#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
SRRT	51593	broad.mit.edu	37	7	100482086	100482086	+	Missense_Mutation	SNP	G	G	C	rs376597506		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:100482086G>C	ENST00000347433.4	+	7	1013	c.855G>C	c.(853-855)aaG>aaC	p.K285N	SRRT_ENST00000388793.4_Missense_Mutation_p.K285N|SRRT_ENST00000432932.1_Missense_Mutation_p.K285N|SRRT_ENST00000457580.2_Missense_Mutation_p.K285N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	285	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAGCAAGAAAGAAGAAG	0.592																																						uc003uwy.2																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(853-855)aaG>aaC		Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.							43.0	44.0	44.0					7																	100482086		2202	4299	6501	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482086G>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.855G>C	7.37:g.100482086G>C	ENSP00000314491:p.Lys285Asn					SRRT_uc010lhl.1_Missense_Mutation_p.K285N|SRRT_uc003uxa.2_Missense_Mutation_p.K285N|SRRT_uc003uwz.2_Missense_Mutation_p.K285N	p.K285N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			6	1122	+			285			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.855G>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270016	0.23221	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T	0.17213	2.29;2.29	4.06	3.17	0.36434	.	0.062949	0.64402	D	0.000012	T	0.08088	0.0202	N	0.17082	0.46	0.53688	D	0.999972	P;P;P;B	0.36535	0.557;0.557;0.557;0.421	B;B;B;B	0.32864	0.154;0.154;0.154;0.074	T	0.21930	-1.0231	10	0.25751	T	0.34	.	7.0025	0.24817	0.1227:0.0:0.8773:0.0	.	285;285;285;285	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	285	ENSP00000416553:K285N;ENSP00000314491:K285N	ENSP00000314491:K285N	K	+	3	2	SRRT	100320022	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	1.936000	0.40183	2.281000	0.76405	0.491000	0.48974	AAG		0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		3	32	0	0	0	1	0	3	32				
BPIFB2	80341	broad.mit.edu	37	20	31600702	31600702	+	Silent	SNP	C	C	T	rs540459199		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:31600702C>T	ENST00000170150.3	+	4	492	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	99						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.F99L(1)									ATTTTACTTTCAAGGTCTTTC	0.557																																						uc002wyj.3																			1	Substitution - Missense(1)	p.F99L(1)	ovary(1)								c.(295-297)ttC>ttT		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.							118.0	114.0	115.0					20																	31600702		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31600702C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.297C>T	20.37:g.31600702C>T							p.F99F	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			3	491	+			99					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.297C>T	CCDS13210.1																																																																																				0.557	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	178	0	0	0	1	0	6	178				
C16orf86	388284	broad.mit.edu	37	16	67701334	67701334	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:67701334C>G	ENST00000403458.4	+	2	393	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000602974.1_Intron|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	80										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAGGAGCGGCCCAAGCCGCA	0.667																																						uc002ety.3																			0				endometrium(2)|lung(4)	6						c.(238-240)Ccc>Gcc		Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.							11.0	15.0	14.0					16																	67701334		2152	4249	6401	SO:0001583	missense	388284							g.chr16:67701334C>G		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.238C>G	16.37:g.67701334C>G	ENSP00000384117:p.Pro80Ala					C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	p.P80A	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	395	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	80					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.238C>G	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841270	0.32513	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.15	0.741	0.18336	.	.	.	.	.	T	0.25005	0.0607	N	0.14661	0.345	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.19321	-1.0309	8	0.44086	T	0.13	-2.0092	9.5134	0.39091	0.148:0.4284:0.4236:0.0	.	80	Q6ZW13	CP086_HUMAN	A	80	.	ENSP00000384117:P80A	P	+	1	0	C16orf86	66258835	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	1.019000	0.30014	0.025000	0.15241	0.563000	0.77884	CCC		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		3	19	0	0	0	1	0	3	19				
ZNF83	55769	broad.mit.edu	37	19	53116715	53116715	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:53116715G>A	ENST00000597597.1	-	2	3356	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.A340V|ZNF83_ENST00000301096.3_Missense_Mutation_p.A368V|ZNF83_ENST00000536937.1_Missense_Mutation_p.A368V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.A368V|ZNF83_ENST00000544146.1_Missense_Mutation_p.A368V|ZNF83_ENST00000541777.2_Missense_Mutation_p.A368V|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	368					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)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403																																						uc002pzu.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1102-1104)gCc>gTc		Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.							118.0	116.0	117.0					19																	53116715		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116715G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1103C>T	19.37:g.53116715G>A	ENSP00000472619:p.Ala368Val					ZNF83_uc002pzv.4_Missense_Mutation_p.A368V|ZNF83_uc010eps.3_Missense_Mutation_p.A340V|ZNF83_uc010ept.3_Missense_Mutation_p.A368V|ZNF83_uc010epu.3_Missense_Mutation_p.A368V|ZNF83_uc010epw.3_Missense_Mutation_p.A368V|ZNF83_uc010epv.3_Missense_Mutation_p.A368V|ZNF83_uc010epx.3_Missense_Mutation_p.A340V|ZNF83_uc010epy.3_Missense_Mutation_p.A368V|ZNF83_uc010epz.3_Missense_Mutation_p.A340V|ZNF83_uc010eqb.2_Missense_Mutation_p.A340V|ZNF83_uc021uyx.1_Missense_Mutation_p.A368V	p.A368V	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	1	2347	-			368					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1103C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	12.30	1.897477	0.33535	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	2.13	-0.5	0.12012	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.16567	0.415	0.20489	N	0.999896	B;B	0.21225	0.002;0.053	B;B	0.30716	0.003;0.119	T	0.38222	-0.9671	9	0.72032	D	0.01	.	5.3611	0.16087	0.1346:0.2072:0.6582:0.0	.	340;368	P51522-2;P51522	.;ZNF83_HUMAN	V	368;368;368;340;368;368;340	ENSP00000445993:A368V;ENSP00000301096:A368V;ENSP00000445470:A368V;ENSP00000440713:A368V;ENSP00000439681:A368V;ENSP00000375666:A340V	ENSP00000301096:A368V	A	-	2	0	ZNF83	57808527	0.979000	0.34478	0.002000	0.10522	0.003000	0.03518	2.061000	0.41403	-0.199000	0.10317	0.313000	0.20887	GCC		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	182	0	0	0	1	0	4	182				
AJUBA	84962	broad.mit.edu	37	14	23445885	23445885	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:23445885T>C	ENST00000262713.2	-	3	1520	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Missense_Mutation_p.N382S	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	382	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CACAGAGCCATTGACACTGTA	0.512																																						uc001whz.3																			0											c.(1144-1146)aAt>aGt		Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.							153.0	139.0	144.0					14																	23445885		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445885T>C	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1145A>G	14.37:g.23445885T>C	ENSP00000262713:p.Asn382Ser					AJUBA_uc001why.3_5'UTR	p.N382S	NM_032876	NP_116265	Q96IF1	JUB_HUMAN			2	1518	-			382			LIM zinc-binding 1.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1145A>G	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682069	0.68042	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.87966	-2.32;-2.32	5.74	5.74	0.90152	Zinc finger, LIM-type (4);	0.060878	0.64402	D	0.000008	D	0.86234	0.5884	L	0.42744	1.35	0.52501	D	0.99995	B	0.30021	0.265	B	0.40009	0.316	D	0.85399	0.1130	10	0.56958	D	0.05	.	13.9942	0.64386	0.0:0.0:0.0:1.0	.	382	Q96IF1	JUB_HUMAN	S	382	ENSP00000262713:N382S;ENSP00000354491:N382S	ENSP00000262713:N382S	N	-	2	0	JUB	22515725	1.000000	0.71417	0.953000	0.39169	0.901000	0.52897	5.556000	0.67307	2.192000	0.70111	0.533000	0.62120	AAT		0.512	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			3	139	0	0	0	1	0	3	139				
TRPC4	7223	broad.mit.edu	37	13	38357319	38357319	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr13:38357319G>T	ENST00000379705.3	-	2	1009	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	TRPC4_ENST00000338947.5_Missense_Mutation_p.S51Y|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000426868.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	51					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388																																						uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(151-153)tCc>tAc		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							150.0	153.0	152.0					13																	38357319		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357319G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.152C>A	13.37:g.38357319G>T	ENSP00000369027:p.Ser51Tyr					TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51Y|TRPC4_uc001uws.3_Missense_Mutation_p.S51Y|TRPC4_uc010tey.2_Missense_Mutation_p.S51Y|TRPC4_uc010abw.3_Missense_Mutation_p.S51Y|TRPC4_uc010aby.3_Missense_Mutation_p.S51Y	p.S51Y	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	1	387	-			51					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.152C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019526	0.54576	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.145327	0.64402	D	0.000010	T	0.54498	0.1862	N	0.11427	0.14	0.51233	D	0.99991	B;B;P;P;B;B	0.47191	0.27;0.288;0.891;0.891;0.27;0.316	B;B;P;P;B;B	0.48141	0.185;0.189;0.568;0.568;0.345;0.255	T	0.54410	-0.8298	10	0.32370	T	0.25	-14.1765	20.5211	0.99222	0.0:0.0:1.0:0.0	.	51;51;51;51;51;51	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	51	ENSP00000369027:S51Y;ENSP00000369003:S51Y;ENSP00000342580:S51Y;ENSP00000369001:S51Y;ENSP00000410133:S51Y;ENSP00000348025:S51Y;ENSP00000351264:S51Y;ENSP00000368995:S51Y;ENSP00000414316:S51Y	ENSP00000342580:S51Y	S	-	2	0	TRPC4	37255319	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		6	229	0	0	0	1	0	6	229				
CCM2	83605	broad.mit.edu	37	7	45067320	45067320	+	Intron	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:45067320G>A	ENST00000258781.6	+	2	179				CCM2_ENST00000461377.1_Intron|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.R6Q|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000475551.1_5'UTR|CCM2_ENST00000474617.1_5'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGCTGTCGGCAGAGGAGG	0.433																																						uc003tms.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(16-18)cGg>cAg		Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.							83.0	88.0	86.0					7																	45067320		2203	4300	6503	SO:0001627	intron_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45067320G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10532G>A	7.37:g.45067320G>A						CCM2_uc003tmn.3_Intron|CCM2_uc003tmo.3_Intron|CCM2_uc003tmp.3_Intron|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.R6Q|CCM2_uc011kcc.2_Missense_Mutation_p.R6Q	p.R6Q	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN			0	88	+			0					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.17G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	6.664	0.490964	0.12702	.	.	ENSG00000136280	ENST00000381112	T	0.47869	0.83	3.87	-4.0	0.04057	.	.	.	.	.	T	0.26738	0.0654	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.20140	-1.0284	9	0.87932	D	0	0.0651	2.9908	0.05982	0.5413:0.1277:0.2015:0.1295	.	6;6;6	B7Z5A6;B7Z8D5;E9PDJ3	.;.;.	Q	6	ENSP00000370503:R6Q	ENSP00000370503:R6Q	R	+	2	0	CCM2	45033845	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.916000	0.04029	-1.015000	0.03375	-0.808000	0.03180	CGG		0.433	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		16	67	0	0	0	1	0	16	67				
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	rs148336562	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20001	0.0		0.0	False		,,,				2504	0.0					uc001jpf.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)Gcc>Acc		Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.							143.0	152.0	149.0					10																	71010063		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71010063G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1588G>A	10.37:g.71010063G>A	ENSP00000346643:p.Ala530Thr					HKDC1_uc010qje.2_Missense_Mutation_p.A393T	p.A530T	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			10	1721	+			530					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1588G>A	CCDS7288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	25.7	4.660770	0.88154	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99527	-6.09;-6.09	5.2	5.2	0.72013	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.90922	3.16	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	D	0.97962	1.0338	10	0.87932	D	0	-24.7869	18.9131	0.92493	0.0:0.0:1.0:0.0	.	530	Q2TB90	HKDC1_HUMAN	T	530	ENSP00000346643:A530T;ENSP00000378521:A530T	ENSP00000346643:A530T	A	+	1	0	HKDC1	70680069	1.000000	0.71417	0.965000	0.40720	0.855000	0.48748	5.575000	0.67430	2.704000	0.92352	0.561000	0.74099	GCC		0.547	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		10	277	0	0	0	1	0	10	277				
ALKBH1	8846	broad.mit.edu	37	14	78142152	78142152	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:78142152A>G	ENST00000216489.3	-	5	602	c.587T>C	c.(586-588)cTg>cCg	p.L196P		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	196					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGGAAACCCAGGTCAGAAGG	0.448																																						uc001xuc.1																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(586-588)cTg>cCg		Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.							92.0	93.0	93.0					14																	78142152		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142152A>G	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.587T>C	14.37:g.78142152A>G	ENSP00000216489:p.Leu196Pro						p.L196P	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	4	596	-			196					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.587T>C	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673531	0.88445	.	.	ENSG00000100601	ENST00000216489	T	0.19669	2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64993	-0.6276	10	0.87932	D	0	-22.3694	16.8222	0.85835	1.0:0.0:0.0:0.0	.	196	Q13686	ALKB1_HUMAN	P	196	ENSP00000216489:L196P	ENSP00000216489:L196P	L	-	2	0	ALKBH1	77211905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.371000	0.80710	0.533000	0.62120	CTG		0.448	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		3	91	0	0	0	1	0	3	91				
NFIC	4782	broad.mit.edu	37	19	3452590	3452590	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:3452590C>T	ENST00000443272.2	+	8	1246	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	NFIC_ENST00000395111.3_Missense_Mutation_p.H390Y|NFIC_ENST00000590282.1_Missense_Mutation_p.H399Y|NFIC_ENST00000341919.3_Missense_Mutation_p.H399Y|NFIC_ENST00000586919.1_Missense_Mutation_p.H366Y|NFIC_ENST00000589123.1_Missense_Mutation_p.H390Y|NFIC_ENST00000346156.5_Missense_Mutation_p.H366Y	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	399					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTACCCACCTCATCTCAACCC	0.657																																						uc010xhi.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1195-1197)Cat>Tat		Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.							169.0	146.0	154.0					19																	3452590		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452590C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1195C>T	19.37:g.3452590C>T	ENSP00000396843:p.His399Tyr					NFIC_uc002lxo.3_Missense_Mutation_p.H390Y|NFIC_uc010xhh.2_Missense_Mutation_p.H390Y|NFIC_uc010xhj.2_Missense_Mutation_p.H399Y|NFIC_uc002lxp.3_Missense_Mutation_p.H399Y	p.H399Y	NM_001245002	NP_001231931	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	7	1265	+		Hepatocellular(1079;0.137)	399					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1195C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393707	0.83011	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.52754	0.65;0.65;0.65	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.70595	2.14	0.49582	D	0.999808	D;D;D;D;D	0.69078	0.997;0.997;0.996;0.996;0.996	D;D;D;D;D	0.79108	0.992;0.992;0.986;0.986;0.986	T	0.70281	-0.4915	10	0.52906	T	0.07	.	15.0657	0.71992	0.0:1.0:0.0:0.0	.	399;399;390;399;390	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	Y	390;390;366;399;399;399	ENSP00000378543:H390Y;ENSP00000301935:H366Y;ENSP00000342194:H399Y	ENSP00000269778:H399Y	H	+	1	0	NFIC	3403590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	1.874000	0.54306	0.555000	0.69702	CAT		0.657	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		6	253	0	0	0	1	0	6	253				
NLRP5	126206	broad.mit.edu	37	19	56561809	56561809	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:56561809G>A	ENST00000390649.3	+	12	2983	c.2983G>A	c.(2983-2985)Gct>Act	p.A995T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	995					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGACACGGCTGGCTGTGG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2983-2985)Gct>Act		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							97.0	103.0	101.0					19																	56561809		2083	4219	6302	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56561809G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2983G>A	19.37:g.56561809G>A	ENSP00000375063:p.Ala995Thr					NLRP5_uc002qmi.3_Missense_Mutation_p.A976T	p.A995T	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2983	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	995					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2983G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274448	0.05679	.	.	ENSG00000171487	ENST00000390649	T	0.54071	0.59	3.63	-1.61	0.08399	.	0.996923	0.08117	N	0.995308	T	0.44095	0.1277	L	0.56340	1.77	0.09310	N	1	B	0.27882	0.192	B	0.33690	0.168	T	0.39961	-0.9588	10	0.12766	T	0.61	.	6.8671	0.24100	0.5779:0.0:0.4221:0.0	.	995	P59047	NALP5_HUMAN	T	995	ENSP00000375063:A995T	ENSP00000375063:A995T	A	+	1	0	NLRP5	61253621	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.668000	0.25127	-0.213000	0.10094	-0.145000	0.13849	GCT		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	48	0	0	0	1	0	3	48				
FNDC7	163479	broad.mit.edu	37	1	109268557	109268557	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:109268557T>G	ENST00000370017.3	+	6	1319	c.1042T>G	c.(1042-1044)Ttt>Gtt	p.F348V	FNDC7_ENST00000271311.2_Missense_Mutation_p.F349V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	348	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTCACTTATTTTATTAGTGT	0.398																																						uc001dvx.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1042-1044)Ttt>Gtt		Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.							171.0	165.0	167.0					1																	109268557		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109268557T>G		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1042T>G	1.37:g.109268557T>G	ENSP00000359034:p.Phe348Val					FNDC7_uc010ova.2_Missense_Mutation_p.F115V	p.F348V	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	5	1042	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	349			Fibronectin type-III 4.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1042T>G	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.779563|3.779563	0.70107|0.70107	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.22743	.|1.94;1.94	6.05|6.05	6.05|6.05	0.98169|0.98169	.|Fibronectin, type III (3);	0.151005|0.151005	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.21347|0.21347	0.0514|0.0514	L|L	0.51422|0.51422	1.61|1.61	0.48632|0.48632	D|D	0.999686|0.999686	.|P;D	.|0.57899	.|0.656;0.981	.|B;P	.|0.53313	.|0.358;0.723	T|T	0.01127|0.01127	-1.1443|-1.1443	6|10	.|0.26408	.|T	.|0.33	-21.9382|-21.9382	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|349;348	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	C|V	123|348;349	.|ENSP00000359034:F348V;ENSP00000271311:F349V	.|ENSP00000271311:F349V	F|F	+|+	2|1	0|0	FNDC7|FNDC7	109070080|109070080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	3.422000|3.422000	0.52749|0.52749	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.398	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		9	198	0	0	0	1	0	9	198				
ACSM2A	123876	broad.mit.edu	37	16	20491997	20491997	+	Missense_Mutation	SNP	G	G	A	rs141811117	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:20491997G>A	ENST00000573854.1	+	11	1498	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	ACSM2A_ENST00000575690.1_Missense_Mutation_p.A462T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A234T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A462T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A383T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A462T|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	462					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TATGGGACGGGCAAATGATAT	0.498																																						uc010bwe.3																			0		p.R461R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1384-1386)Gca>Aca		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							17.0	40.0	32.0					16																	20491997		2101	4117	6218	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491997G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1384G>A	16.37:g.20491997G>A	ENSP00000459451:p.Ala462Thr					ACSM2A_uc010vax.1_Missense_Mutation_p.A383T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A462T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A462T|ACSM2A_uc010vay.2_Missense_Mutation_p.A383T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A92T	p.A462T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			11	1623	+			462					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1384G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	4.949	0.176243	0.09443	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.16	-4.79	0.03200	AMP-dependent synthetase/ligase (1);	1.872860	0.03641	N	0.239446	T	0.29288	0.0729	L	0.39633	1.23	0.20764	N	0.99986	B;B	0.19817	0.022;0.039	B;B	0.20577	0.03;0.02	T	0.09662	-1.0664	10	0.28530	T	0.3	1.768	3.5519	0.07850	0.3498:0.0:0.2574:0.3928	.	383;462	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	383;462;234;462	ENSP00000392169:A383T;ENSP00000219054:A462T;ENSP00000445082:A234T;ENSP00000379411:A462T	ENSP00000219054:A462T	A	+	1	0	ACSM2A	20399498	0.000000	0.05858	0.065000	0.19835	0.574000	0.36063	-0.978000	0.03778	-1.362000	0.02166	0.289000	0.19496	GCA		0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	160	0	0	0	1	0	4	160				
FAM83D	81610	broad.mit.edu	37	20	37576551	37576551	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:37576551C>G	ENST00000217429.4	+	3	815	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	228					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAAATATCTACTATGCAA	0.428																																						uc002xjg.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(772-774)atC>atG		Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.							136.0	129.0	131.0					20																	37576551		1933	4136	6069	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576551C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.774C>G	20.37:g.37576551C>G	ENSP00000217429:p.Ile258Met						p.I258M	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			2	815	+		Myeloproliferative disorder(115;0.00878)	228					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.774C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489753	0.64074	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11385	2.78	6.16	0.143	0.14820	.	0.250072	0.43747	D	0.000523	T	0.11965	0.0291	L	0.40543	1.245	0.30569	N	0.763719	P	0.47545	0.897	P	0.51657	0.676	T	0.07673	-1.0760	10	0.48119	T	0.1	.	4.9509	0.14013	0.3933:0.3351:0.0:0.2716	.	228	Q9H4H8	FA83D_HUMAN	M	258;212	ENSP00000217429:I258M	ENSP00000217429:I258M	I	+	3	3	FAM83D	37009965	0.001000	0.12720	0.997000	0.53966	0.990000	0.78478	-0.785000	0.04628	0.141000	0.18875	0.650000	0.86243	ATC		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			5	161	0	0	0	1	0	5	161				
BRDT	676	broad.mit.edu	37	1	92430277	92430277	+	Missense_Mutation	SNP	G	G	C	rs200845876		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:92430277G>C	ENST00000362005.3	+	4	704	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Missense_Mutation_p.E96Q|BRDT_ENST00000370389.2_Missense_Mutation_p.E23Q|BRDT_ENST00000399546.2_Missense_Mutation_p.E96Q	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	96	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAATGTATAGAAGACTTCAA	0.289																																						uc010osz.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(286-288)Gaa>Caa		Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 4, mRNA.							36.0	38.0	38.0					1																	92430277		2190	4276	6466	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430277G>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.286G>C	1.37:g.92430277G>C	ENSP00000354568:p.Glu96Gln					BRDT_uc001dol.4_Missense_Mutation_p.E96Q|BRDT_uc001dok.4_Missense_Mutation_p.E96Q|BRDT_uc009wdf.3_Missense_Mutation_p.E23Q|BRDT_uc010otb.2_Intron|BRDT_uc010ota.2_Intron|BRDT_uc001dom.4_Missense_Mutation_p.E96Q	p.E96Q	NM_001242806	NP_001229735	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	2	635	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	96			Bromo 1.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.286G>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421849	0.11928	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;3.14;1.47;1.47;1.47	5.43	4.52	0.55395	Bromodomain (6);Bromodomain, conserved site (1);	0.335067	0.28809	N	0.014067	T	0.05135	0.0137	N	0.04162	-0.26	0.80722	D	1	B;P	0.44044	0.051;0.825	B;B	0.43536	0.025;0.423	T	0.10683	-1.0619	10	0.02654	T	1	-11.5966	9.6595	0.39947	0.0754:0.1408:0.7838:0.0	.	96;96	B7Z890;Q58F21	.;BRDT_HUMAN	Q	96;23;96;96;96;96;96;96;96;96;96;23;96	ENSP00000354568:E96Q;ENSP00000359416:E23Q;ENSP00000387822:E96Q;ENSP00000396351:E96Q;ENSP00000416714:E96Q;ENSP00000400002:E96Q;ENSP00000410587:E96Q;ENSP00000404969:E96Q;ENSP00000414349:E96Q;ENSP00000447394:E96Q;ENSP00000446599:E23Q;ENSP00000384051:E96Q	ENSP00000354568:E96Q	E	+	1	0	BRDT	92202865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.191000	0.50981	1.316000	0.45131	0.650000	0.86243	GAA		0.289	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	77	0	0	0	1	0	4	77				
AMZ1	155185	broad.mit.edu	37	7	2740235	2740235	+	Silent	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:2740235G>A	ENST00000312371.4	+	2	518	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_ENST00000407112.1_Silent_p.P50P	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	50							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTACAACCCGCAGAGGACGC	0.662																																						uc003smr.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(148-150)ccG>ccA		Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.							111.0	119.0	116.0					7																	2740235		2203	4300	6503	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740235G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.150G>A	7.37:g.2740235G>A						AMZ1_uc003sms.1_Silent_p.P50P|AMZ1_uc011jwa.1_5'Flank	p.P50P	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	1	511	+		Ovarian(82;0.0779)	50					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.150G>A	CCDS34589.1																																																																																				0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	253	0	0	0	1	0	7	253				
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	rs377669879		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.001					uc001kdl.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2128-2130)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257.0	236.0	243.0		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R281W|AX746544_uc001kdm.1_Non-coding_Transcript	p.R710W	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			12	2229	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	434	0	0	0	1	0	6	434				
SRCAP	10847	broad.mit.edu	37	16	30715587	30715587	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:30715587G>A	ENST00000262518.4	+	4	642	c.257G>A	c.(256-258)gGc>gAc	p.G86D	SRCAP_ENST00000344771.4_Missense_Mutation_p.G86D|SRCAP_ENST00000395059.2_Missense_Mutation_p.G86D|RNU6-1043P_ENST00000410355.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	86					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAACAAGGGCCCGAAGTGG	0.537																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(256-258)gGc>gAc		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							102.0	102.0	102.0					16																	30715587		1904	4123	6027	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715587G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.257G>A	16.37:g.30715587G>A	ENSP00000262518:p.Gly86Asp					SRCAP_uc021tgn.1_Missense_Mutation_p.G86D|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_5'Flank	p.G86D	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		3	642	+			86					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.257G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982400	0.34942	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.76316	-1.01;-1.01;-1.01	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000089	T	0.60753	0.2293	N	0.08118	0	0.40749	D	0.982902	P	0.37015	0.578	B	0.36186	0.219	T	0.64980	-0.6279	10	0.33940	T	0.23	-2.5736	15.7294	0.77790	0.0:0.0:1.0:0.0	.	86	Q6ZRS2	SRCAP_HUMAN	D	86	ENSP00000262518:G86D;ENSP00000378499:G86D;ENSP00000343042:G86D	ENSP00000262518:G86D	G	+	2	0	SRCAP	30623088	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	2.689000	0.46993	2.582000	0.87167	0.650000	0.86243	GGC		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	203	0	0	0	1	0	9	203				
MYO1E	4643	broad.mit.edu	37	15	59510196	59510196	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr15:59510196C>T	ENST00000288235.4	-	10	1400	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	334	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCGGATTTGCCTCCCCACTT	0.527																																						uc002aga.3																			0		p.G333R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1000-1002)gGc>gAc		Homo sapiens myosin IE (MYO1E), mRNA.							187.0	169.0	175.0					15																	59510196		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	g.chr15:59510196C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1001G>A	15.37:g.59510196C>T	ENSP00000288235:p.Gly334Asp						p.G334D	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	9	1373	-			334			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1001G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937233	0.73557	.	.	ENSG00000157483	ENST00000288235	D	0.87412	-2.25	4.69	4.69	0.59074	Myosin head, motor domain (2);	0.205050	0.52532	D	0.000065	D	0.94006	0.8080	M	0.91406	3.205	0.54753	D	0.999989	P	0.37158	0.585	P	0.52386	0.697	D	0.94914	0.8067	10	0.66056	D	0.02	.	17.8209	0.88650	0.0:1.0:0.0:0.0	.	334	Q12965	MYO1E_HUMAN	D	334	ENSP00000288235:G334D	ENSP00000288235:G334D	G	-	2	0	MYO1E	57297488	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	3.744000	0.55112	2.437000	0.82529	0.462000	0.41574	GGC		0.527	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	194	0	0	0	1	0	8	194				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	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		34	54	0	0	0	1	0	34	54				
FAM110C	642273	broad.mit.edu	37	2	45588	45589	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45588_45589GC>CA	ENST00000327669.4	-	1	796_797	c.797_798GC>TG	c.(796-798)gGC>gTG	p.G266V	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	266					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CCTCGTCGTCGCCGCCGCTGTG	0.663																																						uc010yim.2																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(796-798)ggc>gTG		Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.																																				SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45588_45589GC>CA	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.797_798delinsCA	2.37:g.45588_45589delinsCA	ENSP00000328347:p.Gly266Val						p.G266V	NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	0	1000_1001	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	266						Missense_Mutation	DNP	ENST00000327669.4	37	c.797_798GC>TG	CCDS42645.1																																																																																				0.663	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		3	7	0	0	0	1	0	3	7				
GANAB	23193	broad.mit.edu	37	11	62396401	62396401	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr11:62396401G>A	ENST00000356638.3	-	17	2036	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	GANAB_ENST00000534779.1_Missense_Mutation_p.R582W|GANAB_ENST00000346178.4_Missense_Mutation_p.R696W|GANAB_ENST00000540933.1_Missense_Mutation_p.R577W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	674					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCATGTGCCCGGAAGAATGGC	0.542																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2086-2088)Cgg>Tgg		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							132.0	128.0	129.0					11																	62396401		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396401G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2020C>T	11.37:g.62396401G>A	ENSP00000349053:p.Arg674Trp					GANAB_uc001nub.3_Missense_Mutation_p.R674W|GANAB_uc001nuc.3_Missense_Mutation_p.R577W|GANAB_uc010rma.2_Missense_Mutation_p.R582W|GANAB_uc010rmb.2_Missense_Mutation_p.R560W	p.R696W	NM_198335	NP_938149	Q14697	GANAB_HUMAN			17	2119	-			674					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2086C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304526	0.60305	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	3.02	0.34903	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.998	D;D;D;D	0.72625	0.978;0.967;0.978;0.962	D	0.98391	1.0563	10	0.87932	D	0	-16.0623	11.782	0.52020	0.0:0.0:0.6153:0.3847	.	560;582;674;696	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	696;674;582;577	ENSP00000340466:R696W;ENSP00000349053:R674W;ENSP00000435306:R582W;ENSP00000442962:R577W	ENSP00000340466:R696W	R	-	1	2	GANAB	62152977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.232000	0.43018	1.252000	0.44001	0.655000	0.94253	CGG		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		4	225	0	0	0	1	0	4	225				
CACFD1	11094	broad.mit.edu	37	9	136333684	136333684	+	Splice_Site	DEL	G	G	-			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr9:136333684delG	ENST00000316948.4	+	5	508		c.e5-1		CACFD1_ENST00000542192.1_Splice_Site|SLC2A6_ENST00000485978.1_5'Flank|CACFD1_ENST00000291722.7_Splice_Site|CACFD1_ENST00000540581.1_Splice_Site	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1						synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										TCTCTCCCCAGGGGCGATGCG	0.667																																						uc011mdh.1																			0											c.e6-1		Homo sapiens chromosome 9 open reading frame 7 (C9orf7), transcript variant 3, mRNA.							30.0	32.0	31.0					9																	136333684		2198	4287	6485	SO:0001630	splice_region_variant	11094					integral to membrane		g.chr9:136333684delG		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"""chromosome 9 open reading frame 7"""	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.429-1G>-	9.37:g.136333684delG						CACFD1_uc011mdg.1_Splice_Site_p.K143_splice|CACFD1_uc011mdi.1_Splice_Site_p.G143_splice|CACFD1_uc004cec.2_Splice_Site_p.K101_splice|CACFD1_uc010nan.2_Splice_Site	p.G185_splice	NM_001242369	NP_001229298	Q9UGQ2	FLOWR_HUMAN			6	656	+			0					B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Splice_Site	DEL	ENST00000316948.4	37	c.554_splice	CCDS6974.1																																																																																				0.667	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586	Intron	2	4						2	4	---	---	---	---
