#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
PLXNA4	91584	broad.mit.edu	37	7	131910977	131910977	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:131910977G>A	ENST00000359827.3	-	8	2887	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I			Q9HCM2	PLXA4_HUMAN	plexin A4	642					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCATGCCGGTCTCCTTTGA	0.562																																						ENST00000359827.3											0			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1924-1926)aCc>aTc	plexin A4						154.0	155.0	154.0					7																	131910977		2026	4187	6213	SO:0001583	missense	91584				integral to membrane|intracellular|plasma membrane		g.chr7:131910977G>A	AB046770, AK123428	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	ENSG00000221866	ENSG00000221866		"""Plexins"""	"""Plexins"""	9102	9102	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604280	604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B				Standard	Standard	NM_181775	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	uc003vra.4	Q9HCM2	Q9HCM2	OTTHUMG00000155108	OTTHUMG00000155108	ENST00000359827.3:c.1925C>T	7.37:g.131910977G>A	ENSP00000352882:p.Thr642Ile		PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I	p.T642I			Q9HCM2	PLXA4_HUMAN			8	2887	-			642		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1925C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545095	0.65198	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01106	5.33;5.33	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	M	0.73962	2.25	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	T	0.05533	-1.0879	10	0.66056	D	0.02	.	18.9935	0.92803	0.0:0.0:1.0:0.0	.	642	Q9HCM2	PLXA4_HUMAN	I	642	ENSP00000323194:T642I;ENSP00000352882:T642I	ENSP00000323194:T642I	T	-	2	0	0	PLXNA4	131561517	131561517	1.000000	0.71417	0.981000	0.43875	0.099000	0.18886	9.786000	0.99046	2.675000	0.91044	0.591000	0.81541	ACC		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		203.707887	4	4	115	115	NM_181775		67	203.958256	203.958256	80	0.455782	0	0	0	1	0	67	80	0.455782
ILVBL	10994	broad.mit.edu	37	19	15230041	15230041	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:15230041G>T	ENST00000263383.3	-	9	1126	c.987C>A	c.(985-987)caC>caA	p.H329Q	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGTGGAGGGGGTGGTTGCGGC	0.642																																						ENST00000263383.3											0			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(985-987)caC>caA	ilvB (bacterial acetolactate synthase)-like						63.0	60.0	61.0					19																	15230041		2203	4300	6503	SO:0001583	missense	10994				integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230041G>T	U61263	U61263	CCDS12325.1	CCDS12325.1	19p13.1	2008-07-16			2008-07-16			ENSG00000105135	ENSG00000105135	ENSG00000105135	ENSG00000105135				6041	6041	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	"""acetolactate synthase homolog"""	605770	605770						8954801	8954801	Standard	Standard	NM_006844	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	uc002nam.3	A1L0T0	A1L0T0	OTTHUMG00000165630	OTTHUMG00000165630	ENST00000263383.3:c.987C>A	19.37:g.15230041G>T	ENSP00000263383:p.His329Gln		ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	p.H329Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			9	1126	-			329		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.987C>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041387	0.55003	.	.	ENSG00000105135	ENST00000263383	T	0.54279	0.58	5.31	4.27	0.50696	5.31	4.27	0.50696	Thiamine pyrophosphate enzyme, central domain (1);	0.230150	0.49305	D	0.000144	T	0.67050	0.2852	M	0.82193	2.58	0.39279	D	0.96453	P	0.37276	0.589	P	0.50896	0.653	T	0.73030	-0.4111	10	0.66056	D	0.02	-13.1706	10.9757	0.47465	0.0906:0.0:0.9094:0.0	.	329	A1L0T0	ILVBL_HUMAN	Q	329	ENSP00000263383:H329Q	ENSP00000263383:H329Q	H	-	3	2	2	ILVBL	15091041	15091041	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	1.600000	0.36762	2.484000	0.83849	0.561000	0.74099	CAC		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		-12.103562	13	13	107	107	NM_006844		5	9.375269	9.375269	95	0.050000	1	0	0.0293803	1	0.0293803	5	95	0.05
FAM217A	222826	broad.mit.edu	37	6	4069806	4069806	+	Missense_Mutation	SNP	G	G	C	rs149448787	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr6:4069806G>C	ENST00000274673.3	-	7	1054	c.651C>G	c.(649-651)agC>agG	p.S217R	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	217																	TTTTAAAATAGCTGAGTAAAG	0.343																																						ENST00000274673.3											0										c.(649-651)agC>agG	family with sequence similarity 217, member A						99.0	104.0	102.0					6																	4069806		2203	4300	6503	SO:0001583	missense	222826						g.chr6:4069806G>C	BC039349	BC039349	CCDS4489.1	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975	ENSG00000145975	ENSG00000145975				21362	21362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 6 open reading frame 146"""	C6orf146	"""chromosome 6 open reading frame 146"""	C6orf146				Standard	Standard	NM_173563	NM_173563		Approved	MGC43581	uc003mvx.3	uc003mvx.3	Q8IXS0	Q8IXS0	OTTHUMG00000014159	OTTHUMG00000014159	ENST00000274673.3:c.651C>G	6.37:g.4069806G>C	ENSP00000274673:p.Ser217Arg		FAM217A_ENST00000380188.2_5'UTR	p.S217R	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	1054	-			217		Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.651C>G	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248645	0.39797	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.34275	1.37	5.43	4.49	0.54785	5.43	4.49	0.54785	.	0.257887	0.38436	N	0.001683	T	0.33294	0.0858	M	0.75777	2.31	0.30307	N	0.788858	D	0.53462	0.96	P	0.50537	0.643	T	0.29305	-1.0016	10	0.87932	D	0	-6.389	8.229	0.31587	0.1072:0.0:0.8928:0.0	.	217	Q8IXS0	CF146_HUMAN	R	217;64;345	ENSP00000274673:S217R	ENSP00000274673:S217R	S	-	3	2	2	C6orf146	4014805	4014805	0.608000	0.26966	1.000000	0.80357	0.119000	0.20118	0.726000	0.25984	2.827000	0.97445	0.650000	0.86243	AGC		0.343	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2		80.600578	-8	-8	102	102	NM_173563		27	82.468848	82.468848	53	0.337500	0	0	0	1	0	27	53	0.3375
KCNH5	27133	broad.mit.edu	37	14	63417240	63417240	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr14:63417240C>T	ENST00000322893.7	-	7	1248	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	327					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R327L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCGTAAGAGACGCACCACTTT	0.448																																						ENST00000322893.7											1	Substitution - Missense(1)	lung(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(979-981)cGt>cAt	potassium voltage-gated channel, subfamily H (eag-related), member 5						60.0	61.0	60.0					14																	63417240		2203	4300	6503	SO:0001583	missense	27133			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63417240C>T	U69185	U69185	CCDS9756.1, CCDS45122.1	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			2012-07-05			ENSG00000140015	ENSG00000140015	ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	6254	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605716	605716						9738473, 16382104	9738473, 16382104	Standard	Standard	NM_139318	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	uc001xfx.3	Q8NCM2	Q8NCM2	OTTHUMG00000029041	OTTHUMG00000029041	ENST00000322893.7:c.980G>A	14.37:g.63417240C>T	ENSP00000321427:p.Arg327His		KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1248	-			327		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.980G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266527	0.95399	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24	5.79	5.79	0.91817	5.79	5.79	0.91817	Ion transport (1);	0.050743	0.85682	D	0.000000	D	0.99799	0.9914	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.997;0.995;0.999	D	0.97217	0.9875	10	0.87932	D	0	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	269;269;327;327	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	H	327;327;269;269	ENSP00000321427:R327H;ENSP00000395439:R327H;ENSP00000378419:R269H;ENSP00000378415:R269H	ENSP00000321427:R327H	R	-	2	0	0	KCNH5	62486993	62486993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.810000	0.86072	2.731000	0.93534	0.591000	0.81541	CGT		0.448	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		26.969662	-17	-17	31	31	NM_139318		12	31.786877	31.786877	47	0.203390	0	0	0	1	0	12	47	0.20339
HTR3E	285242	broad.mit.edu	37	3	183819281	183819281	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr3:183819281G>T	ENST00000415389.2	+	3	709	c.243G>T	c.(241-243)caG>caT	p.Q81H	HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	81					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGAATGAACAGCTGCACCTCT	0.418																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(241-243)caG>caT	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						223.0	214.0	217.0					3																	183819281		2203	4300	6503	SO:0001583	missense	285242				integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183819281G>T	AY159813	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038	ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	24005	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610123	610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""		"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	12801637, 15157181	Standard	Standard	NM_001256613	NM_001256613		Approved		uc010hxr.3	uc010hxr.3	A5X5Y0	A5X5Y0	OTTHUMG00000156857	OTTHUMG00000156857	ENST00000415389.2:c.243G>T	3.37:g.183819281G>T	ENSP00000401444:p.Gln81His		HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	p.Q81H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		3	709	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		81		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.243G>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	8.096	0.775515	0.16051	.	.	ENSG00000186038	ENST00000415389;ENST00000335304;ENST00000431041	T;T;T	0.79033	-1.23;-1.23;-1.23	3.8	-1.51	0.08664	3.8	-1.51	0.08664	Neurotransmitter-gated ion-channel ligand-binding (3);	0.185501	0.34025	N	0.004327	T	0.71500	0.3347	M	0.82517	2.595	0.28030	N	0.93417	B;B	0.21225	0.053;0.007	B;B	0.18871	0.023;0.015	T	0.63005	-0.6733	10	0.62326	D	0.03	.	3.0518	0.06172	0.3796:0.0:0.3084:0.312	.	81;96	A5X5Y0;A5X5Y0-3	5HT3E_HUMAN;.	H	81;96;10	ENSP00000401444:Q81H;ENSP00000335511:Q96H;ENSP00000391254:Q10H	ENSP00000335511:Q96H	Q	+	3	2	2	HTR3E	185301975	185301975	0.562000	0.26586	0.061000	0.19648	0.730000	0.41778	0.502000	0.22594	-0.501000	0.06605	-0.136000	0.14681	CAG		0.418	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1		96.399957	-3	-3	123	123	NM_182589		32	96.875081	96.875081	45	0.415584	1	0	3.67414e-24	1	3.79266e-24	32	45	0.415584
GRID1	2894	broad.mit.edu	37	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr10:87362425G>A	ENST00000327946.7	-	16	2720	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879					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						CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)																												ENST00000327946.7											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.(2635-2637)Cgc>Tgc	glutamate receptor, ionotropic, delta 1						45.0	38.0	40.0					10																	87362425		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.chr10:87362425G>A	AB033046	AB033046	CCDS31236.1	CCDS31236.1	10q22	2012-08-29			2012-08-29			ENSG00000182771	ENSG00000182771	ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	4575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610659	610659								Standard	Standard	NM_017551	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	uc001kdl.1	Q9ULK0	Q9ULK0	OTTHUMG00000018650	OTTHUMG00000018650	ENST00000327946.7:c.2635C>T	10.37:g.87362425G>A	ENSP00000330148:p.Arg879Cys		GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C	p.R879C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2720	-			879		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2635C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633451	0.87660	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.17691	2.51;2.26	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41511	0.1162	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.10497	-1.0627	10	0.87932	D	0	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	C	879;450	ENSP00000330148:R879C;ENSP00000444455:R450C	ENSP00000330148:R879C	R	-	1	0	0	GRID1	87352405	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		16.946799	-1	-1	17	17	XM_043613		6	17.077932	17.077932	9	0.400000	0	0	0	1	0	6	9	0.4
ASPM	259266	broad.mit.edu	37	1	197111536	197111536	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111536T>G	ENST00000367409.4	-	3	2102	c.1846A>C	c.(1846-1848)Aaa>Caa	p.K616Q	ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	616					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTTGTTTTCTTAACAGCT	0.348																																						ENST00000367409.4											0			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1846-1848)Aaa>Caa	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						196.0	208.0	204.0					1																	197111536		2203	4300	6503	SO:0001583	missense	259266			mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111536T>G	AY367065	AY367065	CCDS1389.1, CCDS55672.1	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	ENSG00000066279	ENSG00000066279				19048	19048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605481	605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	11078481	Standard	Standard	NM_018136	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	uc001gtu.3	Q8IZT6	Q8IZT6	OTTHUMG00000036277	OTTHUMG00000036277	ENST00000367409.4:c.1846A>C	1.37:g.197111536T>G	ENSP00000356379:p.Lys616Gln		ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	2102	-			616		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1846A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972515	0.34848	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.52	5.12	3.98	0.46160	5.12	3.98	0.46160	.	0.426506	0.23171	N	0.051126	T	0.44808	0.1311	L	0.46157	1.445	0.09310	N	1	P;B	0.37015	0.578;0.327	B;B	0.31337	0.128;0.045	T	0.23976	-1.0173	10	0.23891	T	0.37	.	10.5922	0.45316	0.0:0.0:0.1619:0.8381	.	616;616	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	616	ENSP00000356379:K616Q;ENSP00000294732:K616Q	ENSP00000294732:K616Q	K	-	1	0	0	ASPM	195378159	195378159	0.014000	0.17966	0.002000	0.10522	0.021000	0.10359	1.418000	0.34782	1.052000	0.40392	0.523000	0.50628	AAA		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		270.278130	-2	-2	185	185	NM_018136		81	270.300148	270.300148	77	0.512658	0	0	0	1	0	81	77	0.512658
OGFOD2	79676	broad.mit.edu	37	12	123461285	123461285	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:123461285G>A	ENST00000228922.7	+	3	306	c.274G>A	c.(274-276)Gca>Aca	p.A92T	OGFOD2_ENST00000538628.1_5'UTR|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|ABCB9_ENST00000542678.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000397389.2_Missense_Mutation_p.A32T|OGFOD2_ENST00000536150.1_5'UTR|ABCB9_ENST00000392439.3_5'Flank|OGFOD2_ENST00000454694.2_5'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CTACCACCCGGCACGGCCTGA	0.652																																						ENST00000397389.2											0			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(94-96)Gca>Aca	2-oxoglutarate and iron-dependent oxygenase domain containing 2						38.0	48.0	45.0					12																	123461285		2191	4287	6478	SO:0001583	missense	79676					iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123461285G>A	AK094820	AK094820	CCDS41855.1	CCDS41855.1	12q24.31	2010-11-23			2010-11-23			ENSG00000111325	ENSG00000111325	ENSG00000111325	ENSG00000111325				25823	25823	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024623	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	uc001udz.1	Q6N063	Q6N063			ENST00000228922.7:c.274G>A	12.37:g.123461285G>A	ENSP00000228922:p.Ala92Thr		ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.A92T|OGFOD2_ENST00000545317.1_5'UTR	p.A32T	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	4	833	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		92		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	G	15.82	2.944933	0.53079	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85955	-2.05;-2.05	5.67	2.69	0.31865	5.67	2.69	0.31865	.	0.519558	0.22682	N	0.056940	D	0.84220	0.5424	L	0.54323	1.7	0.09310	N	1	D;B;P	0.60575	0.988;0.145;0.493	P;B;B	0.56343	0.796;0.053;0.124	T	0.73294	-0.4028	10	0.39692	T	0.17	-2.0736	2.9565	0.05878	0.0931:0.2688:0.3622:0.2759	.	73;92;32	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	T	32;92;165	ENSP00000380544:A32T;ENSP00000228922:A92T	ENSP00000228922:A92T	A	+	1	0	0	OGFOD2	122027238	122027238	0.012000	0.17670	0.001000	0.08648	0.001000	0.01503	1.997000	0.40786	0.715000	0.32103	-0.188000	0.12872	GCA		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1		0.997975	-27	-27	18	18	NM_024623		3	6.826659	6.826659	31	0.088235	0	0	0	1	0	3	31	0.088235
STRIP2	57464	broad.mit.edu	37	7	129125472	129125472	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:129125472C>T	ENST00000249344.2	+	21	2347	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	769					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCTTGAGGGCCAACATTGAGG	0.502																																						ENST00000249344.2											0										c.(2305-2307)gcC>gcT	striatin interacting protein 2						98.0	89.0	92.0					7																	129125472		2203	4300	6503	SO:0001819	synonymous_variant	57464						g.chr7:129125472C>T	AB032996	AB032996	CCDS34752.1, CCDS47709.1	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578	ENSG00000128578	ENSG00000128578				22209	22209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""	"""FAR11 factor arrest 11 homolog B (yeast)"""			"""family with sequence similarity 40, member B"""	FAM40B	"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	22782902, 22298706, 18782753	Standard	Standard	NM_020704	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	uc011koy.2	Q9ULQ0	Q9ULQ0	OTTHUMG00000157695	OTTHUMG00000157695	ENST00000249344.2:c.2307C>T	7.37:g.129125472C>T				p.A769A	NM_020704.2	NP_065755.1					21	2347	+					Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.2307C>T	CCDS34752.1																																																																																									0.502	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1		36.151427	-3	-3	60	60	NM_001134336		16	43.259334	43.259334	66	0.195122	0	0	0	1	0	16	66	0.195122
RNF25	64320	broad.mit.edu	37	2	219529520	219529520	+	Missense_Mutation	SNP	C	C	G	rs147462219		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr2:219529520C>G	ENST00000295704.2	-	9	1183	c.743G>C	c.(742-744)cGg>cCg	p.R248P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	248					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTCCCCCCCGCTCCTGCTG	0.577																																						ENST00000295704.2											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(742-744)cGg>cCg	ring finger protein 25						93.0	86.0	88.0					2																	219529520		2203	4300	6503	SO:0001583	missense	64320			positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529520C>G			CCDS2420.1	CCDS2420.1	2q35	2008-02-05			2008-02-05			ENSG00000163481	ENSG00000163481	ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	14662	14662	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12748188	12748188	Standard	Standard	NM_022453	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	uc002vit.3	Q96BH1	Q96BH1	OTTHUMG00000133077	OTTHUMG00000133077	ENST00000295704.2:c.743G>C	2.37:g.219529520C>G	ENSP00000295704:p.Arg248Pro			p.R248P	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1183	-		Renal(207;0.0474)	248		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.743G>C	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450842	0.43531	.	.	ENSG00000163481	ENST00000295704	T	0.50548	0.74	5.94	3.18	0.36537	5.94	3.18	0.36537	.	0.393729	0.24134	N	0.041239	T	0.42921	0.1224	M	0.65975	2.015	0.19945	N	0.999945	P	0.43857	0.819	B	0.39503	0.301	T	0.41431	-0.9509	10	0.87932	D	0	-16.137	7.1976	0.25862	0.0:0.5944:0.0:0.4056	.	248	Q96BH1	RNF25_HUMAN	P	248	ENSP00000295704:R248P	ENSP00000295704:R248P	R	-	2	0	0	RNF25	219237764	219237764	0.064000	0.20934	0.318000	0.25279	0.792000	0.44763	1.769000	0.38522	0.415000	0.25817	0.561000	0.74099	CGG		0.577	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		46.124053	-6	-6	47	47	NM_022453		18	48.567205	48.567205	44	0.290323	0	0	0	1	0	18	44	0.290323
ATG2A	23130	broad.mit.edu	37	11	64677225	64677225	+	Missense_Mutation	SNP	G	G	A	rs533644989		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr11:64677225G>A	ENST00000377264.3	-	14	2147	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R679W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	679					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R679R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCTCTGACCGGAACTGGGGC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14019	0.0		0.0	False		,,,				2504	0.001					ENST00000421419.2											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2035-2037)Cgg>Tgg	autophagy related 2A						34.0	38.0	37.0					11																	64677225		2201	4297	6498	SO:0001583	missense	23130					protein binding	g.chr11:64677225G>A			CCDS31602.1	CCDS31602.1	11q13.1	2014-02-12	2012-06-06		2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046	ENSG00000110046	ENSG00000110046				29028	29028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""		"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	21887408	Standard	Standard	NM_015104	NM_015104		Approved	KIAA0404	uc001obx.3	uc001obx.3	Q2TAZ0	Q2TAZ0	OTTHUMG00000066831	OTTHUMG00000066831	ENST00000377264.3:c.2035C>T	11.37:g.64677225G>A	ENSP00000366475:p.Arg679Trp		ATG2A_ENST00000377264.3_Missense_Mutation_p.R679W	p.R679W			Q2TAZ0	ATG2A_HUMAN			14	2149	-			679		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2035C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109091|4.109091	0.77096|0.77096	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07567	.|3.18;3.18	4.28|4.28	3.35|3.35	0.38373|0.38373	4.28|4.28	3.35|3.35	0.38373|0.38373	.|.	.|0.071334	.|0.56097	.|D	.|0.000032	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.44542|0.44542	1.39|1.39	0.41839|0.41839	D|D	0.990114|0.990114	.|D	.|0.76494	.|0.999	.|P	.|0.60415	.|0.874	T|T	0.00958|0.00958	-1.1500|-1.1500	5|10	.|0.87932	.|D	.|0	.|.	9.6199|9.6199	0.39714|0.39714	0.0:0.0:0.7916:0.2084|0.0:0.0:0.7916:0.2084	.|.	.|679	.|Q2TAZ0	.|ATG2A_HUMAN	L|W	480|679	.|ENSP00000410522:R679W;ENSP00000366475:R679W	.|ENSP00000366475:R679W	P|R	-|-	2|1	0|2	0|2	ATG2A|ATG2A	64433801|64433801	64433801|64433801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.644000|1.644000	0.37228|0.37228	1.133000|1.133000	0.42147|0.42147	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		-2.512283	-19	-19	32	32	NM_015104		3	6.788511	6.788511	44	0.063830	0	0	0	1	0	3	44	0.06383
ASPM	259266	broad.mit.edu	37	1	197111537	197111537	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111537C>T	ENST00000367409.4	-	3	2101	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	ASPM_ENST00000294732.7_Silent_p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	615					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTGTTTTCTTAACAGCTG	0.348																																						ENST00000367409.4											0			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1843-1845)aaG>aaA	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						195.0	207.0	203.0					1																	197111537		2203	4300	6503	SO:0001819	synonymous_variant	259266			mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111537C>T	AY367065	AY367065	CCDS1389.1, CCDS55672.1	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	ENSG00000066279	ENSG00000066279				19048	19048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605481	605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	11078481	Standard	Standard	NM_018136	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	uc001gtu.3	Q8IZT6	Q8IZT6	OTTHUMG00000036277	OTTHUMG00000036277	ENST00000367409.4:c.1845G>A	1.37:g.197111537C>T			ASPM_ENST00000294732.7_Silent_p.K615K	p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	2101	-			615		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.1845G>A	CCDS1389.1																																																																																									0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		254.472651	-5	-5	184	184	NM_018136		81	254.478027	254.478027	79	0.506250	0	0	0	1	0	81	79	0.50625
ASIC1	41	broad.mit.edu	37	12	50453720	50453720	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:50453720G>A	ENST00000447966.2	+	3	770	c.541G>A	c.(541-543)Gct>Act	p.A181T	ASIC1_ENST00000228468.4_Missense_Mutation_p.A181T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	181					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGTCTGCAGCGCTGAAGACTT	0.617																																						ENST00000228468.4											0										c.(541-543)Gct>Act	acid-sensing (proton-gated) ion channel 1						58.0	52.0	54.0					12																	50453720		2203	4300	6503	SO:0001583	missense	41			calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50453720G>A	U78181	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602866	602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	9037075	Standard	Standard	NM_001095	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	uc001rvv.4	P78348	P78348	OTTHUMG00000169812	OTTHUMG00000169812	ENST00000447966.2:c.541G>A	12.37:g.50453720G>A	ENSP00000400228:p.Ala181Thr		ASIC1_ENST00000447966.2_Missense_Mutation_p.A181T	p.A181T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			3	926	+			181		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.541G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362688	0.61403	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64260	-0.09;-0.09	4.92	3.95	0.45737	4.92	3.95	0.45737	.	0.288112	0.31370	N	0.007780	T	0.62974	0.2472	M	0.73598	2.24	0.80722	D	1	B;B	0.28470	0.032;0.213	B;B	0.32624	0.149;0.045	T	0.62407	-0.6861	10	0.31617	T	0.26	-6.7734	14.1973	0.65679	0.0:0.2276:0.7724:0.0	.	181;181	P78348;P78348-1	ACCN2_HUMAN;.	T	181	ENSP00000228468:A181T;ENSP00000400228:A181T	ENSP00000228468:A181T	A	+	1	0	0	ACCN2	48739987	48739987	0.985000	0.35326	0.982000	0.44146	0.974000	0.67602	3.237000	0.51344	2.674000	0.91012	0.655000	0.94253	GCT		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		50.738745	5	5	45	45	NM_020039		15	53.179815	53.179815	2	0.882353	0	0	0	1	0	15	2	0.882353
GAB1	2549	broad.mit.edu	37	4	144336795	144336795	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr4:144336795G>A	ENST00000262994.4	+	2	540	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GAB1_ENST00000262995.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	80	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAAAGAGTTTGAAAACAGCTA	0.333																																						ENST00000262995.4											0			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(238-240)Gaa>Aaa	GRB2-associated binding protein 1						95.0	93.0	94.0					4																	144336795		2203	4300	6503	SO:0001583	missense	2549			cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144336795G>A	U43885	U43885	CCDS3759.1, CCDS3760.1	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			2013-01-10			ENSG00000109458	ENSG00000109458	ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	4066	4066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604439	604439						8596638	8596638	Standard	Standard	NM_207123	NM_207123		Approved		uc003ijd.3	uc003ijd.3	Q13480	Q13480	OTTHUMG00000161432	OTTHUMG00000161432	ENST00000262994.4:c.238G>A	4.37:g.144336795G>A	ENSP00000262994:p.Glu80Lys		GAB1_ENST00000262994.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	p.E80K	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			2	665	+	all_hematologic(180;0.158)		80	PH.	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.238G>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314249	0.95655	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000509992	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.07	6.07	0.98685	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	N	0.17564	0.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	T	0.72054	-0.4406	10	0.18276	T	0.48	2.1267	20.6593	0.99626	0.0:0.0:1.0:0.0	.	80;80	Q13480;Q13480-2	GAB1_HUMAN;.	K	80;80;80;59	ENSP00000262995:E80K;ENSP00000262994:E80K;ENSP00000427435:E80K;ENSP00000425921:E59K	ENSP00000262994:E80K	E	+	1	0	0	GAB1	144556245	144556245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.885000	0.99019	0.655000	0.94253	GAA		0.333	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1		38.066128	-7	-7	51	51	NM_002039		13	38.479112	38.479112	21	0.382353	0	0	0	1	0	13	21	0.382353
ABR	29	broad.mit.edu	37	17	960239	960239	+	Splice_Site	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr17:960239G>A	ENST00000302538.5	-	13	1631	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	ABR_ENST00000544583.2_Splice_Site_p.D449D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Splice_Site_p.D449D|ABR_ENST00000291107.2_Splice_Site_p.D458D	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	495	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGAGCTTACCGTCTTTATTGC	0.562																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1345-1347)gaC>gaT	active BCR-related						162.0	149.0	154.0					17																	960239		2203	4300	6503	SO:0001630	splice_region_variant	29			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:960239G>A	L19704	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842	ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	81	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600365	600365	"""active BCR-related gene"""		"""active BCR-related gene"""			2587217, 7479768	2587217, 7479768	Standard	Standard	NM_001092	NM_001092		Approved	MDB	uc002fsd.4	uc002fsd.4	Q12979	Q12979	OTTHUMG00000090313	OTTHUMG00000090313	ENST00000302538.5:c.1486+1C>T	17.37:g.960239G>A			ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Splice_Site_p.D458D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000302538.5_Splice_Site_p.D495D|ABR_ENST00000574437.1_Splice_Site_p.D449D	p.D449D	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	13	1946	-			495	PH.	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Splice_Site	SNP	ENST00000302538.5	37	c.1347C>T	CCDS10999.1																																																																																									0.562	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		260.159126	-17	-17	187	187		Silent	85	261.457598	261.457598	120	0.414634	0	0	0	1	0	85	120	0.414634
ARPC1B	10095	broad.mit.edu	37	7	98985821	98985821	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:98985821A>G	ENST00000451682.1	+	6	638	c.329A>G	c.(328-330)aAg>aGg	p.K110R	ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	110					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACGAGAACAAGTTTGCTGTG	0.617																																						ENST00000451682.1											0			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(328-330)aAg>aGg	actin related protein 2/3 complex, subunit 1B, 41kDa						65.0	61.0	62.0					7																	98985821		2203	4300	6503	SO:0001583	missense	10095			cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98985821A>G	AF006084	AF006084	CCDS5661.1	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429	ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	704	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""		"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	9230079, 9359840	Standard	Standard	NM_005720	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	uc003upz.3	O15143	O15143	OTTHUMG00000154552	OTTHUMG00000154552	ENST00000451682.1:c.329A>G	7.37:g.98985821A>G	ENSP00000389631:p.Lys110Arg		ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R	p.K110R			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	638	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		110		Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.329A>G	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	a	32	5.142707	0.94560	.	.	ENSG00000130429	ENST00000252725;ENST00000455009;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.39	5.39	0.77823	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.83953	2.67	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72338	0.977;0.977	T	0.82339	-0.0506	9	.	.	.	-37.2075	15.357	0.74434	1.0:0.0:0.0:0.0	.	110;110	A4D275;O15143	.;ARC1B_HUMAN	R	110	ENSP00000252725:K110R;ENSP00000410238:K110R;ENSP00000403324:K110R;ENSP00000398110:K110R;ENSP00000403211:K110R;ENSP00000388802:K110R;ENSP00000389631:K110R	.	K	+	2	0	0	ARPC1B	98823757	98823757	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.311000	0.96282	2.172000	0.68678	0.454000	0.30748	AAG		0.617	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1		71.984906	10	10	51	51	NM_005720		24	72.67769	72.677690	38	0.387097	0	0	0	1	0	24	38	0.387097
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3											0			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg	cysteinyl leukotriene receptor 2						209.0	201.0	204.0					13																	49281339		2203	4300	6503	SO:0001583	missense	57105			immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	AB038269	CCDS9412.1	CCDS9412.1	13q14.2	2012-08-10			2012-08-10			ENSG00000152207	ENSG00000152207	ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	"""GPCR / Class A : Leukotriene receptors"""	18274	18274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605666	605666						10913337, 1085123	10913337, 1085123	Standard	Standard	NM_020377	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	uc001vck.2	Q9NS75	Q9NS75	OTTHUMG00000016906	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln			p.L129Q	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	0	CYSLTR2	48179340	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		105.722833	4	4	157	157			40	115.521345	115.521345	124	0.243902	0	0	0	1	0	40	124	0.243902
ERCC2	2068	broad.mit.edu	37	19	45855905	45855905	+	Silent	SNP	C	C	T	rs145835916	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:45855905C>T	ENST00000391945.4	-	21	1982	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	ERCC2_ENST00000391944.3_Silent_p.A557A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	635	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATTCCAGCCGCGCCTGCAGAT	0.597			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1903-1905)gcG>gcA	excision repair cross-complementing rodent repair deficiency, complementation group 2	C		0,4406		0,0,2203	36.0	36.0	36.0		1905	-11.5	0.0	19	dbSNP_134	36	8,8590	5.7+/-21.5	0,8,4291	no	coding-synonymous	ERCC2	NM_000400.3		0,8,6494	TT,TC,CC		0.093,0.0,0.0615		635/761	45855905	8,12996	2203	4299	6502	SO:0001819	synonymous_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855905C>T			CCDS33049.1, CCDS46112.1	CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	"""General transcription factor IIH complex subunits"""	3434	3434	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	8413672, 2184031	Standard	Standard	NM_000400	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	uc002pbj.2	P18074	P18074	OTTHUMG00000048190	OTTHUMG00000048190	ENST00000391945.4:c.1905G>A	19.37:g.45855905C>T			ERCC2_ENST00000391944.3_Silent_p.A557A	p.A635A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	1982	-		Ovarian(192;0.0728)|all_neural(266;0.112)	635	Mediates interaction with MMS19.	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1905G>A	CCDS33049.1																																																																																									0.597	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		15.506481	-13	-13	38	38	NM_000400		7	18.233456	18.233456	27	0.205882	0	0	0	1	0	7	27	0.205882
