#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
FLI1	2313	broad.mit.edu	37	11	128680730	128680730	+	Silent	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:128680730T>C	ENST00000527786.2	+	9	1695	c.1206T>C	c.(1204-1206)ccT>ccC	p.P402P	FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000344954.6_Silent_p.P369P|FLI1_ENST00000534087.2_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	402					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACTTTGTCCCTCCCCATCCAT	0.567			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1105-1107)ccT>ccC		Fli-1 proto-oncogene, ETS transcription factor							107.0	112.0	110.0					11																	128680730		2131	4222	6353	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680730T>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1206T>C	11.37:g.128680730T>C						FLI1_ENST00000429175.2_Silent_p.P402P|FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000534087.1_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P	p.P369P			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1495	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	402					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1107T>C	CCDS44768.1																																																																																				0.567	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	64	0	0	0	1	0	3	64				
CNTN4	152330	broad.mit.edu	37	3	2787328	2787328	+	Missense_Mutation	SNP	C	C	A	rs373163297		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:2787328C>A	ENST00000397461.1	+	5	689	c.305C>A	c.(304-306)gCg>gAg	p.A102E	CNTN4_ENST00000418658.1_Missense_Mutation_p.A102E|CNTN4_ENST00000427331.1_Missense_Mutation_p.A102E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	102	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGTGCACAGCGACAAACTCG	0.418																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(304-306)gCg>gAg		contactin 4							157.0	147.0	150.0					3																	2787328		1936	4141	6077	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787328C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.305C>A	3.37:g.2787328C>A	ENSP00000380602:p.Ala102Glu					CNTN4_ENST00000427331.1_Missense_Mutation_p.A102E|CNTN4_ENST00000418658.1_Missense_Mutation_p.A102E	p.A102E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	689	+		Ovarian(110;0.156)	102			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.305C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344401	0.95807	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95433	0.8518	10	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	102;102	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	E	102;102;102;120;102	ENSP00000408594:A102E;ENSP00000396010:A102E;ENSP00000380602:A102E;ENSP00000404085:A120E;ENSP00000413642:A102E	ENSP00000380602:A102E	A	+	2	0	CNTN4	2762328	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.311000	0.78958	2.736000	0.93811	0.655000	0.94253	GCG		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	128	1	0	0.115264	1	0.115264	3	128				
ZNF135	7694	broad.mit.edu	37	19	58578503	58578503	+	Silent	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:58578503G>A	ENST00000313434.5	+	5	752	c.651G>A	c.(649-651)caG>caA	p.Q217Q	ZNF135_ENST00000511556.1_Silent_p.Q229Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Silent_p.Q175Q|ZNF135_ENST00000359978.6_Silent_p.Q229Q|ZNF135_ENST00000439855.2_Silent_p.Q217Q|ZNF135_ENST00000401053.4_Silent_p.Q241Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	217					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACAAATGTCAGGAATGCGGAA	0.473																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(523-525)caG>caA		zinc finger protein 135							110.0	103.0	106.0					19																	58578503		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578503G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.651G>A	19.37:g.58578503G>A						ZNF135_ENST00000511556.1_Silent_p.Q229Q|ZNF135_ENST00000313434.5_Silent_p.Q217Q|ZNF135_ENST00000439855.2_Silent_p.Q217Q|ZNF135_ENST00000401053.4_Silent_p.Q241Q|ZNF135_ENST00000359978.6_Silent_p.Q229Q	p.Q175Q			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1079	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	229					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.525G>A		.	.	.	.	.	.	.	.	.	.	G	0.083	-1.179733	0.01633	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.49	2.44	0.29823	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	6.9535	0.24558	0.2208:0.0:0.7792:0.0	.	.	.	.	K	235	.	.	R	+	2	0	ZNF135	63270315	0.000000	0.05858	0.546000	0.28166	0.314000	0.28054	-0.575000	0.05861	0.833000	0.34828	-0.259000	0.10710	AGG		0.473	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		3	119	0	0	0	1	0	3	119				
RAF1	5894	broad.mit.edu	37	3	12626642	12626642	+	Silent	SNP	A	A	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:12626642A>G	ENST00000251849.4	-	15	2086	c.1647T>C	c.(1645-1647)tcT>tcC	p.S549S	RAF1_ENST00000542177.1_Silent_p.S468S|RAF1_ENST00000442415.2_Silent_p.S569S|RAF1_ENST00000534997.1_Silent_p.S334S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTTGATGTGAGAATAAGGAA	0.522			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1645-1647)tcT>tcC		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						90.0	78.0	82.0					3																	12626642		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626642A>G	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1647T>C	3.37:g.12626642A>G						RAF1_ENST00000542177.1_Silent_p.S468S|RAF1_ENST00000534997.1_Silent_p.S334S|RAF1_ENST00000442415.2_Silent_p.S569S	p.S549S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			15	2086	-			549			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1647T>C	CCDS2612.1																																																																																				0.522	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		3	87	0	0	0	1	0	3	87				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	67	0	0	0	1	0	4	67				
TUBG1	7283	broad.mit.edu	37	17	40762599	40762599	+	Silent	SNP	A	A	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762599A>G	ENST00000251413.3	+	3	383	c.321A>G	c.(319-321)ggA>ggG	p.G107G	FAM134C_ENST00000585894.1_5'UTR|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	107					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGGCCAGCGGATTCTCCCAGG	0.572																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(319-321)ggA>ggG		tubulin, gamma 1							55.0	57.0	56.0					17																	40762599		2203	4300	6503	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40762599A>G	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.321A>G	17.37:g.40762599A>G						FAM134C_ENST00000585894.1_5'UTR	p.G107G	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	383	+		Breast(137;0.00116)	107					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.321A>G	CCDS11433.1																																																																																				0.572	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	75	0	0	0	1	0	8	75				
AKR1C3	8644	broad.mit.edu	37	10	5141540	5141540	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:5141540G>C	ENST00000380554.3	+	5	1121	c.469G>C	c.(469-471)Gca>Cca	p.A157P	AKR1C3_ENST00000605149.1_Missense_Mutation_p.A134P|AKR1C3_ENST00000439082.2_Missense_Mutation_p.A38P	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	157					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GTGTAAGGATGCAGGATTGGC	0.498																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(469-471)Gca>Cca		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						138.0	123.0	128.0					10																	5141540		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141540G>C	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.469G>C	10.37:g.5141540G>C	ENSP00000369927:p.Ala157Pro					AKR1C3_ENST00000439082.2_Missense_Mutation_p.A38P|AKR1C3_ENST00000605149.1_Missense_Mutation_p.A134P	p.A157P	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			5	1121	+			157					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.469G>C	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915384	0.52546	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.26373	1.74;1.74	2.67	2.67	0.31697	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.321368	0.26136	N	0.026131	T	0.49830	0.1580	M	0.84156	2.68	0.48511	D	0.999664	D;D;D	0.71674	0.964;0.998;0.998	D;D;D	0.70716	0.914;0.97;0.97	T	0.56414	-0.7983	10	0.72032	D	0.01	.	11.0735	0.48016	0.0:0.0:1.0:0.0	.	38;157;157	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	P	38;157	ENSP00000401327:A38P;ENSP00000369927:A157P	ENSP00000369927:A157P	A	+	1	0	AKR1C3	5131540	1.000000	0.71417	0.579000	0.28588	0.367000	0.29736	3.432000	0.52824	1.202000	0.43218	0.491000	0.48974	GCA		0.498	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		3	117	0	0	0	1	0	3	117				
WASH3P	374666	broad.mit.edu	37	15	102515282	102515282	+	RNA	SNP	G	G	A	rs201747221	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr15:102515282G>A	ENST00000557932.1	+	0	1128				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GAGTCCATCCGCCAAGCTGGG	0.652																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515282G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515282G>A														0	1128	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	1.498	-0.552720	0.03996	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-17.9607	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	H	377;368	.	.	R	+	2	0	WASH3P	100332805	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	CGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	28	0	0	0	1	0	3	28				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	42	0	0	0	1	0	3	42				
ANK1	286	broad.mit.edu	37	8	41530362	41530362	+	Missense_Mutation	SNP	G	G	A	rs146416859	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr8:41530362G>A	ENST00000347528.4	-	38	4689	c.4606C>T	c.(4606-4608)Cgt>Tgt	p.R1536C	ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000396942.1_Missense_Mutation_p.R1536C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1536	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGTCTGCACGTAGCGGAGAG	0.607																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4606-4608)Cgt>Tgt		ankyrin 1, erythrocytic		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,	0,4406		0,0,2203	37.0	37.0	37.0		4606,4729,4606,4606,	4.3	1.0	8	dbSNP_134	37	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense,missense,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	benign,benign,benign,benign,	1536/1881,1577/1898,1536/1857,1536/1882,	41530362	11,12995	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530362G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4606C>T	8.37:g.41530362G>A	ENSP00000339620:p.Arg1536Cys					ANK1_ENST00000347528.4_Missense_Mutation_p.R1536C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C	p.R1536C			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4689	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1536			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4606C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138218	0.37728	0.0	0.001279	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.19;-0.18;-0.19;-0.17;-0.21	5.24	4.35	0.52113	.	0.200040	0.43416	N	0.000572	T	0.49098	0.1537	N	0.16478	0.41	0.47547	D	0.999455	B;B;B;B	0.15930	0.011;0.015;0.006;0.011	B;B;B;B	0.15870	0.006;0.014;0.005;0.006	T	0.43734	-0.9373	10	0.42905	T	0.14	.	10.776	0.46350	0.0896:0.0:0.9104:0.0	.	1577;1536;1536;1536	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	C	1536;1536;1536;1536;1536;1536;1577	ENSP00000339620:R1536C;ENSP00000289734:R1536C;ENSP00000369082:R1536C;ENSP00000380149:R1536C;ENSP00000380147:R1536C;ENSP00000309131:R1536C;ENSP00000265709:R1577C	ENSP00000265709:R1577C	R	-	1	0	ANK1	41649519	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.821000	0.39041	1.336000	0.45506	0.552000	0.68991	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	19	0	0	0	1	0	11	19				
TUBG1	7283	broad.mit.edu	37	17	40762598	40762598	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762598G>C	ENST00000251413.3	+	3	382	c.320G>C	c.(319-321)gGa>gCa	p.G107A	FAM134C_ENST00000585894.1_De_novo_Start_OutOfFrame|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	107					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGGGCCAGCGGATTCTCCCAG	0.572																																					Colon(20;114 698 11420 22864)	ENST00000585894.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11								family with sequence similarity 134, member C							55.0	57.0	56.0					17																	40762598		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40762598G>C	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.320G>C	17.37:g.40762598G>C	ENSP00000251413:p.Gly107Ala					TUBG1_ENST00000251413.3_Missense_Mutation_p.G107A				Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	0	43	-		Breast(137;0.00116)						Q53X79|Q9BW59	Translation_Start_Site	SNP	ENST00000251413.3	37		CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855888	0.91355	.	.	ENSG00000131462	ENST00000251413	D	0.81821	-1.54	5.84	5.84	0.93424	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000001	D	0.89962	0.6867	H	0.98646	4.29	0.80722	D	1	P	0.38565	0.637	B	0.38921	0.285	D	0.92413	0.5939	10	0.87932	D	0	-2.8094	20.2033	0.98269	0.0:0.0:1.0:0.0	.	107	P23258	TBG1_HUMAN	A	107	ENSP00000251413:G107A	ENSP00000251413:G107A	G	+	2	0	TUBG1	38016124	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.833000	0.99426	2.785000	0.95823	0.650000	0.86243	GGA		0.572	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	78	0	0	0	1	0	8	78				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	A	rs192934815		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr15:102304884G>A	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>A														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	21	0	0	0	1	0	4	21				
FAM71F1	84691	broad.mit.edu	37	7	128359074	128359074	+	Silent	SNP	T	T	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:128359074T>A	ENST00000315184.5	+	3	677	c.624T>A	c.(622-624)ccT>ccA	p.P208P	FAM71F1_ENST00000485070.1_Silent_p.P109P|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	208										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAGACCCTAGGATTCTTG	0.532																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(622-624)ccT>ccA		family with sequence similarity 71, member F1							131.0	119.0	123.0					7																	128359074		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128359074T>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.624T>A	7.37:g.128359074T>A						FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.P109P	p.P208P	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			3	677	+			208					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.624T>A	CCDS5804.1																																																																																				0.532	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		69	85	0	0	0	1	0	69	85				
PHF3	23469	broad.mit.edu	37	6	64394725	64394725	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:64394725G>A	ENST00000262043.3	+	4	1442	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PHF3_ENST00000509330.1_Missense_Mutation_p.D368N|PHF3_ENST00000393387.1_Missense_Mutation_p.D368N			Q92576	PHF3_HUMAN	PHD finger protein 3	368					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGTTGTGTAGATGAAGTGAC	0.373																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1102-1104)Gat>Aat		PHD finger protein 3							72.0	73.0	73.0					6																	64394725		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394725G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1102G>A	6.37:g.64394725G>A	ENSP00000262043:p.Asp368Asn					PHF3_ENST00000393387.1_Missense_Mutation_p.D368N|PHF3_ENST00000509330.1_Missense_Mutation_p.D368N	p.D368N			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1442	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		368					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1102G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	6.099	0.386482	0.11524	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.48201	2.21;1.81;2.17;1.82;0.82;2.17	5.65	3.83	0.44106	.	0.472444	0.15725	N	0.247713	T	0.21509	0.0518	L	0.47716	1.5	0.22066	N	0.999387	B;B	0.12013	0.001;0.005	B;B	0.11329	0.001;0.006	T	0.23261	-1.0193	10	0.52906	T	0.07	-3.3833	9.5452	0.39277	0.2296:0.0:0.7704:0.0	.	368;368	Q92576;D6R9X2	PHF3_HUMAN;.	N	182;280;368;321;368;368	ENSP00000424694:D182N;ENSP00000425227:D280N;ENSP00000262043:D368N;ENSP00000424078:D321N;ENSP00000422841:D368N;ENSP00000377048:D368N	ENSP00000262043:D368N	D	+	1	0	PHF3	64452684	0.998000	0.40836	0.748000	0.31131	0.563000	0.35712	1.152000	0.31663	0.698000	0.31739	0.591000	0.81541	GAT		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	67	0	0	0	1	0	32	67				
OR8K5	219453	broad.mit.edu	37	11	55926983	55926983	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:55926983C>A	ENST00000313447.1	-	1	810	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(811-813)Gat>Tat		olfactory receptor, family 8, subfamily K, member 5							107.0	92.0	97.0					11																	55926983		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926983C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.811G>T	11.37:g.55926983C>A	ENSP00000323853:p.Asp271Tyr						p.D271Y	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	810	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	271					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.811G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766908	0.49574	.	.	ENSG00000181752	ENST00000313447	T	0.00256	8.42	3.98	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.00637	0.0021	H	0.95004	3.61	0.30106	N	0.806987	D	0.89917	1.0	D	0.79784	0.993	T	0.04440	-1.0951	10	0.87932	D	0	.	5.3734	0.16152	0.0:0.7683:0.0:0.2317	.	271	Q8NH50	OR8K5_HUMAN	Y	271	ENSP00000323853:D271Y	ENSP00000323853:D271Y	D	-	1	0	OR8K5	55683559	0.000000	0.05858	0.982000	0.44146	0.860000	0.49131	-0.342000	0.07801	2.202000	0.70862	0.465000	0.42564	GAT		0.398	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		3	72	1	0	0.00909568	1	0.009601	3	72				
KRAS	3845	broad.mit.edu	37	12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T	rs121913238		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380277G>T	ENST00000256078.4	-	3	244	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTG	0.413	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	42	Substitution - Missense(42)	p.Q61K(32)|p.Q61E(10)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)Caa>Aaa		Kirsten rat sarcoma viral oncogene homolog							109.0	97.0	101.0					12																	25380277		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277G>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.181C>A	12.37:g.25380277G>T	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron	p.Q61K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	372	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.181C>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341837	0.81911	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83506	-1.73;-1.73	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.89100	0.6619	M	0.93808	3.46	0.80722	D	1	B;B	0.24768	0.111;0.039	B;B	0.29663	0.058;0.105	D	0.87412	0.2376	10	0.62326	D	0.03	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	K	61	ENSP00000308495:Q61K;ENSP00000256078:Q61K	ENSP00000256078:Q61K	Q	-	1	0	KRAS	25271544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	CAA		0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		24	47	1	0	8.58068e-18	1	9.88079e-18	24	47				
CNNM4	26504	broad.mit.edu	37	2	97464932	97464932	+	Missense_Mutation	SNP	A	A	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:97464932A>G	ENST00000377075.2	+	4	1918	c.1820A>G	c.(1819-1821)aAg>aGg	p.K607R	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.K94R|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	607					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACCCGAAATAAGCCGGCCGAC	0.582																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1819-1821)aAg>aGg		cyclin M4							99.0	89.0	93.0					2																	97464932		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464932A>G	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1820A>G	2.37:g.97464932A>G	ENSP00000366275:p.Lys607Arg					CNNM4_ENST00000540067.1_Missense_Mutation_p.K94R|CNNM4_ENST00000496186.1_3'UTR	p.K607R	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1918	+			607					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1820A>G	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901574	0.52227	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.42131	0.98	5.02	3.87	0.44632	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.050211	0.85682	N	0.000000	T	0.36552	0.0971	L	0.60012	1.86	0.51482	D	0.999929	P;B	0.39131	0.661;0.006	B;B	0.36504	0.226;0.011	T	0.10941	-1.0608	10	0.34782	T	0.22	-20.0335	9.8117	0.40826	0.917:0.0:0.083:0.0	.	94;607	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	R	607;94	ENSP00000366275:K607R	ENSP00000366275:K607R	K	+	2	0	CNNM4	96828659	0.975000	0.34042	0.915000	0.36163	0.883000	0.51084	2.197000	0.42696	0.877000	0.35895	0.459000	0.35465	AAG		0.582	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		3	105	0	0	0	1	0	3	105				
IREB2	3658	broad.mit.edu	37	15	78755395	78755395	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr15:78755395T>C	ENST00000258886.8	+	3	387	c.238T>C	c.(238-240)Ttt>Ctt	p.F80L	IREB2_ENST00000560440.1_Missense_Mutation_p.F80L	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	80					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(238-240)Ttt>Ctt		iron-responsive element binding protein 2							227.0	211.0	216.0					15																	78755395		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755395T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.238T>C	15.37:g.78755395T>C	ENSP00000258886:p.Phe80Leu					IREB2_ENST00000560440.1_Missense_Mutation_p.F80L	p.F80L	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	387	+			80					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.238T>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914635	0.92178	.	.	ENSG00000136381	ENST00000258886	T	0.36157	1.27	5.87	3.59	0.41128	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.041546	0.85682	N	0.000000	T	0.54919	0.1888	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.53351	-0.8451	10	0.56958	D	0.05	.	10.4942	0.44768	0.0:0.1196:0.0:0.8804	.	80;80	P48200;Q8WVK6	IREB2_HUMAN;.	L	80	ENSP00000258886:F80L	ENSP00000258886:F80L	F	+	1	0	IREB2	76542450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.978000	0.70501	0.580000	0.29522	0.533000	0.62120	TTT		0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		4	227	0	0	0	1	0	4	227				
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304883C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304883C>G														0	12929	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	21	0	0	0	1	0	3	21				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	130	0	0	0	1	0	4	130				
PLK4	10733	broad.mit.edu	37	4	128806990	128806990	+	Missense_Mutation	SNP	T	T	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr4:128806990T>G	ENST00000270861.5	+	5	739	c.465T>G	c.(463-465)ttT>ttG	p.F155L	PLK4_ENST00000514379.1_Missense_Mutation_p.F114L|PLK4_ENST00000513090.1_Missense_Mutation_p.F123L|PLK4_ENST00000515069.1_Missense_Mutation_p.F155L|PLK4_ENST00000507249.1_Missense_Mutation_p.F155L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCTGATTTTGGGCTGGCAA	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(463-465)ttT>ttG		polo-like kinase 4							171.0	160.0	164.0					4																	128806990		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128806990T>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.465T>G	4.37:g.128806990T>G	ENSP00000270861:p.Phe155Leu					PLK4_ENST00000515069.1_Missense_Mutation_p.F155L|PLK4_ENST00000507249.1_Missense_Mutation_p.F155L|PLK4_ENST00000513090.1_Missense_Mutation_p.F123L|PLK4_ENST00000514379.1_Missense_Mutation_p.F114L	p.F155L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	739	+			155			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.465T>G	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484181	0.84854	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.92	2.24	0.28232	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73936	-0.3825	10	0.87932	D	0	-11.5607	9.2514	0.37557	0.0:0.2036:0.0:0.7964	.	123;155	O00444-2;O00444	.;PLK4_HUMAN	L	155;155;123;155;114	ENSP00000270861:F155L;ENSP00000421774:F155L;ENSP00000427554:F123L;ENSP00000423412:F155L;ENSP00000423582:F114L	ENSP00000270861:F155L	F	+	3	2	PLK4	129026440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.006000	0.57083	0.491000	0.27793	0.533000	0.62120	TTT		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			3	170	0	0	0	1	0	3	170				
SERPINE3	647174	broad.mit.edu	37	13	51915403	51915403	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:51915403T>C	ENST00000521255.1	+	1	236	c.176T>C	c.(175-177)cTc>cCc	p.L59P	SERPINE3_ENST00000524365.1_Missense_Mutation_p.L59P|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	59					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GGTGTGTCCCTCCCCCTGGAG	0.557																																						ENST00000524365.1																			0				ovary(2)	2						c.(175-177)cTc>cCc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							77.0	82.0	80.0					13																	51915403		2137	4249	6386	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915403T>C	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.176T>C	13.37:g.51915403T>C	ENSP00000428316:p.Leu59Pro					SERPINE3_ENST00000521255.1_Missense_Mutation_p.L59P|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P	p.L59P			A8MV23	SERP3_HUMAN			4	801	+			59					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.176T>C	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711835	0.48517	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.24723	1.84;1.84;1.84	4.15	4.15	0.48705	Serpin domain (3);	0.546002	0.14503	U	0.315613	T	0.42698	0.1214	L	0.56769	1.78	0.29037	N	0.885346	D;D	0.67145	0.995;0.996	P;D	0.66979	0.865;0.948	T	0.23726	-1.0180	10	0.52906	T	0.07	.	8.9806	0.35964	0.0:0.0:0.1868:0.8132	.	59;59	A8MV23-2;A8MV23	.;SERP3_HUMAN	P	59	ENSP00000430755:L59P;ENSP00000428316:L59P;ENSP00000441468:L59P	ENSP00000441468:L59P	L	+	2	0	SERPINE3	50813404	0.113000	0.22115	0.002000	0.10522	0.001000	0.01503	3.066000	0.50002	1.749000	0.51849	0.533000	0.62120	CTC		0.557	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	51	0	0	0	1	0	3	51				
SMARCAL1	50485	broad.mit.edu	37	2	217332707	217332707	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:217332707T>C	ENST00000357276.4	+	14	2512	c.2182T>C	c.(2182-2184)Ttt>Ctt	p.F728L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	728	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAGAGAGAAGTTTTTAGTATT	0.393									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2182-2184)Ttt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							181.0	174.0	176.0					2																	217332707		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217332707T>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2182T>C	2.37:g.217332707T>C	ENSP00000349823:p.Phe728Leu					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L	p.F728L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	14	2512	+		Renal(323;0.0458)	728			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2182T>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488933	0.44249	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.91945	-2.94;-2.94;-0.88	4.76	3.59	0.41128	Helicase, C-terminal (1);	0.051708	0.85682	D	0.000000	D	0.84737	0.5538	N	0.25426	0.745	0.49213	D	0.999767	B	0.18166	0.026	B	0.15484	0.013	T	0.80679	-0.1275	10	0.37606	T	0.19	-14.7973	9.6911	0.40129	0.0:0.0941:0.0:0.9059	.	728	Q9NZC9	SMAL1_HUMAN	L	728;728;570	ENSP00000349823:F728L;ENSP00000350940:F728L;ENSP00000375974:F570L	ENSP00000349823:F728L	F	+	1	0	SMARCAL1	217040952	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.614000	0.67695	2.001000	0.58596	0.533000	0.62120	TTT		0.393	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			4	106	0	0	0	1	0	4	106				
GRM4	2914	broad.mit.edu	37	6	34003992	34003992	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:34003992C>T	ENST00000538487.2	-	9	2338	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	GRM4_ENST00000374181.4_Missense_Mutation_p.G632D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000544773.2_Missense_Mutation_p.G463D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000609222.1_Missense_Mutation_p.G499D|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	632					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGGAAGATGCCTGCCAGCAG	0.597																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)gGc>gAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						96.0	82.0	87.0					6																	34003992		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003992C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1895G>A	6.37:g.34003992C>T	ENSP00000440556:p.Gly632Asp					GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000544773.1_Missense_Mutation_p.G463D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000538487.1_Missense_Mutation_p.G632D|GRM4_ENST00000545715.1_Missense_Mutation_p.G324D	p.G632D	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2064	-			632					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1895G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531017	0.85706	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;1.0;1.0;0.998	D	0.96791	0.9582	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	585;463;492;632;499	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	D	632;516;324;499;463;632;492	ENSP00000363296:G632D;ENSP00000363292:G516D;ENSP00000445533:G324D;ENSP00000437925:G499D;ENSP00000437730:G463D;ENSP00000440556:G632D;ENSP00000398456:G492D	ENSP00000363292:G516D	G	-	2	0	GRM4	34111970	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	GGC		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			3	44	0	0	0	1	0	3	44				
HK2	3099	broad.mit.edu	37	2	75061718	75061718	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:75061718C>G	ENST00000290573.2	+	1	611	c.11C>G	c.(10-12)tCg>tGg	p.S4W	HK2_ENST00000409174.1_5'Flank|RP11-259N19.1_ENST00000610008.1_lincRNA	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.S4L(1)|p.S4W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGATTGCCTCGCATCTGCTT	0.662																																						ENST00000290573.2																			2	Substitution - Missense(2)	p.S4L(1)|p.S4W(1)	urinary_tract(1)|lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(10-12)tCg>tGg		hexokinase 2							61.0	57.0	58.0					2																	75061718		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75061718C>G		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.11C>G	2.37:g.75061718C>G	ENSP00000290573:p.Ser4Trp						p.S4W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			1	611	+			4			Hydrophobic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.11C>G	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436492	0.83885	.	.	ENSG00000159399	ENST00000290573;ENST00000535740	D	0.97665	-4.48	3.97	3.97	0.46021	.	0.263111	0.32106	N	0.006565	D	0.93468	0.7916	N	0.14661	0.345	0.58432	D	0.999998	D	0.59357	0.985	P	0.47864	0.559	D	0.93920	0.7205	10	0.87932	D	0	-4.6526	11.3902	0.49809	0.0:1.0:0.0:0.0	.	4	P52789	HXK2_HUMAN	W	4	ENSP00000290573:S4W	ENSP00000290573:S4W	S	+	2	0	HK2	74915226	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.687000	0.54692	2.026000	0.59711	0.643000	0.83706	TCG		0.662	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		3	106	0	0	0	1	0	3	106				
C10orf12	26148	broad.mit.edu	37	10	98741586	98741586	+	Missense_Mutation	SNP	A	A	G			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:98741586A>G	ENST00000286067.2	+	1	546	c.439A>G	c.(439-441)Agg>Ggg	p.R147G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	147										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAAGTAAAAGGGCATCAGG	0.423																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(439-441)Agg>Ggg		chromosome 10 open reading frame 12							95.0	92.0	93.0					10																	98741586		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741586A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.439A>G	10.37:g.98741586A>G	ENSP00000286067:p.Arg147Gly						p.R147G	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	546	+		Colorectal(252;0.172)	147					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.439A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.651069	0.67472	.	.	ENSG00000155640	ENST00000286067	T	0.12465	2.68	5.95	5.95	0.96441	.	0.382684	0.26153	N	0.026029	T	0.21145	0.0509	N	0.24115	0.695	0.40824	D	0.983539	D	0.63046	0.992	P	0.57101	0.813	T	0.01753	-1.1281	10	0.72032	D	0.01	-9.9644	16.4046	0.83654	1.0:0.0:0.0:0.0	.	147	Q8N655	CJ012_HUMAN	G	147	ENSP00000286067:R147G	ENSP00000286067:R147G	R	+	1	2	C10orf12	98731576	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.483000	0.60264	2.277000	0.76020	0.533000	0.62120	AGG		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		3	104	0	0	0	1	0	3	104				
MRPL10	124995	broad.mit.edu	37	17	45904011	45904011	+	Missense_Mutation	SNP	G	G	A	rs372584381		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:45904011G>A	ENST00000351111.2	-	4	529	c.524C>T	c.(523-525)cCg>cTg	p.P175L	MRPL10_ENST00000290208.7_Missense_Mutation_p.P185L|MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	175					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ACCTAGCAGCGGCAGGAATGG	0.557																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(553-555)cCg>cTg		mitochondrial ribosomal protein L10		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	70.0	66.0	68.0		524,554	5.6	1.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MRPL10	NM_145255.3,NM_148887.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	175/262,185/272	45904011	1,13005	2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904011G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.524C>T	17.37:g.45904011G>A	ENSP00000324100:p.Pro175Leu					MRPL10_ENST00000351111.2_Missense_Mutation_p.P175L|MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L	p.P185L			Q7Z7H8	RM10_HUMAN			4	1006	-			175					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.554C>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500159	0.26861	0.0	1.16E-4	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.39229	1.09;1.09;1.09	5.62	5.62	0.85841	.	0.332161	0.37809	N	0.001926	T	0.38852	0.1056	M	0.63843	1.955	0.44562	D	0.997527	B;B	0.13594	0.003;0.008	B;B	0.06405	0.002;0.002	T	0.17077	-1.0381	10	0.28530	T	0.3	-4.5819	10.6399	0.45586	0.0873:0.0:0.9127:0.0	.	175;185	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	175;185;185	ENSP00000324100:P175L;ENSP00000290208:P185L;ENSP00000395870:P185L	ENSP00000290208:P185L	P	-	2	0	MRPL10	43259010	0.182000	0.23173	0.966000	0.40874	0.541000	0.35023	1.218000	0.32467	2.657000	0.90304	0.561000	0.74099	CCG		0.557	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	119	0	0	0	1	0	7	119				
GRAMD1A	57655	broad.mit.edu	37	19	35500211	35500211	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:35500211G>A	ENST00000317991.5	+	2	389	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R153Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	66						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAGGCAGCCGGAACTTCATC	0.637																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(457-459)cGg>cAg		GRAM domain containing 1A							41.0	49.0	46.0					19																	35500211		1967	4135	6102	SO:0001583	missense	57655					integral to membrane		g.chr19:35500211G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.197G>A	19.37:g.35500211G>A	ENSP00000441032:p.Arg66Gln					GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q	p.R153Q			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	529	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		66			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.458G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919022	0.92249	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25749	1.81;1.78	4.67	4.67	0.58626	.	0.184638	0.37577	N	0.002038	T	0.38532	0.1044	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.97	D;P;P;P	0.78314	0.991;0.733;0.897;0.705	T	0.15037	-1.0451	10	0.51188	T	0.08	.	15.1055	0.72319	0.0:0.0:1.0:0.0	.	66;66;66;153	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	Q	153;66;66	ENSP00000441032:R66Q;ENSP00000439267:R66Q	ENSP00000441032:R66Q	R	+	2	0	GRAMD1A	40192051	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.093000	0.64517	2.426000	0.82243	0.561000	0.74099	CGG		0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		3	69	0	0	0	1	0	3	69				
IQCE	23288	broad.mit.edu	37	7	2613074	2613074	+	Silent	SNP	C	C	A	rs372351268		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:2613074C>A	ENST00000402050.2	+	6	601	c.417C>A	c.(415-417)gtC>gtA	p.V139V	IQCE_ENST00000438376.2_Silent_p.V123V|IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	139						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGACTCCTGTCTACAGAGAAA	0.348																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(415-417)gtC>gtA		IQ motif containing E							153.0	140.0	144.0					7																	2613074		1849	4085	5934	SO:0001819	synonymous_variant	23288							g.chr7:2613074C>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.417C>A	7.37:g.2613074C>A						IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V|IQCE_ENST00000438376.2_Silent_p.V123V	p.V139V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	601	+		Ovarian(82;0.0112)	139					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.417C>A	CCDS43542.1																																																																																				0.348	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		3	53	1	0	0.00024832	1	0.000269605	3	53				
PSIP1	11168	broad.mit.edu	37	9	15474206	15474206	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr9:15474206T>C	ENST00000380733.4	-	9	1002	c.659A>G	c.(658-660)aAg>aGg	p.K220R	PSIP1_ENST00000380716.4_Missense_Mutation_p.K220R|PSIP1_ENST00000380738.4_Missense_Mutation_p.K220R|PSIP1_ENST00000397519.2_Missense_Mutation_p.K220R|PSIP1_ENST00000380715.1_Missense_Mutation_p.K220R			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	220					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCTTGCCCCTTTTTCTTACT	0.358																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(658-660)aAg>aGg		PC4 and SFRS1 interacting protein 1							201.0	203.0	202.0					9																	15474206		2202	4299	6501	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15474206T>C	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.659A>G	9.37:g.15474206T>C	ENSP00000370109:p.Lys220Arg					PSIP1_ENST00000380716.4_Missense_Mutation_p.K220R|PSIP1_ENST00000380715.1_Missense_Mutation_p.K220R|PSIP1_ENST00000380738.4_Missense_Mutation_p.K220R|PSIP1_ENST00000397519.2_Missense_Mutation_p.K220R	p.K220R			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	9	1002	-			220					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.659A>G	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981245	0.74474	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.49432	0.87;0.87;0.78;0.78;0.78	5.53	5.53	0.82687	.	0.257134	0.44902	D	0.000416	T	0.65821	0.2728	M	0.62723	1.935	0.41190	D	0.986297	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.73708	0.981;0.956;0.971	T	0.67910	-0.5548	10	0.54805	T	0.06	.	15.6152	0.76760	0.0:0.0:0.0:1.0	.	220;220;220	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	R	220	ENSP00000370109:K220R;ENSP00000370114:K220R;ENSP00000370091:K220R;ENSP00000370092:K220R;ENSP00000380653:K220R	ENSP00000370091:K220R	K	-	2	0	PSIP1	15464206	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.928000	0.63447	2.231000	0.72958	0.460000	0.39030	AAG		0.358	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		4	302	0	0	0	1	0	4	302				
DLG5	9231	broad.mit.edu	37	10	79595529	79595529	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:79595529C>A	ENST00000372391.2	-	8	1594	c.1589G>T	c.(1588-1590)cGa>cTa	p.R530L	DLG5_ENST00000372388.2_Missense_Mutation_p.R530L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	530					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATCTTGTCTCGCTCCTGGAA	0.622																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1588-1590)cGa>cTa		discs, large homolog 5 (Drosophila)							78.0	61.0	67.0					10																	79595529		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79595529C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1589G>T	10.37:g.79595529C>A	ENSP00000361467:p.Arg530Leu					DLG5_ENST00000372388.2_Missense_Mutation_p.R530L	p.R530L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		8	1594	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		530					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1589G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042193	0.93685	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.10960	2.82;2.88	5.8	4.9	0.64082	.	0.236203	0.22123	N	0.064314	T	0.32041	0.0816	M	0.69358	2.11	0.39852	D	0.973251	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.998;0.909	T	0.09378	-1.0677	10	0.66056	D	0.02	.	15.0675	0.72008	0.0:0.932:0.0:0.068	.	420;530;530	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	L	530	ENSP00000361467:R530L;ENSP00000361464:R530L	ENSP00000361464:R530L	R	-	2	0	DLG5	79265535	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.487000	0.81328	1.451000	0.47736	0.655000	0.94253	CGA		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	22	1	0	2.37509e-13	1	2.65451e-13	19	22				
KRAS	3845	broad.mit.edu	37	12	25380278	25380278	+	Silent	SNP	A	A	T	rs397517037		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380278A>T	ENST00000256078.4	-	3	243	c.180T>A	c.(178-180)ggT>ggA	p.G60G	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.G60G	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). {ECO:0000269|PubMed:16474404}.|G -> S (in NS3). {ECO:0000269|PubMed:19396835}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(6)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACTCCTCTTGACCTGCTGTGT	0.413		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	7	Substitution - Missense(6)|Substitution - coding silent(1)	p.Q61K(6)|p.G60G(1)	large_intestine(5)|urinary_tract(1)|lung(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-180)ggT>ggA		Kirsten rat sarcoma viral oncogene homolog							108.0	96.0	100.0					12																	25380278		2203	4300	6503	SO:0001819	synonymous_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380278A>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180T>A	12.37:g.25380278A>T		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Silent_p.G60G|KRAS_ENST00000557334.1_Intron	p.G60G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	371	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		60		G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).			A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	c.180T>A	CCDS8703.1																																																																																				0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		25	46	0	0	0	1	0	25	46				
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:39633889G>A	ENST00000393989.1	-	6	1143	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	KRT35_ENST00000246639.2_Silent_p.A337A	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647																																						ENST00000246639.2																			2	Substitution - coding silent(2)	p.A367A(2)	prostate(1)|kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1009-1011)gcC>gcT		keratin 35							58.0	59.0	59.0					17																	39633889		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633889G>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1101C>T	17.37:g.39633889G>A						KRT35_ENST00000393989.1_Silent_p.A367A	p.A337A			Q92764	KRT35_HUMAN			6	1143	-		Breast(137;0.000286)	367			Coil 2.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.1011C>T	CCDS11394.2																																																																																				0.647	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		5	98	0	0	0	1	0	5	98				
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	261						7	261	---	---	---	---
STK39	27347	broad.mit.edu	37	2	169103865	169103866	+	In_Frame_Ins	INS	-	-	GCC	rs549892329	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:169103865_169103866insGCC	ENST00000355999.4	-	1	785_786	c.80_81insGGC	c.(79-81)gcc>gcGGCc	p.27_27A>AA		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	27	Ala/Pro-rich.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						cggccgccggggccgccgccgc	0.817														99	0.0197684	0.0068	0.0173	5008	,	,		3592	0.0		0.0258	False		,,,				2504	0.0532					ENST00000355999.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						c.(79-81)gcc>gGGCcc		serine threonine kinase 39																																				SO:0001652	inframe_insertion	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169103865_169103866insGCC	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.78_80dupGGC	2.37:g.169103872_169103874dupGCC	ENSP00000348278:p.Ala27dup						p.27_27A>GP	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN			1	785_786	-			27			Ala/Pro-rich.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	In_Frame_Ins	INS	ENST00000355999.4	37	c.80_81insGGC	CCDS42770.1																																																																																				0.817	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		3	5						3	5	---	---	---	---
NEK11	79858	broad.mit.edu	37	3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:130881254delA	ENST00000510769.1	+	7	903	c.650delA	c.(649-651)caafs	p.Q217fs	NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000383366.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATTTATAGGCAAAAAAGGATC	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(964-966)cafs		NIMA-related kinase 11							143.0	167.0	158.0					3																	130881254		2203	4300	6503	SO:0001589	frameshift_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881254delA	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.650delA	3.37:g.130881254delA	ENSP00000421549:p.Gln217fs					NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs	p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1258	+			322						Frame_Shift_Del	DEL	ENST00000510769.1	37	c.965delA																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		8	488						8	488	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74228155	74228158	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:74228155_74228158delGACA	ENST00000316292.9	-	5	1939_1942	c.948_951delTGTC	c.(946-951)tctgtcfs	p.SV316fs	EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	316					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACATCCTTGACAGACACATTCT	0.446											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(946-951)tcfs		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228155_74228158delGACA	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.948_951delTGTC	6.37:g.74228159_74228162delGACA	ENSP00000339063:p.Ser316fs		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs	p.SV316fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	1939_1942	-			316					P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	c.948_951delTGTC	CCDS4980.1																																																																																				0.446	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		35	43						35	43	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23913335	23913340	+	In_Frame_Del	DEL	AAATCC	AAATCC	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:23913335_23913340delAAATCC	ENST00000382292.3	-	9	4948_4953	c.4675_4680delGGATTT	c.(4675-4680)ggatttdel	p.GF1559del	SACS_ENST00000382298.3_In_Frame_Del_p.GF1559del|SACS_ENST00000402364.1_In_Frame_Del_p.GF809del			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1559					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACACAGAATTAAATCCAAGACCAAAT	0.33																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4675-4680)del		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001651	inframe_deletion	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913335_23913340delAAATCC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4675_4680delGGATTT	13.37:g.23913335_23913340delAAATCC	ENSP00000371729:p.Gly1559_Phe1560del					SACS_ENST00000402364.1_In_Frame_Del_p.GF809del|SACS_ENST00000382292.3_In_Frame_Del_p.GF1559del	p.GF1559del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5263_5268	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1559					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	In_Frame_Del	DEL	ENST00000382292.3	37	c.4675_4680delGGATTT	CCDS9300.2																																																																																				0.330	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	140						10	140	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-	rs200495212	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:25525716delA	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TGGAAGAAACAAAAAAAAGAA	0.383													AAAAAAA|AAAAAAAA|AAAAAAA|insertion	774	0.154553	0.1256	0.1571	5008	,	,		14949	0.2123		0.162	False		,,,				2504	0.1247					ENST00000429698.1																			0																																																			0							g.chr13:25525716delA			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25525716delA														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.383	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			2	4						2	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066609	+	lincRNA	DEL	TT	TT	-	rs200816848		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:58066608_58066609delTT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTTT	0.312																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608_58066609delTT																													17.37:g.58066618_58066619delTT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.312	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	3						3	3	---	---	---	---
