0.3825	.	925;1093	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	1093;1093;633	ENSP00000442318:L1093V;ENSP00000444089:L633V	.	L	+	1	2	CAND1	65990280	0.997000	0.39634	0.990000	0.47175	0.967000	0.64934	0.565000	0.23578	0.062000	0.16340	0.655000	0.94253	CTA		0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		3	59	0	0	0	1	0	3	59				
PFKP	5214	broad.mit.edu	37	10	3155654	3155654	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:3155654G>A	ENST00000381125.4	+	13	1391	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	PFKP_ENST00000381075.2_Missense_Mutation_p.D431N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	439	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGCATTGCCGACGGCCACAG	0.617																																						uc001igp.3																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1315-1317)Gac>Aac		Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.							47.0	42.0	44.0					10																	3155654		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3155654G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1315G>A	10.37:g.3155654G>A	ENSP00000370517:p.Asp439Asn					PFKP_uc001igq.3_Missense_Mutation_p.D431N|PFKP_uc009xhr.3_Missense_Mutation_p.D401N|PFKP_uc009xhs.1_Missense_Mutation_p.D223N|PFKP_uc009xht.3_Missense_Mutation_p.D177N|PFKP_uc009xhu.3_5'UTR	p.D439N	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	12	1391	+			439					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1315G>A	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.764|9.764	1.170990|1.170990	0.21621|0.21621	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005|ENST00000413079	T;T;T|.	0.79247|.	-1.25;-1.25;-1.25|.	5.16|5.16	2.3|2.3	0.28687|0.28687	Phosphofructokinase domain (2);|.	0.313724|.	0.37761|.	N|.	0.001946|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.00313|0.00313	-1.665|-1.665	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34200|.	0.014;0.014;0.441|.	B;B;B|.	0.33454|.	0.015;0.015;0.164|.	T|T	0.09997|0.09997	-1.0649|-1.0649	10|5	0.51188|.	T|.	0.08|.	.|.	10.6324|10.6324	0.45545|0.45545	0.2138:0.0:0.7862:0.0|0.2138:0.0:0.7862:0.0	.|.	431;431;439|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	N|Q	439;428;431;223|2	ENSP00000370517:D439N;ENSP00000370465:D431N;ENSP00000408858:D223N|.	ENSP00000370465:D431N|.	D|R	+|+	1|2	0|0	PFKP|PFKP	3145654|3145654	0.998000|0.998000	0.40836|0.40836	0.003000|0.003000	0.11579|0.11579	0.372000|0.372000	0.29890|0.29890	2.524000|2.524000	0.45589|0.45589	0.284000|0.284000	0.22305|0.22305	-0.150000|-0.150000	0.13652|0.13652	GAC|CGA		0.617	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	21	0	0	0	1	0	10	21				
DENND2D	79961	broad.mit.edu	37	1	111741363	111741363	+	Splice_Site	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:111741363C>G	ENST00000357640.4	-	3	474	c.245G>C	c.(244-246)cGg>cCg	p.R82P	DENND2D_ENST00000369752.5_Splice_Site_p.R79P|CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	82	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGGTTCTCCCGCTATAAGGC	0.552																																						uc001eak.1																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.e3-1		Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.							50.0	49.0	50.0					1																	111741363		2203	4300	6503	SO:0001630	splice_region_variant	79961							g.chr1:111741363C>G		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.244-1G>C	1.37:g.111741363C>G						DENND2D_uc001eal.1_Splice_Site_p.R79_splice	p.R82_splice	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	3	444	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	82			UDENN.		Q5T5V6|Q9BSU0	Splice_Site	SNP	ENST00000357640.4	37	c.244_splice	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989841	0.35131	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.46819	0.86;0.86	5.93	5.93	0.95920	uDENN (3);	0.125962	0.51477	D	0.000086	T	0.51109	0.1655	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69824	0.943;0.966	T	0.47045	-0.9147	10	0.41790	T	0.15	-17.2731	12.7496	0.57300	0.1638:0.8362:0.0:0.0	.	79;82	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	P	82;79	ENSP00000350266:R82P;ENSP00000358767:R79P	ENSP00000350266:R82P	R	-	2	0	DENND2D	111542886	0.967000	0.33354	0.993000	0.49108	0.638000	0.38207	3.153000	0.50685	2.826000	0.97356	0.655000	0.94253	CGG		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	Missense_Mutation	3	38	0	0	0	1	0	3	38				
ZNF577	84765	broad.mit.edu	37	19	52376484	52376484	+	Silent	SNP	C	C	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:52376484C>A	ENST00000301399.5	-	7	1124	c.759G>T	c.(757-759)cgG>cgT	p.R253R	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Silent_p.R194R|ZNF577_ENST00000451628.2_Silent_p.R194R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCGGCACTTCCGGCTGAAGG	0.498																																						uc010yde.2																			0		p.H253Y(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(757-759)cgG>cgT		Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.							67.0	62.0	64.0					19																	52376484		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376484C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.759G>T	19.37:g.52376484C>A						ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.R194R|ZNF577_uc002pxv.3_Silent_p.R246R|ZNF577_uc002pxw.3_Silent_p.R187R	p.R253R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1150	-		all_neural(266;0.0602)	253					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.759G>T	CCDS12842.2																																																																																				0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		12	29	0	0	0	1	0	12	29				
FBXO42	54455	broad.mit.edu	37	1	16577866	16577866	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:16577866G>C	ENST00000375592.3	-	10	1669	c.1453C>G	c.(1453-1455)Cga>Gga	p.R485G		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATCCTCGTCGGGGGGCCAAA	0.483																																						uc001ayg.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1453-1455)Cga>Gga		Homo sapiens F-box protein 42 (FBXO42), mRNA.							54.0	58.0	56.0					1																	16577866		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577866G>C	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1453C>G	1.37:g.16577866G>C	ENSP00000364742:p.Arg485Gly					FBXO42_uc001ayf.3_Missense_Mutation_p.R392G	p.R485G	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	9	1669	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1453C>G	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503513	0.26949	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56611	3.6;0.45;0.45	5.51	5.51	0.81932	.	0.226096	0.38326	N	0.001739	T	0.32941	0.0846	N	0.08118	0	0.52099	D	0.999945	B	0.09022	0.002	B	0.04013	0.001	T	0.12243	-1.0555	10	0.22109	T	0.4	-9.7159	15.2424	0.73480	0.0:0.0:0.8593:0.1407	.	485	Q6P3S6	FBX42_HUMAN	G	485;203;203	ENSP00000364742:R485G;ENSP00000415663:R203G;ENSP00000412416:R203G	ENSP00000364742:R485G	R	-	1	2	FBXO42	16450453	0.981000	0.34729	0.516000	0.27786	0.877000	0.50540	0.614000	0.24314	2.763000	0.94921	0.650000	0.86243	CGA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			4	71	0	0	0	1	0	4	71				
NUP133	55746	broad.mit.edu	37	1	229577762	229577763	+	Missense_Mutation	DNP	CG	CG	AT	rs374098845		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:229577762_229577763CG>AT	ENST00000261396.3	-	26	3450_3451	c.3359_3360CG>AT	c.(3358-3360)cCG>cAT	p.P1120H	RP5-1068B5.3_ENST00000434311.1_lincRNA|NUP133_ENST00000537506.1_Missense_Mutation_p.P1104H	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1120					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTTCACCTCCGGTAAGTACTC	0.351																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3358-3360)ccg>cAT		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.																																				SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577762_229577763CG>AT		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3359_3360delinsAT	1.37:g.229577762_229577763delinsAT	ENSP00000261396:p.Pro1120His						p.P1120H	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			25	3451_3452	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1120					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	DNP	ENST00000261396.3	37	c.3359_3360CG>AT	CCDS1579.1																																																																																				0.351	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		6	191	0	0	0	1	0	6	191				
TRIM5	85363	broad.mit.edu	37	11	5686237	5686237	+	Silent	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:5686237G>C	ENST00000380034.3	-	8	1540	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Silent_p.P428P|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	428	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCACAGAGAGGGGCACAATGA	0.418																																						uc001mbm.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1282-1284)ccC>ccG		Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.							100.0	96.0	98.0					11																	5686237		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686237G>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1284C>G	11.37:g.5686237G>C						TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	p.P428P	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	7	1587	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	428			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.1284C>G	CCDS31393.1																																																																																				0.418	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		3	70	0	0	0	1	0	3	70				
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:68201226G>C	ENST00000294304.7	+	18	4026	c.3920G>C	c.(3919-3921)cGg>cCg	p.R1307P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3919-3921)cGg>cCg		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							55.0	57.0	56.0					11																	68201226		2200	4292	6492	SO:0001583	missense	4041				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201226G>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3920G>C	11.37:g.68201226G>C	ENSP00000294304:p.Arg1307Pro					LRP5_uc009ysg.3_Missense_Mutation_p.R717P	p.R1307P	NM_002335	NP_002326	O75197	LRP5_HUMAN			17	3995	+			1307			LDL-receptor class A 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3920G>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760946	0.69763	.	.	ENSG00000162337	ENST00000294304	D	0.87650	-2.28	4.39	3.39	0.38822	.	0.179483	0.24836	U	0.035210	D	0.82728	0.5100	L	0.31578	0.945	0.38391	D	0.94539	P;P	0.43788	0.817;0.817	P;P	0.51806	0.68;0.68	T	0.82585	-0.0384	10	0.62326	D	0.03	.	3.5357	0.07793	0.3572:0.0:0.6428:0.0	.	1307;1307	Q9UES7;O75197	.;LRP5_HUMAN	P	1307	ENSP00000294304:R1307P	ENSP00000294304:R1307P	R	+	2	0	LRP5	67957802	0.981000	0.34729	0.996000	0.52242	0.976000	0.68499	2.361000	0.44160	2.298000	0.77334	0.456000	0.33151	CGG		0.711	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	43	0	0	0	1	0	3	43				
C1orf110	339512	broad.mit.edu	37	1	162824952	162824952	+	Missense_Mutation	SNP	G	G	C	rs150783672		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:162824952G>C	ENST00000367910.1	-	4	632	c.512C>G	c.(511-513)cCc>cGc	p.P171R	C1orf110_ENST00000367912.2_Missense_Mutation_p.P170R|C1orf110_ENST00000367911.2_Missense_Mutation_p.P166R|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCTTGCTGGGGTCTACGTC	0.468																																						uc001gck.2																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(511-513)cCc>cGc		Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.							275.0	262.0	266.0					1																	162824952		1935	4141	6076	SO:0001583	missense	339512							g.chr1:162824952G>C	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.512C>G	1.37:g.162824952G>C	ENSP00000356886:p.Pro171Arg					C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P170R	p.P171R	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			3	687	-			171					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.512C>G	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476208	0.12521	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	1.26	0.21427	.	0.713158	0.12734	N	0.443640	T	0.12944	0.0314	N	0.14661	0.345	0.21740	N	0.999568	B;B	0.21753	0.06;0.06	B;B	0.26517	0.07;0.07	T	0.11179	-1.0598	8	0.56958	D	0.05	0.04	6.55	0.22427	0.3143:0.0:0.6857:0.0	.	170;171	Q86UF4-2;Q86UF4	.;CA110_HUMAN	R	170;166;171	.	ENSP00000356886:P171R	P	-	2	0	C1orf110	161091576	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	0.853000	0.27777	0.151000	0.19162	-0.136000	0.14681	CCC		0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		4	220	0	0	0	1	0	4	220				
DYRK4	8798	broad.mit.edu	37	12	4708955	4708955	+	Splice_Site	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:4708955G>A	ENST00000540757.2	+	8	941		c.e8+1		DYRK4_ENST00000543431.1_Splice_Site|DYRK4_ENST00000010132.5_Splice_Site	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACCAGAAAGGTGAGCCCCAT	0.453																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e10+1		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							147.0	136.0	140.0					12																	4708955		2203	4300	6503	SO:0001630	splice_region_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708955G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.781+1G>A	12.37:g.4708955G>A						DYRK4_uc001qmx.3_Splice_Site_p.V261_splice|DYRK4_uc001qmy.2_Splice_Site_p.V261_splice|DYRK4_uc021qtq.1_Splice_Site_p.V115_splice	p.V376_splice	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		10	1168	+			261			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Splice_Site	SNP	ENST00000540757.2	37	c.1126_splice	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362186	0.61403	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5187	0.84308	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYRK4	4579216	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	7.036000	0.76524	2.443000	0.82685	0.561000	0.74099	.		0.453	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		Intron	18	62	0	0	0	1	0	18	62				
CDR2	1039	broad.mit.edu	37	16	22360757	22360757	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr16:22360757C>T	ENST00000268383.2	-	4	656	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	117						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAATCGTTTCAGTCAGGCTG	0.512																																						uc002dkn.3																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(349-351)Gaa>Aaa		Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.							99.0	103.0	101.0					16																	22360757		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22360757C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.349G>A	16.37:g.22360757C>T	ENSP00000268383:p.Glu117Lys						p.E117K	NM_001802	NP_001793	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	3	657	-			117					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.349G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482990	0.96307	.	.	ENSG00000140743	ENST00000268383	T	0.28895	1.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.47005	-0.9150	10	0.20046	T	0.44	-8.6816	19.7365	0.96208	0.0:1.0:0.0:0.0	.	117	Q01850	CDR2_HUMAN	K	117	ENSP00000268383:E117K	ENSP00000268383:E117K	E	-	1	0	CDR2	22268258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.157000	0.77461	2.672000	0.90937	0.655000	0.94253	GAA		0.512	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			10	142	0	0	0	1	0	10	142				
C19orf67	646457	broad.mit.edu	37	19	14199308	14199308	+	5'Flank	SNP	A	A	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:14199308A>G	ENST00000548523.1	-	0	0				C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.L407P	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GTAGATTTTCAGGGCTGGCCC	0.582																																						uc010xnl.2																			0				endometrium(3)	3						c.(1219-1221)cTg>cCg		Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.							63.0	70.0	68.0					19																	14199308		2046	4168	6214	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199308A>G		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199308A>G	Exception_encountered						p.L407P	NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1220	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	513						Missense_Mutation	SNP	ENST00000548523.1	37	c.1220T>C	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915250	0.52546	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.53640	0.61;0.61	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000004	T	0.74635	0.3742	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80730	-0.1252	10	0.87932	D	0	-15.8885	10.3127	0.43718	1.0:0.0:0.0:0.0	.	407	E9PIW9	.	P	407;107	ENSP00000431971:L407P;ENSP00000269724:L107P	ENSP00000269724:L107P	L	-	2	0	SAMD1	14060308	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	8.274000	0.89889	1.937000	0.56155	0.528000	0.53228	CTG		0.582	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	67	0	0	0	1	0	3	67				
KCNU1	157855	broad.mit.edu	37	8	36698048	36698048	+	Missense_Mutation	SNP	G	G	A	rs373537074		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:36698048G>A	ENST00000399881.3	+	15	1623	c.1586G>A	c.(1585-1587)cGt>cAt	p.R529H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	529					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGACCCAACGTCTCTCTGAT	0.403																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1585-1587)cGt>cAt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.		G	HIS/ARG	0,3800		0,0,1900	105.0	97.0	99.0		1586	2.8	1.0	8		99	1,8223		0,1,4111	no	missense	KCNU1	NM_001031836.2	29	0,1,6011	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	529/1150	36698048	1,12023	1900	4112	6012	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698048G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1586G>A	8.37:g.36698048G>A	ENSP00000382770:p.Arg529His					KCNU1_uc003xjw.2_Non-coding_Transcript	p.R529H	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	14	1673	+			529						Missense_Mutation	SNP	ENST00000399881.3	37	c.1586G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013324	0.07727	0.0	1.22E-4	ENSG00000215262	ENST00000399881	T	0.44083	0.93	5.84	2.82	0.32997	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.38272	U	0.001757	T	0.29491	0.0735	L	0.48362	1.52	0.09310	N	0.999999	B	0.34255	0.445	B	0.28465	0.09	T	0.16070	-1.0415	10	0.44086	T	0.13	-3.7911	6.5249	0.22295	0.1677:0.0:0.6768:0.1555	.	529	A8MYU2	KCNU1_HUMAN	H	529	ENSP00000382770:R529H	ENSP00000382770:R529H	R	+	2	0	KCNU1	36817206	0.004000	0.15560	0.980000	0.43619	0.022000	0.10575	0.337000	0.19841	0.839000	0.34971	-0.727000	0.03589	CGT		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	15	0	0	0	1	0	8	15				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	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						p.V600E	NM_004333	NP_004324	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		13	30	0	0	0	1	0	13	30				
REEP3	221035	broad.mit.edu	37	10	65379435	65379435	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:65379435G>C	ENST00000373758.4	+	7	769	c.586G>C	c.(586-588)Gac>Cac	p.D196H	REEP3_ENST00000298249.4_Missense_Mutation_p.D181H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	196					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCACTGAAAGACGGAGATGA	0.428																																						uc001jmt.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(586-588)Gac>Cac		Homo sapiens receptor accessory protein 3 (REEP3), mRNA.							53.0	53.0	53.0					10																	65379435		1899	4128	6027	SO:0001583	missense	221035					integral to membrane		g.chr10:65379435G>C	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.586G>C	10.37:g.65379435G>C	ENSP00000362863:p.Asp196His						p.D196H	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN			6	769	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		196					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.586G>C	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047544	0.36085	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.84070	-1.8;-1.8	5.2	5.2	0.72013	.	0.232667	0.42420	D	0.000711	T	0.74635	0.3742	L	0.38531	1.155	0.40452	D	0.980156	B	0.14012	0.009	B	0.12156	0.007	T	0.71652	-0.4528	10	0.56958	D	0.05	.	9.6199	0.39714	0.0917:0.0:0.9083:0.0	.	196	Q6NUK4	REEP3_HUMAN	H	196;181;198	ENSP00000362863:D196H;ENSP00000298249:D181H	ENSP00000298249:D181H	D	+	1	0	REEP3	65049441	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	2.669000	0.46825	2.691000	0.91804	0.655000	0.94253	GAC		0.428	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		3	15	0	0	0	1	0	3	15				
RTCA	8634	broad.mit.edu	37	1	100752669	100752669	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:100752669G>C	ENST00000370128.4	+	10	1078	c.909G>C	c.(907-909)atG>atC	p.M303I	RTCA_ENST00000260563.4_Missense_Mutation_p.M316I	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	303					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										TTGTTTTCATGGCATTAGCCA	0.338																																						uc001dtd.3																			0											c.(946-948)atG>atC		Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA.							82.0	80.0	81.0					1																	100752669		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding	g.chr1:100752669G>C	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.909G>C	1.37:g.100752669G>C	ENSP00000359146:p.Met303Ile					RTCA_uc001dtc.3_Missense_Mutation_p.M303I	p.M316I	NM_001130841	NP_001124313	O00442	RTC1_HUMAN			10	1166	+			303					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.948G>C	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592894	0.86953	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.77	5.77	0.91146	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77557	0.966;0.99	T	0.76222	-0.3038	9	0.52906	T	0.07	-27.851	18.1351	0.89616	0.0:0.0:1.0:0.0	.	316;303	O00442-2;O00442	.;RTC1_HUMAN	I	303;316	.	ENSP00000260563:M316I	M	+	3	0	RTCD1	100525257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.319000	0.79040	2.885000	0.99019	0.655000	0.94253	ATG		0.338	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			3	80	0	0	0	1	0	3	80				
GALNT2	2590	broad.mit.edu	37	1	230203102	230203102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:230203102delG	ENST00000366672.4	+	1	147	c.75delG	c.(73-75)tcgfs	p.S25fs	GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	25					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACATGTACTCGGGGGGCGGCT	0.771																																						uc010pwa.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(73-75)tcgfs		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.				2,3416		0,2,1707	5.0	5.0	5.0			3.7	1.0	1		5	12,6732		3,6,3363	no	frameshift	GALNT2	NM_004481.3		3,8,5070	A1A1,A1R,RR		0.1779,0.0585,0.1378			230203102	14,10148	1890	3735	5625	SO:0001589	frameshift_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230203102delG	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.75delG	1.37:g.230203102delG	ENSP00000355632:p.Ser25fs					GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript	p.S25fs	NM_004481	NP_004472	Q10471	GALT2_HUMAN			0	147	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	25					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Frame_Shift_Del	DEL	ENST00000366672.4	37	c.75delG	CCDS1582.1																																																																																				0.771	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		2	4						2	4	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124219784	124219784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:124219784delG	ENST00000518448.1	+	5	3175	c.1161delG	c.(1159-1161)ccgfs	p.P387fs	FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P387fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	387	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCTCTCCCCGCGGCCCCACG	0.766																																						uc003ypv.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1159-1161)ccgfs		Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.							3.0	4.0	4.0					8																	124219784		1532	3317	4849	SO:0001589	frameshift_variant	84985							g.chr8:124219784delG	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1161delG	8.37:g.124219784delG	ENSP00000428876:p.Pro387fs					FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Frame_Shift_Del_p.P387fs|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	p.P387fs	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	3175	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		387			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	ENST00000518448.1	37	c.1161delG	CCDS6340.1																																																																																				0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		2	4						2	4	---	---	---	---
