#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
RABGAP1	23637	broad.mit.edu	37	9	125832650	125832650	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:125832650G>A	ENST00000373647.4	+	15	2064	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	RABGAP1_ENST00000373643.5_5'UTR|RABGAP1_ENST00000493854.1_3'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	644	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTATGATGAAGAGATTGGTTA	0.438																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1930-1932)Gag>Aag		RAB GTPase activating protein 1							288.0	261.0	270.0					9																	125832650		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125832650G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1930G>A	9.37:g.125832650G>A	ENSP00000362751:p.Glu644Lys					RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	p.E644K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			15	2064	+			644			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1930G>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	36	5.780392	0.96929	.	.	ENSG00000011454	ENST00000373647	T	0.04862	3.54	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.26593	0.0650	M	0.75150	2.29	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	T	0.00326	-1.1815	10	0.87932	D	0	-20.0138	19.6408	0.95757	0.0:0.0:1.0:0.0	.	644	Q9Y3P9	RBGP1_HUMAN	K	644	ENSP00000362751:E644K	ENSP00000362751:E644K	E	+	1	0	RABGAP1	124872471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.641000	0.89580	0.563000	0.77884	GAG		0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		5	101	0	0	0	1	0	5	101				
ABAT	18	broad.mit.edu	37	16	8875180	8875180	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr16:8875180G>A	ENST00000396600.2	+	16	2334	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	ABAT_ENST00000425191.2_Missense_Mutation_p.G466S|ABAT_ENST00000268251.8_Missense_Mutation_p.G466S|ABAT_ENST00000567812.1_Missense_Mutation_p.G481S|ABAT_ENST00000569156.1_Silent_p.V485V|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	466					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGTTGGGTGGCTGTGGTGA	0.527																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1396-1398)Ggc>Agc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						208.0	163.0	178.0					16																	8875180		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8875180G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1396G>A	16.37:g.8875180G>A	ENSP00000379845:p.Gly466Ser					ABAT_ENST00000268251.8_Missense_Mutation_p.G466S|ABAT_ENST00000569156.1_Silent_p.V485V|ABAT_ENST00000567812.1_Missense_Mutation_p.G481S|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000425191.2_Missense_Mutation_p.G466S	p.G466S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			16	2334	+			466					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1396G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309852	0.81247	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75821	-0.97;-0.97;-0.97	5.12	5.12	0.69794	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.119578	0.56097	D	0.000031	T	0.74061	0.3667	L	0.49778	1.585	0.80722	D	1	P	0.42871	0.792	B	0.43838	0.433	T	0.76716	-0.2857	10	0.52906	T	0.07	-2.5373	17.5535	0.87884	0.0:0.0:1.0:0.0	.	466	P80404	GABT_HUMAN	S	466	ENSP00000268251:G466S;ENSP00000379845:G466S;ENSP00000411916:G466S	ENSP00000268251:G466S	G	+	1	0	ABAT	8782681	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.707000	0.84623	2.375000	0.81037	0.549000	0.68633	GGC		0.527	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		6	84	0	0	0	1	0	6	84				
CYP17A1	1586	broad.mit.edu	37	10	104596873	104596873	+	Silent	SNP	G	G	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:104596873G>T	ENST00000369887.3	-	1	417	c.246C>A	c.(244-246)gcC>gcA	p.A82A	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	82					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCACCTCCTTGGCCAGCTGGT	0.532																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(244-246)gcC>gcA		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						107.0	91.0	96.0					10																	104596873		2203	4300	6503	SO:0001819	synonymous_variant	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104596873G>T	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.246C>A	10.37:g.104596873G>T						CYP17A1_ENST00000489268.1_5'UTR	p.A82A	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	417	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	82					Q5TZV7	Silent	SNP	ENST00000369887.3	37	c.246C>A	CCDS7541.1																																																																																				0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		23	59	1	0	2.89027e-11	1	3.37198e-11	23	59				
SPINK5	11005	broad.mit.edu	37	5	147480098	147480098	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:147480098G>C	ENST00000256084.7	+	13	1216	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.D392H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D392H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	392	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGGAAAGT	0.483																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1174-1176)Gat>Cat		serine peptidase inhibitor, Kazal type 5							152.0	151.0	151.0					5																	147480098		1972	4176	6148	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147480098G>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1174G>C	5.37:g.147480098G>C	ENSP00000256084:p.Asp392His					SPINK5_ENST00000256084.7_Missense_Mutation_p.D392H|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.D392H	p.D392H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1247	+			392			Kazal-like 6.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1174G>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146477	0.57044	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.38492	N	0.001678	T	0.41834	0.1176	M	0.86343	2.81	0.34331	D	0.687647	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	T	0.60642	-0.7223	10	0.87932	D	0	-17.1773	13.3235	0.60447	0.0:0.0:1.0:0.0	.	373;392;392;392	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	392;392;373;392	ENSP00000381472:D392H;ENSP00000352936:D392H;ENSP00000421519:D373H;ENSP00000256084:D392H	ENSP00000256084:D392H	D	+	1	0	SPINK5	147460291	0.999000	0.42202	0.973000	0.42090	0.494000	0.33585	4.186000	0.58337	2.612000	0.88384	0.591000	0.81541	GAT		0.483	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		7	52	0	0	0	1	0	7	52				
CRB1	23418	broad.mit.edu	37	1	197391022	197391022	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr1:197391022C>G	ENST00000367400.3	+	6	2199	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	CRB1_ENST00000367397.1_Missense_Mutation_p.I69M|CRB1_ENST00000544212.1_Missense_Mutation_p.I169M|CRB1_ENST00000538660.1_Missense_Mutation_p.I688M|CRB1_ENST00000367399.2_Missense_Mutation_p.I576M|CRB1_ENST00000535699.1_Missense_Mutation_p.I619M|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	688	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACGCTGCATCAACTTGTGGC	0.512																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(205-207)atC>atG		crumbs homolog 1 (Drosophila)							77.0	76.0	76.0					1																	197391022		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197391022C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2064C>G	1.37:g.197391022C>G	ENSP00000356370:p.Ile688Met					CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.I688M|CRB1_ENST00000367399.2_Missense_Mutation_p.I576M|CRB1_ENST00000367400.3_Missense_Mutation_p.I688M|CRB1_ENST00000544212.1_Missense_Mutation_p.I169M|CRB1_ENST00000535699.1_Missense_Mutation_p.I619M	p.I69M			P82279	CRUM1_HUMAN			2	1065	+			688					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.207C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495573	0.26774	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;T	0.80304	-0.22;-1.36;-0.22;-1.36;-1.36;-1.36	5.65	3.73	0.42828	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84826	0.5558	L	0.56769	1.78	0.33940	D	0.643168	P;P;D;B;P	0.61080	0.889;0.775;0.989;0.167;0.845	P;P;P;B;P	0.59546	0.597;0.515;0.859;0.085;0.626	D	0.87790	0.2618	9	0.48119	T	0.1	.	12.6397	0.56702	0.1322:0.7408:0.1269:0.0	.	688;619;576;337;688	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	M	619;688;688;576;169;69;337	ENSP00000438786:I619M;ENSP00000438091:I688M;ENSP00000356370:I688M;ENSP00000356369:I576M;ENSP00000444556:I169M;ENSP00000356367:I69M	ENSP00000356367:I69M	I	+	3	3	CRB1	195657645	1.000000	0.71417	0.494000	0.27515	0.003000	0.03518	2.017000	0.40981	0.690000	0.31570	-0.188000	0.12872	ATC		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		9	60	0	0	0	1	0	9	60				
CUL3	8452	broad.mit.edu	37	2	225362566	225362566	+	Splice_Site	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:225362566C>A	ENST00000264414.4	-	12	1949	c.1611G>T	c.(1609-1611)agG>agT	p.R537S	CUL3_ENST00000409096.1_Splice_Site_p.R513S|CUL3_ENST00000344951.4_Splice_Site_p.R471S|CUL3_ENST00000409777.1_Splice_Site_p.R513S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	537					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.e12-1		cullin 3							119.0	111.0	114.0					2																	225362566		2203	4300	6503	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362566C>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1611-1G>T	2.37:g.225362566C>A						CUL3_ENST00000409096.1_Splice_Site_p.R513_splice|CUL3_ENST00000344951.4_Splice_Site_p.R471_splice|CUL3_ENST00000409777.1_Splice_Site_p.R513_splice	p.R537_splice	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	1949	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	537					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.1610_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598958	0.13939	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.16	5.28	0.74379	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.31420	0.93	0.80722	D	1	B;B;B	0.15141	0.012;0.003;0.003	B;B;B	0.15484	0.008;0.007;0.013	T	0.44050	-0.9353	10	0.07813	T	0.8	.	9.4501	0.38721	0.0:0.8484:0.0:0.1516	.	471;515;537	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	S	537;471;513;513	ENSP00000264414:R537S;ENSP00000343601:R471S;ENSP00000387200:R513S;ENSP00000386525:R513S	ENSP00000264414:R537S	R	-	3	2	CUL3	225070810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.937000	0.28951	2.937000	0.99478	0.650000	0.86243	AGG		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation	5	48	1	0	1.23904e-05	1	1.30099e-05	5	48				
ABR	29	broad.mit.edu	37	17	914042	914042	+	Silent	SNP	G	G	C	rs200483424		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:914042G>C	ENST00000302538.5	-	20	2309	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	ABR_ENST00000574437.1_Silent_p.L675L|ABR_ENST00000544583.2_Silent_p.L675L|ABR_ENST00000291107.2_Silent_p.L684L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L172L|ABR_ENST00000536794.2_Silent_p.L503L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	721	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		AGTACAGCTTGAGCGTCCCGG	0.627																																					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.(2023-2025)ctC>ctG		active BCR-related							121.0	103.0	109.0					17																	914042		2203	4300	6503	SO:0001819	synonymous_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.chr17:914042G>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2163C>G	17.37:g.914042G>C						ABR_ENST00000574437.1_Silent_p.L675L|ABR_ENST00000302538.5_Silent_p.L721L|ABR_ENST00000543210.2_Silent_p.L172L|ABR_ENST00000536794.2_Silent_p.L503L|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Silent_p.L684L	p.L675L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	20	2624	-			721			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2025C>G	CCDS10999.1																																																																																				0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			9	87	0	0	0	1	0	9	87				
MAP1B	4131	broad.mit.edu	37	5	71490881	71490881	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:71490881G>A	ENST00000296755.7	+	5	1997	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	567					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1699-1701)Gag>Aag		microtubule-associated protein 1B							49.0	51.0	50.0					5																	71490881		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490881G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1699G>A	5.37:g.71490881G>A	ENSP00000296755:p.Glu567Lys						p.E567K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1997	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	567					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.1699G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935126	0.34189	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03717	3.83;3.83;3.83	5.63	5.63	0.86233	.	0.483185	0.20482	N	0.091474	T	0.07638	0.0192	L	0.58101	1.795	0.58432	D	0.999998	P;B	0.34562	0.457;0.321	B;B	0.33890	0.172;0.056	T	0.13953	-1.0490	10	0.54805	T	0.06	-0.7519	19.6914	0.96002	0.0:0.0:1.0:0.0	.	441;567	A2BDK6;P46821	.;MAP1B_HUMAN	K	567;584;441	ENSP00000296755:E567K;ENSP00000423444:E584K;ENSP00000423416:E441K	ENSP00000296755:E567K	E	+	1	0	MAP1B	71526637	1.000000	0.71417	0.305000	0.25099	0.050000	0.14768	7.990000	0.88215	2.644000	0.89710	0.563000	0.77884	GAG		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		3	29	0	0	0	1	0	3	29				
DSCAML1	57453	broad.mit.edu	37	11	117314617	117314617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr11:117314617C>A	ENST00000321322.6	-	21	4028	c.4027G>T	c.(4027-4029)Gag>Tag	p.E1343*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1073*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1283	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGCAGGCTCGATGGTCACC	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4027-4029)Gag>Tag		Down syndrome cell adhesion molecule like 1							47.0	47.0	47.0					11																	117314617		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117314617C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4027G>T	11.37:g.117314617C>A	ENSP00000315465:p.Glu1343*					DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1073*	p.E1343*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	21	4028	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1283			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.4027G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	42	9.358985	0.99148	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.5974	0.88016	0.0:1.0:0.0:0.0	.	.	.	.	X	1073;1343;1050	.	ENSP00000315465:E1343X	E	-	1	0	DSCAML1	116819827	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.582000	0.82546	2.365000	0.80145	0.313000	0.20887	GAG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	35	1	0	5.18039e-06	1	5.57888e-06	6	35				
MTMR12	54545	broad.mit.edu	37	5	32274215	32274215	+	Silent	SNP	A	A	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:32274215A>G	ENST00000382142.3	-	3	326	c.156T>C	c.(154-156)ctT>ctC	p.L52L	MTMR12_ENST00000264934.5_Silent_p.L52L|MTMR12_ENST00000280285.5_Silent_p.L52L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	52						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCTTCACAAAGCAGCTGTT	0.468																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(154-156)ctT>ctC		myotubularin related protein 12							134.0	121.0	125.0					5																	32274215		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32274215A>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.156T>C	5.37:g.32274215A>G						MTMR12_ENST00000280285.5_Silent_p.L52L|MTMR12_ENST00000264934.5_Silent_p.L52L	p.L52L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			3	326	-			52					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.156T>C	CCDS34138.1																																																																																				0.468	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		27	62	0	0	0	1	0	27	62				
RTN4RL1	146760	broad.mit.edu	37	17	1840784	1840784	+	Missense_Mutation	SNP	C	C	T	rs11652394	byFrequency	TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:1840784C>T	ENST00000331238.6	-	2	811	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCGCAGCTGCCGGTTGTCGCC	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		17475	0.0		0.001	False		,,,				2504	0.002				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(331-333)cGg>cAg		reticulon 4 receptor-like 1							52.0	58.0	56.0					17																	1840784		2200	4299	6499	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840784C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.332G>A	17.37:g.1840784C>T	ENSP00000330631:p.Arg111Gln						p.R111Q	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	350	-			111						Missense_Mutation	SNP	ENST00000331238.6	37	c.332G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351742	0.61183	.	.	ENSG00000185924	ENST00000331238	T	0.02395	4.31	5.72	4.76	0.60689	.	0.000000	0.36200	N	0.002735	T	0.04182	0.0116	N	0.17901	0.54	0.50039	D	0.999846	P	0.47910	0.902	P	0.48552	0.581	T	0.57608	-0.7782	10	0.46703	T	0.11	.	14.5277	0.67900	0.0:0.9299:0.0:0.0701	rs11652394	111	Q86UN2	R4RL1_HUMAN	Q	111	ENSP00000330631:R111Q	ENSP00000330631:R111Q	R	-	2	0	RTN4RL1	1787534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.813000	0.62620	1.437000	0.47472	0.644000	0.83932	CGG		0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		4	40	0	0	0	1	0	4	40				
PPP1R7	5510	broad.mit.edu	37	2	242109234	242109234	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:242109234C>G	ENST00000234038.6	+	9	1332	c.858C>G	c.(856-858)atC>atG	p.I286M	PPP1R7_ENST00000407025.1_Missense_Mutation_p.I286M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.I243M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	286					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAAATAGAATCAAAAAGATTG	0.378																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(856-858)atC>atG		protein phosphatase 1, regulatory subunit 7							105.0	103.0	104.0					2																	242109234		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242109234C>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.858C>G	2.37:g.242109234C>G	ENSP00000234038:p.Ile286Met					PPP1R7_ENST00000407025.1_Missense_Mutation_p.I286M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.I243M	p.I286M	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	9	1332	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	286					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.858C>G	CCDS2546.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.66|17.66|17.66	3.444229|3.444229|3.444229	0.63067|0.63067|0.63067	.|.|.	.|.|.	ENSG00000115685|ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769|ENST00000450367	T;T;T;T;T|.|.	0.30981|.|.	1.51;2.0;2.0;2.0;2.0|.|.	5.61|5.61|5.61	-0.118|-0.118|-0.118	0.13547|0.13547|0.13547	.|.|.	0.049336|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.79907|0.79907|.	0.4527|0.4527|.	H|H|H	0.94462|0.94462|0.94462	3.54|3.54|3.54	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	0.998;1.0;0.996;0.996|.|.	D;D;D;D|.|.	0.78314|.|.	0.927;0.991;0.923;0.945|.|.	T|T|.	0.79881|0.79881|.	-0.1616|-0.1616|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-22.1766|-22.1766|-22.1766	9.8914|9.8914|9.8914	0.41292|0.41292|0.41292	0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652	.|.|.	270;227;243;286|.|.	C9JD73;C9J177;Q15435-2;Q15435|.|.	.;.;.;PP1R7_HUMAN|.|.	M|E|X	270;227;286;243;286|8|261	ENSP00000396376:I270M;ENSP00000412092:I227M;ENSP00000385657:I286M;ENSP00000272983:I243M;ENSP00000234038:I286M|.|.	ENSP00000234038:I286M|.|.	I|Q|S	+|+|+	3|1|2	3|0|0	PPP1R7|PPP1R7|PPP1R7	241757907|241757907|241757907	0.877000|0.877000|0.877000	0.30153|0.30153|0.30153	0.978000|0.978000|0.978000	0.43139|0.43139|0.43139	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.030000|0.030000|0.030000	0.13688|0.13688|0.13688	-0.348000|-0.348000|-0.348000	0.08286|0.08286|0.08286	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAA|TCA		0.378	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		5	43	0	0	0	1	0	5	43				
PTPRN2	5799	broad.mit.edu	37	7	157874039	157874039	+	Silent	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:157874039C>T	ENST00000389418.4	-	11	1683	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	PTPRN2_ENST00000389416.4_Silent_p.V541V|PTPRN2_ENST00000389413.3_Silent_p.V529V|PTPRN2_ENST00000409483.1_Silent_p.V520V|PTPRN2_ENST00000404321.2_Silent_p.V581V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	558					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGGCGCTCACTTTGAAGG	0.498																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1585-1587)gtG>gtA		protein tyrosine phosphatase, receptor type, N polypeptide 2							307.0	215.0	246.0					7																	157874039		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157874039C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1674G>A	7.37:g.157874039C>T						PTPRN2_ENST00000404321.2_Silent_p.V581V|PTPRN2_ENST00000389416.4_Silent_p.V541V|PTPRN2_ENST00000389418.4_Silent_p.V558V|PTPRN2_ENST00000409483.1_Silent_p.V520V	p.V529V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	10	1690	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	558					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1587G>A	CCDS5947.1																																																																																				0.498	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			4	54	0	0	0	1	0	4	54				
PLXNC1	10154	broad.mit.edu	37	12	94580161	94580161	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:94580161C>T	ENST00000258526.4	+	4	1600	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	451	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGGAGAATTCGTGTTGCAAA	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1351-1353)Cgt>Tgt		plexin C1							127.0	113.0	117.0					12																	94580161		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94580161C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1351C>T	12.37:g.94580161C>T	ENSP00000258526:p.Arg451Cys						p.R451C	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			4	1600	+			451			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1351C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528525	0.44969	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04706	3.57;3.57	5.51	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.054650	0.07232	N	0.862770	T	0.05547	0.0146	L	0.44542	1.39	0.42923	D	0.994291	P	0.50943	0.94	B	0.36335	0.222	T	0.41875	-0.9484	10	0.49607	T	0.09	.	8.9885	0.36008	0.1681:0.6695:0.1624:0.0	.	451	O60486	PLXC1_HUMAN	C	451;67	ENSP00000258526:R451C;ENSP00000447843:R67C	ENSP00000258526:R451C	R	+	1	0	PLXNC1	93104292	0.910000	0.30920	0.973000	0.42090	0.993000	0.82548	1.974000	0.40559	1.267000	0.44247	0.561000	0.74099	CGT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	40	0	0	0	1	0	4	40				
TP53BP1	7158	broad.mit.edu	37	15	43738724	43738724	+	Silent	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr15:43738724C>T	ENST00000263801.3	-	14	3138	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	TP53BP1_ENST00000450115.2_Silent_p.E967E|TP53BP1_ENST00000382044.4_Silent_p.E967E|TP53BP1_ENST00000382039.3_Silent_p.E967E|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	962					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATCATGGGTCTCCACCATGC	0.453								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2884-2886)gaG>gaA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							114.0	112.0	113.0					15																	43738724		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738724C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2886G>A	15.37:g.43738724C>T						TP53BP1_ENST00000450115.2_Silent_p.E967E|TP53BP1_ENST00000382044.4_Silent_p.E967E|TP53BP1_ENST00000382039.3_Silent_p.E967E	p.E962E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3138	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	962					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.2886G>A	CCDS10096.1																																																																																				0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	86	0	0	0	1	0	7	86				
HELB	92797	broad.mit.edu	37	12	66703764	66703764	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:66703764C>A	ENST00000247815.4	+	4	1115	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	352					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1054-1056)ttC>ttA		helicase (DNA) B							236.0	228.0	231.0					12																	66703764		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703764C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1056C>A	12.37:g.66703764C>A	ENSP00000247815:p.Phe352Leu						p.F352L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1115	+			352					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1056C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727270	0.48833	.	.	ENSG00000127311	ENST00000247815	T	0.53857	0.6	6.17	3.8	0.43715	.	0.247838	0.42964	D	0.000640	T	0.57592	0.2064	M	0.68952	2.095	0.32625	N	0.522792	D	0.56521	0.976	P	0.52343	0.696	T	0.67814	-0.5573	9	.	.	.	-32.2118	8.0739	0.30706	0.0:0.1828:0.0:0.8172	.	352	Q8NG08	HELB_HUMAN	L	352	ENSP00000247815:F352L	.	F	+	3	2	HELB	64990031	0.999000	0.42202	0.992000	0.48379	0.038000	0.13279	0.986000	0.29590	1.132000	0.42129	0.655000	0.94253	TTC		0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			21	219	1	0	4.96729e-08	1	5.63855e-08	21	219				
KAT6B	23522	broad.mit.edu	37	10	76781017	76781017	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:76781017G>C	ENST00000287239.4	+	15	3484	c.2995G>C	c.(2995-2997)Gaa>Caa	p.E999Q	RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.E816Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E707Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	999	Catalytic.|Interaction with BRPF1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCAGTGTCTGAAGAAGAGCG	0.398																																						ENST00000287239.4																			0											c.(2995-2997)Gaa>Caa		K(lysine) acetyltransferase 6B							83.0	81.0	82.0					10																	76781017		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781017G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2995G>C	10.37:g.76781017G>C	ENSP00000287239:p.Glu999Gln					KAT6B_ENST00000372711.1_Missense_Mutation_p.E816Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E707Q	p.E999Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			15	3484	+			999			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2995G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974246	0.53720	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78003	-1.13;-1.13;2.0;-1.13;-1.14	6.02	6.02	0.97574	.	0.000000	0.49305	D	0.000144	D	0.86414	0.5927	L	0.54323	1.7	0.58432	D	0.99999	D;D;D	0.89917	0.998;1.0;0.993	D;D;D	0.85130	0.969;0.997;0.968	D	0.86239	0.1642	10	0.66056	D	0.02	-14.7391	18.7001	0.91617	0.0:0.0:1.0:0.0	.	816;707;999	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	707;707;999;707;816	ENSP00000361810:E707Q;ENSP00000361809:E707Q;ENSP00000287239:E999Q;ENSP00000361799:E707Q;ENSP00000361796:E816Q	ENSP00000287239:E999Q	E	+	1	0	KAT6B	76451023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.197000	0.89727	2.855000	0.98099	0.655000	0.94253	GAA		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		5	67	0	0	0	1	0	5	67				
AFTPH	54812	broad.mit.edu	37	2	64779995	64779995	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64779995G>A	ENST00000422803.1	+	2	1701	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	AFTPH_ENST00000238856.4_Missense_Mutation_p.E463K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E463K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E463K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E94K			Q6ULP2	AFTIN_HUMAN	aftiphilin	463					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACTTTTGAAGAGTCTTCAGA	0.408																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1387-1389)Gag>Aag		aftiphilin							156.0	151.0	152.0					2																	64779995		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779995G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1387G>A	2.37:g.64779995G>A	ENSP00000397726:p.Glu463Lys					AFTPH_ENST00000238855.7_Missense_Mutation_p.E463K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E463K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E94K|AFTPH_ENST00000238856.4_Missense_Mutation_p.E463K	p.E463K			Q6ULP2	AFTIN_HUMAN			2	1701	+			463					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1387G>A		.	.	.	.	.	.	.	.	.	.	G	12.58	1.980426	0.34942	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.44482	1.92;1.92;1.92;1.92;0.92	6.06	4.26	0.50523	.	0.322570	0.33792	N	0.004544	T	0.32585	0.0834	L	0.38531	1.155	0.24268	N	0.995256	B;B;P;P	0.49559	0.01;0.01;0.925;0.925	B;B;B;B	0.44163	0.006;0.006;0.443;0.443	T	0.13150	-1.0520	10	0.33141	T	0.24	-4.3233	8.1313	0.31029	0.2879:0.0:0.7121:0.0	.	463;463;463;463	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	463;463;463;463;94	ENSP00000238856:E463K;ENSP00000397726:E463K;ENSP00000238855:E463K;ENSP00000387071:E463K;ENSP00000386913:E94K	ENSP00000238855:E463K	E	+	1	0	AFTPH	64633499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.597000	0.36729	1.567000	0.49668	0.650000	0.86243	GAG		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		15	114	0	0	0	1	0	15	114				
SLC35B1	10237	broad.mit.edu	37	17	47783622	47783622	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:47783622G>C	ENST00000240333.6	-	3	404	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L132V|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1	95					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ATGGCACCCAGATAGGAGATA	0.473																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(283-285)Ctg>Gtg		solute carrier family 35, member B1							64.0	59.0	61.0					17																	47783622		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47783622G>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.283C>G	17.37:g.47783622G>C	ENSP00000240333:p.Leu95Val					SLC35B1_ENST00000415270.2_Missense_Mutation_p.L132V	p.L95V			P78383	S35B1_HUMAN			3	404	-			95					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.283C>G	CCDS11552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.801528|2.801528	0.50315|0.50315	.|.	.|.	ENSG00000121073|ENSG00000121073	ENST00000376622|ENST00000240333;ENST00000415270;ENST00000503334;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763;ENST00000511657	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.77|4.77	2.73|2.73	0.32206|0.32206	.|.	.|0.148789	.|0.46442	.|N	.|0.000281	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.21448|0.21448	0.665|0.665	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B	.|0.46064	.|0.872;0.232;0.232	.|P;B;B	.|0.54706	.|0.759;0.264;0.104	T|T	0.02081|0.02081	-1.1217|-1.1217	6|10	0.66056|0.20519	D|T	0.02|0.43	-5.806|-5.806	9.6197|9.6197	0.39714|0.39714	0.0796:0.1473:0.7731:0.0|0.0796:0.1473:0.7731:0.0	.|.	.|95;28;95	.|B4DJG9;D3DTX1;P78383	.|.;.;S35B1_HUMAN	M|V	115|95;132;28;98;95;64;129;52;28	.|ENSP00000240333:L95V;ENSP00000409548:L132V;ENSP00000423323:L28V;ENSP00000424367:L98V;ENSP00000426961:L64V;ENSP00000427689:L129V;ENSP00000422104:L52V;ENSP00000426402:L28V	ENSP00000365809:I115M|ENSP00000240333:L95V	I|L	-|-	3|1	3|2	SLC35B1|SLC35B1	45138621|45138621	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	3.712000|3.712000	0.54875|0.54875	0.577000|0.577000	0.29470|0.29470	0.655000|0.655000	0.94253|0.94253	ATC|CTG		0.473	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		6	23	0	0	0	1	0	6	23				
WDPCP	51057	broad.mit.edu	37	2	63401895	63401895	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:63401895C>G	ENST00000272321.7	-	15	2515	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	WDPCP_ENST00000398544.3_Missense_Mutation_p.G504A|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471A|WDPCP_ENST00000409120.1_Missense_Mutation_p.G471A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	663					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1411-1413)gGa>gCa		WD repeat containing planar cell polarity effector							160.0	147.0	151.0					2																	63401895		1859	4092	5951	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63401895C>G		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1988G>C	2.37:g.63401895C>G	ENSP00000272321:p.Gly663Ala					WDPCP_ENST00000398544.3_Missense_Mutation_p.G504A|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471A|WDPCP_ENST00000272321.7_Missense_Mutation_p.G663A	p.G471A			O95876	FRITZ_HUMAN			9	4962	-			663					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1412G>C	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112834	0.08831	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.70282	-0.47;0.11;0.11;0.11	5.51	1.29	0.21616	.	0.306550	0.22912	N	0.054126	T	0.47303	0.1438	N	0.19112	0.55	0.21933	N	0.99947	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.19192	-1.0313	10	0.17369	T	0.5	-1.6933	5.7207	0.17985	0.0:0.3929:0.4145:0.1925	.	663;504	O95876;O95876-3	FRITZ_HUMAN;.	A	663;471;471;504	ENSP00000272321:G663A;ENSP00000386592:G471A;ENSP00000386769:G471A;ENSP00000381552:G504A	ENSP00000272321:G663A	G	-	2	0	WDPCP	63255399	0.239000	0.23836	0.589000	0.28718	0.893000	0.52053	0.149000	0.16243	0.248000	0.21435	-0.428000	0.05917	GGA		0.418	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		8	72	0	0	0	1	0	8	72				
ASPDH	554235	broad.mit.edu	37	19	51015780	51015780	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr19:51015780C>T	ENST00000389208.4	-	5	551	c.490G>A	c.(490-492)Gct>Act	p.A164T	ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A59T	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	164					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						TGGGCTGCAGCCAGGGGTCCC	0.657																																						ENST00000389208.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(490-492)Gct>Act		aspartate dehydrogenase domain containing							16.0	22.0	20.0					19																	51015780		2202	4299	6501	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015780C>T		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.490G>A	19.37:g.51015780C>T	ENSP00000373860:p.Ala164Thr					ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A59T	p.A164T	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN			5	551	-			164					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.490G>A	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570283	0.28003	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.44482	0.92;0.93	3.9	3.9	0.45041	.	0.183389	0.36134	N	0.002765	T	0.29945	0.0749	L	0.40543	1.245	0.30934	N	0.726593	P;B	0.37466	0.596;0.106	B;B	0.35353	0.201;0.069	T	0.20107	-1.0285	10	0.13108	T	0.6	-8.538	11.763	0.51914	0.0:1.0:0.0:0.0	.	164;59	A6ND91;A6ND91-2	ASPD_HUMAN;.	T	59;164	ENSP00000366114:A59T;ENSP00000373860:A164T	ENSP00000366114:A59T	A	-	1	0	ASPDH	55707592	0.467000	0.25831	0.993000	0.49108	0.973000	0.67179	1.444000	0.35068	1.908000	0.55244	0.561000	0.74099	GCT		0.657	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		3	12	0	0	0	1	0	3	12				
AFTPH	54812	broad.mit.edu	37	2	64780025	64780025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64780025G>T	ENST00000422803.1	+	2	1731	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E473*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E473*|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.E104*			Q6ULP2	AFTIN_HUMAN	aftiphilin	473					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACATTTTAGTGAACCAGGTGA	0.403																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1417-1419)Gaa>Taa		aftiphilin							130.0	129.0	129.0					2																	64780025		2203	4300	6503	SO:0001587	stop_gained	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780025G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1417G>T	2.37:g.64780025G>T	ENSP00000397726:p.Glu473*					AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.E104*|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E473*	p.E473*			Q6ULP2	AFTIN_HUMAN			2	1731	+			473					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37	c.1417G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.818756	0.98966	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	.	.	.	6.06	5.18	0.71444	.	0.335724	0.31020	N	0.008406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.9184	9.5065	0.39051	0.165:0.0:0.835:0.0	.	.	.	.	X	473;473;473;473;104	.	ENSP00000238855:E473X	E	+	1	0	AFTPH	64633529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.252000	0.32874	2.880000	0.98712	0.650000	0.86243	GAA		0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	119	1	0	2.0095e-06	1	2.22102e-06	7	119				
RAPGEF1	2889	broad.mit.edu	37	9	134518626	134518626	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:134518626C>T	ENST00000372189.3	-	4	566	c.443G>A	c.(442-444)aGc>aAc	p.S148N	RAPGEF1_ENST00000372195.1_Splice_Site_p.S165N|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Splice_Site_p.S166N	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	148					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCCACTCACCTGTGCTGAAT	0.507																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e4+1		Rap guanine nucleotide exchange factor (GEF) 1							43.0	42.0	43.0					9																	134518626		2018	4182	6200	SO:0001630	splice_region_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134518626C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.443+1G>A	9.37:g.134518626C>T						RAPGEF1_ENST00000372190.3_Splice_Site_p.S166_splice|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Splice_Site_p.S148_splice	p.S165_splice			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	4	737	-		Myeloproliferative disorder(178;0.204)	148					Q5JUE4|Q8IV73	Splice_Site	SNP	ENST00000372189.3	37	c.494_splice	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114774	0.94339	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.993;0.989;0.997	T	0.64529	-0.6386	9	.	.	.	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	165;148;166	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	N	148;165;42;148;166;128;74;165;127;166	ENSP00000361269:S165N;ENSP00000361263:S148N;ENSP00000361264:S166N;ENSP00000410640:S127N;ENSP00000402174:S166N	.	S	-	2	0	RAPGEF1	133508447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.379000	0.79691	2.857000	0.98124	0.650000	0.86243	AGC		0.507	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	Missense_Mutation	5	9	0	0	0	1	0	5	9				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		17	50	0	0	0	1	0	17	50				
GALNT10	55568	broad.mit.edu	37	5	153783613	153783613	+	Intron	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:153783613G>A	ENST00000297107.6	+	8	1193				SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000519544.1_Intron|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.G7S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGGCGGGATGGTGAACTGGA	0.557																																						ENST00000377657.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(19-21)Ggt>Agt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							73.0	76.0	75.0					5																	153783613		2203	4300	6503	SO:0001627	intron_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153783613G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1057-51G>A	5.37:g.153783613G>A						SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000297107.6_Intron|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000519544.1_Intron	p.G7S			Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		1	19	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	0					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.19G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977748	0.34848	.	.	ENSG00000164574	ENST00000377657	T	0.60920	0.15	4.02	-6.93	0.01638	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	8	0.14252	T	0.57	.	1.5346	0.02542	0.4964:0.1237:0.1328:0.2471	.	7	D6R8Y1	.	S	7	ENSP00000366885:G7S	ENSP00000366885:G7S	G	+	1	0	GALNT10	153763806	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.619000	0.05572	-1.626000	0.01552	-0.291000	0.09656	GGT		0.557	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		3	20	0	0	0	1	0	3	20				
GRB14	2888	broad.mit.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:165365288delT	ENST00000263915.3	-	7	1429	c.891delA	c.(889-891)aaafs	p.K297fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	297	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373																																						ENST00000263915.3																			2	Deletion - Frameshift(2)	p.K297fs*23(2)	ovary(1)|breast(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(889-891)aafs		growth factor receptor-bound protein 14							111.0	115.0	114.0					2																	165365288		2203	4300	6503	SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365288delT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.891delA	2.37:g.165365288delT	ENSP00000263915:p.Lys297fs					GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	p.K297fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			7	1429	-			297			PH.		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	ENST00000263915.3	37	c.891delA	CCDS2222.1																																																																																				0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	103						7	103	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		2	4						2	4	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	367						7	367	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			0							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		10	27						10	27	---	---	---	---
