#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RHOC	389	broad.mit.edu	37	1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369638.2_Missense_Mutation_p.E64K			P08134	RHOC_HUMAN	ras homolog family member C	64					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATAGTCTTCCTGCCCTGCT	0.612																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(190-192)Gaa>Aaa		ras homolog family member C							77.0	71.0	73.0					1																	113245708		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113245708C>T	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.190G>A	1.37:g.113245708C>T	ENSP00000285735:p.Glu64Lys					RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K	p.E64K			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1399	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	64					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.190G>A	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993906	0.97184	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.49916	D	0.000140	D	0.92208	0.7529	H	0.95780	3.72	0.80722	D	1	D	0.52996	0.957	P	0.57502	0.822	D	0.94142	0.7398	10	0.87932	D	0	-8.4297	18.7749	0.91907	0.0:1.0:0.0:0.0	.	64	P08134	RHOC_HUMAN	K	64;64;64;64;64;64;64;64;101;64;64;64;64	ENSP00000345236:E64K;ENSP00000358647:E64K;ENSP00000358656:E64K;ENSP00000285735:E64K;ENSP00000358652:E64K;ENSP00000358651:E64K;ENSP00000358650:E64K;ENSP00000358646:E64K;ENSP00000434877:E101K;ENSP00000390823:E64K;ENSP00000436240:E64K;ENSP00000399424:E64K;ENSP00000395791:E64K	ENSP00000285735:E64K	E	-	1	0	RHOC	113047231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.042000	0.70996	2.537000	0.85549	0.561000	0.74099	GAA		0.612	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		9	46	9	46	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:155891693G>C	ENST00000368321.3	-	9	994	c.971C>G	c.(970-972)tCt>tGt	p.S324C	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368320.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	324							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACAAATCTAGAGTATTCAGC	0.363																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(970-972)tCt>tGt		KIAA0907							69.0	69.0	69.0					1																	155891693		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891693G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.971C>G	1.37:g.155891693G>C	ENSP00000357304:p.Ser324Cys					KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C	p.S324C			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		9	996	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		324					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.971C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986772	0.74589	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.46819	0.86;0.86;0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.50333	1.59	0.80722	D	1	D;P;P	0.53151	0.958;0.9;0.9	P;P;P	0.52554	0.702;0.614;0.542	T	0.48364	-0.9042	10	0.66056	D	0.02	-17.2111	18.1253	0.89584	0.0:0.0:1.0:0.0	.	324;324;324	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	C	324	ENSP00000357304:S324C;ENSP00000357303:S324C;ENSP00000357302:S324C	ENSP00000357302:S324C	S	-	2	0	KIAA0907	154158317	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.684000	0.84104	2.821000	0.97095	0.484000	0.47621	TCT		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	24	9	24	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196285089T>A	ENST00000294725.9	-	21	3331	c.2416A>T	c.(2416-2418)Acc>Tcc	p.T806S	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000367433.5_Missense_Mutation_p.T782S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	806					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCACTCATGGTGCTCTCTTTA	0.433																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2344-2346)Acc>Tcc		potassium channel, subfamily T, member 2							140.0	114.0	123.0					1																	196285089		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285089T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2416A>T	1.37:g.196285089T>A	ENSP00000294725:p.Thr806Ser					KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T806S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR	p.T782S	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN			20	2445	-			806					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2344A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914311	0.33815	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.72725	-0.68;-0.68;-0.68	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.47820	0.1466	N	0.04686	-0.185	0.80722	D	1	B;B;B;B;B	0.25521	0.008;0.128;0.028;0.028;0.008	B;B;B;B;B	0.25405	0.02;0.06;0.03;0.028;0.02	T	0.51733	-0.8668	10	0.02654	T	1	-17.3478	16.2853	0.82717	0.0:0.0:0.0:1.0	.	806;764;782;732;806	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	782;732;806	ENSP00000356403:T782S;ENSP00000356401:T732S;ENSP00000294725:T806S	ENSP00000294725:T806S	T	-	1	0	KCNT2	194551712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.194000	0.72082	2.236000	0.73375	0.528000	0.53228	ACC		0.433	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		14	23	14	23	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196398768C>A	ENST00000294725.9	-	9	1673	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L|KCNT2_ENST00000367433.5_Missense_Mutation_p.W253L|KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	253					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGGAGGACCATGTTTCAGG	0.408																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(757-759)tGg>tTg		potassium channel, subfamily T, member 2							120.0	105.0	110.0					1																	196398768		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398768C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.758G>T	1.37:g.196398768C>A	ENSP00000294725:p.Trp253Leu					KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.W253L|KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron	p.W253L	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN			9	859	-			253					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.758G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190536	0.58017	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.22134	1.97;1.97;1.97	5.31	4.34	0.51931	Ion transport 2 (1);	0.273852	0.26522	N	0.023903	T	0.22166	0.0534	L	0.47016	1.485	0.80722	D	1	P;B;B;P	0.36990	0.577;0.327;0.352;0.577	B;B;B;B	0.37304	0.246;0.115;0.138;0.246	T	0.03717	-1.1010	10	0.27082	T	0.32	-9.8035	17.5464	0.87863	0.0:0.8658:0.1342:0.0	.	253;253;253;253	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	253;253;74;253	ENSP00000356403:W253L;ENSP00000356401:W253L;ENSP00000294725:W253L	ENSP00000294725:W253L	W	-	2	0	KCNT2	194665391	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.095000	0.71439	2.487000	0.83934	0.655000	0.94253	TGG		0.408	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	28	15	28	---	---	---	---
IL20	50604	broad.mit.edu	37	1	207040805	207040805	+	Splice_Site	SNP	T	T	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:207040805T>C	ENST00000367098.1	+	5	816		c.e5+2		IL20_ENST00000391930.2_Intron|IL20_ENST00000367096.3_Splice_Site			Q9UHF5	IL17B_HUMAN	interleukin 20						cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTTGAAAAGGTATATGCGACT	0.428																																						ENST00000367098.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.e5+2		interleukin 20							190.0	179.0	183.0					1																	207040805		2203	4300	6503	SO:0001630	splice_region_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207040805T>C	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.453+2T>C	1.37:g.207040805T>C						IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron				Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	5	816	+	Breast(84;0.201)							Q14CE5	Splice_Site	SNP	ENST00000367098.1	37		CCDS1470.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746147	0.30955	.	.	ENSG00000162891	ENST00000367098;ENST00000367096	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2456	0.54568	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL20	205107428	1.000000	0.71417	0.866000	0.34008	0.222000	0.24845	4.309000	0.59135	2.141000	0.66446	0.528000	0.53228	.		0.428	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	Intron	3	70	3	70	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:85533435G>A	ENST00000282111.3	+	9	1371	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	366					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAAGGTGGTGGCTGAGTGCAC	0.542																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1096-1098)Gct>Act		transcription factor 7-like 1 (T-cell specific, HMG-box)							135.0	120.0	125.0					2																	85533435		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533435G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1096G>A	2.37:g.85533435G>A	ENSP00000282111:p.Ala366Thr						p.A366T	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			9	1371	+			366					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1096G>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723047	0.89298	.	.	ENSG00000152284	ENST00000282111	D	0.98296	-4.85	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.76170	2.325	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.99851	1.1072	10	0.87932	D	0	.	16.1638	0.81739	0.0:0.0:1.0:0.0	.	366	Q9HCS4	TF7L1_HUMAN	T	366	ENSP00000282111:A366T	ENSP00000282111:A366T	A	+	1	0	TCF7L1	85386946	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.852000	0.99516	2.410000	0.81850	0.591000	0.81541	GCT		0.542	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	72	11	72	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171862744	171862744	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:171862744G>T	ENST00000431350.2	-	18	2221	c.1817C>A	c.(1816-1818)aCt>aAt	p.T606N	TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N|TLK1_ENST00000442919.2_Missense_Mutation_p.T558N			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCAAAATCAGTGATTTTGAT	0.363																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1672-1674)aCt>aAt		tousled-like kinase 1							129.0	122.0	124.0					2																	171862744		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171862744G>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1817C>A	2.37:g.171862744G>T	ENSP00000411099:p.Thr606Asn					TLK1_ENST00000431350.2_Missense_Mutation_p.T606N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N|TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N	p.T558N	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			18	2288	-			606			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1673C>A	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028661	0.93518	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000356075;ENST00000521943;ENST00000434911	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.17	5.17	0.71159	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	0.52075	0.1712	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.54302	-0.8314	10	0.87932	D	0	-29.4928	19.0797	0.93177	0.0:0.0:1.0:0.0	.	510;627;606	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	N	558;606;627;72;558;510	ENSP00000402165:T558N;ENSP00000411099:T606N;ENSP00000354089:T627N;ENSP00000428113:T558N;ENSP00000409222:T510N	ENSP00000348376:T72N	T	-	2	0	TLK1	171570990	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.810000	0.99221	2.583000	0.87209	0.461000	0.40582	ACT		0.363	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		6	59	6	59	---	---	---	---
STK25	10494	broad.mit.edu	37	2	242438194	242438194	+	Silent	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:242438194G>T	ENST00000316586.4	-	8	1126	c.777C>A	c.(775-777)ccC>ccA	p.P259P	STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000543554.1_Silent_p.P165P	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCTTGGCCGTGGGCCGCTGCA	0.617																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(775-777)ccC>ccA		serine/threonine kinase 25							114.0	104.0	108.0					2																	242438194		2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438194G>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.777C>A	2.37:g.242438194G>T						STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000543554.1_Silent_p.P165P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000478403.1_5'UTR	p.P259P	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	8	1126	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	259			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.777C>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	G	8.901	0.956408	0.18507	.	.	ENSG00000115694	ENST00000423004	T	0.32515	1.45	5.15	-0.0844	0.13690	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18085	-1.0348	7	0.87932	D	0	.	0.6769	0.00868	0.2716:0.2094:0.3229:0.1961	.	.	.	.	Q	141	ENSP00000404469:P141Q	ENSP00000404469:P141Q	P	-	2	0	STK25	242086867	0.250000	0.23951	0.976000	0.42696	0.879000	0.50718	-0.336000	0.07863	0.291000	0.22468	0.650000	0.86243	CCA		0.617	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		4	122	4	122	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R|SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTTCACTTCAGGCCCAACTT	0.383																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(1225-1227)cAg>cGg		SAC1 suppressor of actin mutations 1-like (yeast)							141.0	121.0	128.0					3																	45776852		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45776852A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1226A>G	3.37:g.45776852A>G	ENSP00000373713:p.Gln409Arg					SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	p.Q409R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	14	1430	+			409			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1226A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824629	0.71143	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.86	5.86	0.93980	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.52266	1.64	0.58432	D	0.999999	P;P;P	0.50443	0.83;0.935;0.692	B;P;B	0.55508	0.402;0.777;0.258	T	0.01524	-1.1333	10	0.31617	T	0.26	-3.0607	16.2612	0.82547	1.0:0.0:0.0:0.0	.	348;52;409	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	R	306;409;348;86	ENSP00000396387:Q306R;ENSP00000373713:Q409R;ENSP00000443373:Q348R;ENSP00000412883:Q86R	ENSP00000373713:Q409R	Q	+	2	0	SACM1L	45751856	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.962000	0.93254	2.244000	0.73946	0.477000	0.44152	CAG		0.383	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		3	80	3	80	---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:47884611C>G	ENST00000445061.1	+	9	1212	c.805C>G	c.(805-807)Cat>Gat	p.H269D	DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000446256.2_Missense_Mutation_p.H230D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	269						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGCAGTTCCATACTGTGGG	0.537																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(688-690)Cat>Gat		DEAH (Asp-Glu-Ala-His) box helicase 30							163.0	151.0	155.0					3																	47884611		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47884611C>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.805C>G	3.37:g.47884611C>G	ENSP00000405620:p.His269Asp					DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D	p.H230D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1260	+			269					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.688C>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846876	0.51164	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03124	4.06;4.05;4.06;4.04	5.26	5.26	0.73747	.	0.206113	0.42420	D	0.000710	T	0.06234	0.0161	L	0.46157	1.445	0.36256	D	0.854257	B;B	0.22604	0.072;0.056	B;B	0.20767	0.031;0.029	T	0.18555	-1.0333	10	0.66056	D	0.02	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	269;230	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	D	230;269;241;297	ENSP00000392601:H230D;ENSP00000405620:H269D;ENSP00000343442:H241D;ENSP00000394682:H297D	ENSP00000343442:H241D	H	+	1	0	DHX30	47859615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.451000	0.82905	0.591000	0.81541	CAT		0.537	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		56	143	56	143	---	---	---	---
ARL6	84100	broad.mit.edu	37	3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	69					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ACAGTGTTTGACATGTCAGGT	0.269																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(205-207)gAc>gGc		ADP-ribosylation factor-like 6							148.0	153.0	152.0					3																	97499479		2203	4295	6498	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499479A>G	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.206A>G	3.37:g.97499479A>G	ENSP00000419619:p.Asp69Gly					ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	4	683	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	69					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.206A>G	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596909	0.87055	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.042277	0.85682	D	0.000000	D	0.98858	0.9614	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99274	1.0894	10	0.87932	D	0	.	15.2838	0.73810	1.0:0.0:0.0:0.0	.	69	Q9H0F7	ARL6_HUMAN	G	69	ENSP00000419619:D69G;ENSP00000418740:D69G;ENSP00000337722:D69G;ENSP00000377756:D69G	ENSP00000337722:D69G	D	+	2	0	ARL6	98982169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.838000	0.92115	2.150000	0.67090	0.519000	0.50382	GAC		0.269	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		3	85	3	85	---	---	---	---
GK5	256356	broad.mit.edu	37	3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:141896383C>A	ENST00000392993.2	-	12	1235	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	362					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAACTTTTGGCCATTTTTTCA	0.333																																						ENST00000392993.2																			0				kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						c.(1084-1086)Gcc>Tcc		glycerol kinase 5 (putative)							117.0	124.0	122.0					3																	141896383		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141896383C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1084G>T	3.37:g.141896383C>A	ENSP00000418001:p.Ala362Ser						p.A362S	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN			12	1235	-			362					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.1084G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914354	0.92178	.	.	ENSG00000175066	ENST00000392993;ENST00000486459	D;D	0.86769	-2.17;-2.17	5.3	5.3	0.74995	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.95944	0.8949	10	0.87932	D	0	-12.9926	18.0879	0.89463	0.0:1.0:0.0:0.0	.	362	Q6ZS86	GLPK5_HUMAN	S	362;16	ENSP00000418001:A362S;ENSP00000420593:A16S	ENSP00000418001:A362S	A	-	1	0	GK5	143379073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.532000	0.73825	2.631000	0.89168	0.585000	0.79938	GCC		0.333	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		13	107	13	107	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:6107489C>T	ENST00000282924.5	-	3	820	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R112Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	112	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGCAGCCGCTGCAGCTC	0.716																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(334-336)cGg>cAg		janus kinase and microtubule interacting protein 1							12.0	13.0	13.0					4																	6107489		2093	4139	6232	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107489C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.335G>A	4.37:g.6107489C>T	ENSP00000282924:p.Arg112Gln					JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	p.R112Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	784	-			112			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.335G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898198	0.91962	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.37752	1.18;1.18;1.18	4.6	3.73	0.42828	.	0.000000	0.64402	D	0.000004	T	0.58680	0.2139	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	P;P;D	0.81914	0.786;0.566;0.995	T	0.58775	-0.7577	10	0.27082	T	0.32	.	13.1875	0.59691	0.1608:0.8392:0.0:0.0	.	112;112;112	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	Q	112	ENSP00000386711:R112Q;ENSP00000282924:R112Q;ENSP00000386925:R112Q	ENSP00000282924:R112Q	R	-	2	0	JAKMIP1	6158390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.334000	0.79224	1.009000	0.39289	0.484000	0.47621	CGG		0.716	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	23	6	23	---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2747711	2747711	+	Silent	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:2747711G>T	ENST00000382611.6	-	4	1631	c.1383C>A	c.(1381-1383)acC>acA	p.T461T	IRX2_ENST00000302057.5_Silent_p.T461T|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	461					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCAACCACGGTGCAGCCCT	0.652																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1381-1383)acC>acA		iroquois homeobox 2							46.0	43.0	44.0					5																	2747711		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2747711G>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1383C>A	5.37:g.2747711G>T						IRX2_ENST00000302057.5_Silent_p.T461T	p.T461T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	4	1631	-			461					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.1383C>A	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			4	71	4	71	---	---	---	---
PPIC	5480	broad.mit.edu	37	5	122361577	122361577	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:122361577C>A	ENST00000306442.4	-	4	527	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	138	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTGTCAGGCCCAGCGTTGGCC	0.493																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(412-414)Ggg>Tgg		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						101.0	81.0	88.0					5																	122361577		2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361577C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.412G>T	5.37:g.122361577C>A	ENSP00000303057:p.Gly138Trp						p.G138W	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	527	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	138			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.412G>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078003	0.94000	.	.	ENSG00000168938	ENST00000306442	T	0.48522	0.81	6.02	6.02	0.97574	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89758	0.3945	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	138	P45877	PPIC_HUMAN	W	138	ENSP00000303057:G138W	ENSP00000303057:G138W	G	-	1	0	PPIC	122389476	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GGG		0.493	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		4	47	4	47	---	---	---	---
RNASET2	8635	broad.mit.edu	37	6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:167343248T>G	ENST00000508775.1	-	9	1118	c.599A>C	c.(598-600)gAa>gCa	p.E200A	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RNASET2_ENST00000366855.6_Missense_Mutation_p.E162A	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	200					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GAGGCACAGTTCTATCTGACC	0.493																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.(484-486)gAa>gCa		ribonuclease T2							90.0	91.0	91.0					6																	167343248		2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343248T>G	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.599A>C	6.37:g.167343248T>G	ENSP00000426455:p.Glu200Ala					RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A	p.E162A			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1160	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	200					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.485A>C	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457421	0.43634	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.57	4.57	0.56435	.	0.052898	0.64402	D	0.000001	T	0.74673	0.3747	L	0.56396	1.775	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.72666	-0.4224	10	0.18710	T	0.47	-14.5902	11.9105	0.52737	0.0:0.0:0.0:1.0	.	250;200	C9JIU8;O00584	.;RNT2_HUMAN	A	162;200;250;200;200	ENSP00000424947:E162A;ENSP00000426455:E200A;ENSP00000422846:E200A;ENSP00000426059:E200A	ENSP00000424947:E162A	E	-	2	0	RNASET2	167263238	0.998000	0.40836	0.880000	0.34516	0.027000	0.11550	4.373000	0.59537	1.682000	0.51000	0.533000	0.62120	GAA		0.493	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		4	161	4	161	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82544746	82544746	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:82544746G>T	ENST00000333891.9	-	7	12893	c.12556C>A	c.(12556-12558)Caa>Aaa	p.Q4186K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTGCTTTTGATAAAGTATG	0.353																																						ENST00000333891.9																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12556-12558)Caa>Aaa		piccolo presynaptic cytomatrix protein							81.0	77.0	79.0					7																	82544746		1866	4109	5975	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544746G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12556C>A	7.37:g.82544746G>T	ENSP00000334319:p.Gln4186Lys					PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K	p.Q4186K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			7	12893	-									Missense_Mutation	SNP	ENST00000333891.9	37	c.12556C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304746	0.60305	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.53	5.53	0.82687	.	.	.	.	.	T	0.42291	0.1196	M	0.65498	2.005	0.54753	D	0.99998	D;D;D	0.76494	0.979;0.997;0.999	P;D;D	0.66716	0.501;0.946;0.946	T	0.24977	-1.0145	9	0.87932	D	0	.	19.4561	0.94889	0.0:0.0:1.0:0.0	.	4117;4186;4186	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4186;4186;906	ENSP00000334319:Q4186K;ENSP00000388393:Q4186K	ENSP00000334319:Q4186K	Q	-	1	0	PCLO	82382682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	2.596000	0.87737	0.460000	0.39030	CAA		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	98	4	98	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91621525	91621525	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441G>T	c.(439-441)agG>agT	p.R147S	AKAP9_ENST00000356239.3_Splice_Site_p.R135S|AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000394564.1_Splice_Site_p.R135S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(439-441)agG>agT		A kinase (PRKA) anchor protein 9							90.0	107.0	101.0					7																	91621525		2203	4295	6498	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91621525G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.441+1G>T	7.37:g.91621525G>T						AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S	p.R147S			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	666	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		147					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.441G>T		.	.	.	.	.	.	.	.	.	.	G	17.32	3.359996	0.61403	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.41	5.41	0.78517	.	0.000000	0.36815	N	0.002391	T	0.34571	0.0902	M	0.63843	1.955	0.49582	D	0.999809	D;D;D;P	0.67145	0.989;0.989;0.996;0.925	P;P;P;P	0.61658	0.787;0.787;0.892;0.691	T	0.02093	-1.1215	10	0.66056	D	0.02	.	19.5512	0.95322	0.0:0.0:1.0:0.0	.	135;135;147;135	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	S	135;147;147;147;147;135	ENSP00000348573:R135S;ENSP00000351922:R147S;ENSP00000350813:R147S;ENSP00000378065:R135S	ENSP00000348573:R135S	R	+	3	2	AKAP9	91459461	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.055000	0.64282	2.685000	0.91497	0.650000	0.86243	AGG		0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Missense_Mutation	16	128	16	128	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:117400554G>T	ENST00000160373.3	-	10	3198	c.3107C>A	c.(3106-3108)aCt>aAt	p.T1036N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTATTGCAAGTCACGTCTTC	0.453																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3106-3108)aCt>aAt		cortactin binding protein 2							170.0	150.0	157.0					7																	117400554		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400554G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3107C>A	7.37:g.117400554G>T	ENSP00000160373:p.Thr1036Asn						p.T1036N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3198	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1036					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3107C>A	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	8.897|8.897|8.897	0.955377|0.955377|0.955377	0.18507|0.18507|0.18507	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000435233;ENST00000416239|ENST00000160373	.|.|T	.|.|0.66815	.|.|-0.23	5.72|5.72|5.72	3.88|3.88|3.88	0.44766|0.44766|0.44766	.|.|.	.|.|0.408889	.|.|0.27151	.|.|N	.|.|0.020687	T|T|T	0.65238|0.65238|0.65238	0.2672|0.2672|0.2672	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999998|0.999998|0.999998	.|.|P	.|.|0.43938	.|.|0.822	.|.|B	.|.|0.34824	.|.|0.19	T|T|T	0.62756|0.62756|0.62756	-0.6787|-0.6787|-0.6787	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-1.2873|-1.2873|-1.2873	15.3094|15.3094|15.3094	0.74019|0.74019|0.74019	0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562	.|.|.	.|.|1036	.|.|Q8WZ74	.|.|CTTB2_HUMAN	E|I|N	523|50;32|1036	.|.|ENSP00000160373:T1036N	.|.|ENSP00000160373:T1036N	D|L|T	-|-|-	3|1|2	2|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187790|117187790|117187790	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.019000|0.019000|0.019000	0.09904|0.09904|0.09904	4.653000|4.653000|4.653000	0.61462|0.61462|0.61462	0.852000|0.852000|0.852000	0.35287|0.35287|0.35287	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CTT|ACT		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		51	78	51	78	---	---	---	---
NUDCD1	84955	broad.mit.edu	37	8	110308624	110308624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:110308624C>A	ENST00000239690.4	-	3	822	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121*|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCCCATTTTTCAGAAGCGCTA	0.388																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(448-450)Gaa>Taa		NudC domain containing 1							210.0	203.0	205.0					8																	110308624		2203	4300	6503	SO:0001587	stop_gained	84955							g.chr8:110308624C>A	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.448G>T	8.37:g.110308624C>A	ENSP00000239690:p.Glu150*					NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121*	p.E150*	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		3	822	-	all_neural(195;0.219)		150						Nonsense_Mutation	SNP	ENST00000239690.4	37	c.448G>T	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	39	7.886017	0.98542	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	.	.	.	5.84	5.84	0.93424	.	0.353403	0.31290	N	0.007916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.5933	19.1348	0.93422	0.0:1.0:0.0:0.0	.	.	.	.	X	150;121	.	ENSP00000239690:E150X	E	-	1	0	NUDCD1	110377800	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.762000	0.47597	2.779000	0.95612	0.591000	0.81541	GAA		0.388	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		4	118	4	118	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139209802	139209802	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:139209802C>T	ENST00000395297.1	-	8	950	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	260										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGATCACCAGGAAGTGGA	0.617										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(778-780)ctG>ctA		family with sequence similarity 135, member B							63.0	73.0	70.0					8																	139209802		2144	4264	6408	SO:0001819	synonymous_variant	51059							g.chr8:139209802C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.780G>A	8.37:g.139209802C>T		HNSCC(54;0.14)					p.L260L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	950	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		260					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.780G>A	CCDS6375.2																																																																																				0.617	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	69	14	69	---	---	---	---
FOCAD	54914	broad.mit.edu	37	9	20978420	20978420	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:20978420G>C	ENST00000380249.1	+	39	4708	c.4344G>C	c.(4342-4344)ttG>ttC	p.L1448F	FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1448						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATTGGGCTTGTGGGTGACAC	0.458																																						ENST00000380249.1																			0											c.(4342-4344)ttG>ttC		focadhesin							84.0	76.0	78.0					9																	20978420		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20978420G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4344G>C	9.37:g.20978420G>C	ENSP00000369599:p.Leu1448Phe					FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F	p.L1448F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			39	4708	+			1448					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4344G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704231	0.48412	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24723	1.84;1.84	6.06	2.26	0.28386	.	0.718800	0.14443	N	0.319248	T	0.24890	0.0604	L	0.47716	1.5	0.35516	D	0.801048	P	0.42518	0.782	B	0.43445	0.42	T	0.18840	-1.0324	10	0.29301	T	0.29	-8.7802	9.7398	0.40411	0.2649:0.0:0.7351:0.0	.	1448	Q5VW36	K1797_HUMAN	F	1448	ENSP00000369599:L1448F;ENSP00000344307:L1448F	ENSP00000344307:L1448F	L	+	3	2	KIAA1797	20968420	1.000000	0.71417	0.985000	0.45067	0.817000	0.46193	1.232000	0.32636	0.168000	0.19655	-0.768000	0.03414	TTG		0.458	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		9	26	9	26	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533476	533476	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:533476C>T	ENST00000451590.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000417302.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	143					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGAGGTCTCGATGTAGGGG	0.677		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(427-429)Gag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						119.0	115.0	117.0					11																	533476		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533476C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.427G>A	11.37:g.533476C>T	ENSP00000407586:p.Glu143Lys	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K	p.E143K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	614	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	143					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.427G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527807	0.64860	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.97265	3.97	0.80722	D	1	D;D	0.58620	0.983;0.973	P;P	0.52672	0.581;0.706	D	0.92839	0.6287	10	0.72032	D	0.01	.	10.5508	0.45087	0.0:0.9029:0.0:0.0971	.	143;143	P01112-2;P01112	.;RASH_HUMAN	K	143	ENSP00000380722:E143K;ENSP00000380723:E143K;ENSP00000407586:E143K;ENSP00000388246:E143K;ENSP00000309845:E143K	ENSP00000309845:E143K	E	-	1	0	HRAS	523476	1.000000	0.71417	0.379000	0.26080	0.177000	0.22998	5.932000	0.70121	1.997000	0.58415	0.561000	0.74099	GAG		0.677	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		24	127	24	127	---	---	---	---
PIDD1	55367	broad.mit.edu	37	11	803450	803450	+	Silent	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:803450G>A	ENST00000347755.5	-	3	574	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	PIDD_ENST00000411829.2_Silent_p.L145L|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CGCATCTGCAGGACACAGGCC	0.657																																						ENST00000347755.5																			0											c.(433-435)Ctg>Ttg		p53-induced death domain protein							67.0	70.0	69.0					11																	803450		2203	4299	6502	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803450G>A																												ENST00000347755.5:c.433C>T	11.37:g.803450G>A						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L	p.L145L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	574	-			145						Silent	SNP	ENST00000347755.5	37	c.433C>T	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			4	85	4	85	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:63137867G>T	ENST00000279178.3	+	1	588	c.339G>T	c.(337-339)atG>atT	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(337-339)atG>atT		solute carrier family 22 (organic anion transporter), member 9							126.0	105.0	112.0					11																	63137867		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137867G>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.339G>T	11.37:g.63137867G>T	ENSP00000279178:p.Met113Ile					SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			1	588	+			113					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.339G>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	g	4.591	0.109847	0.08780	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.62639	0.57;0.01	3.3	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.397771	0.26265	N	0.025364	T	0.31389	0.0795	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	10.4064	0.44260	0.7628:0.0:0.2372:0.0	.	113	Q8IVM8	S22A9_HUMAN	I	113	ENSP00000311527:M113I;ENSP00000279178:M113I	ENSP00000279178:M113I	M	+	3	0	SLC22A9	62894443	0.000000	0.05858	0.572000	0.28498	0.107000	0.19398	-3.863000	0.00347	-0.924000	0.03780	0.134000	0.15878	ATG		0.522	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		4	102	4	102	---	---	---	---
SYT12	91683	broad.mit.edu	37	11	66812168	66812168	+	Silent	SNP	C	C	T	rs371812825		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:66812168C>T	ENST00000393946.2	+	9	2104	c.942C>T	c.(940-942)aaC>aaT	p.N314N	SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	314	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCTGGACCAACGACAAGACCA	0.657																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(940-942)aaC>aaT		synaptotagmin XII							102.0	84.0	90.0					11																	66812168		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66812168C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.942C>T	11.37:g.66812168C>T						SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N	p.N314N			Q8IV01	SYT12_HUMAN			9	2104	+			314			C2 2.			Silent	SNP	ENST00000393946.2	37	c.942C>T	CCDS8154.1																																																																																				0.657	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		26	67	26	67	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375336	101375336	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:101375336G>T	ENST00000344327.3	-	2	788	c.364C>A	c.(364-366)Cac>Aac	p.H122N	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	122					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGAGTGAGTGGCATTCTTCT	0.458																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(364-366)Cac>Aac		transient receptor potential cation channel, subfamily C, member 6							156.0	137.0	144.0					11																	101375336		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375336G>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.364C>A	11.37:g.101375336G>T	ENSP00000340913:p.His122Asn					TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N	p.H122N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	788	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	122					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.364C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036225	0.02029	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.96	1.83	0.25207	Ankyrin repeat-containing domain (4);	0.453672	0.25668	N	0.029088	T	0.37705	0.1013	N	0.13235	0.315	0.09310	N	1	B;B;B	0.13594	0.007;0.003;0.008	B;B;B	0.21360	0.012;0.03;0.034	T	0.13953	-1.0490	10	0.23891	T	0.37	-16.2984	5.2052	0.15287	0.12:0.316:0.4555:0.1086	.	122;122;122	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	N	122	ENSP00000340913:H122N;ENSP00000435574:H122N;ENSP00000343672:H122N;ENSP00000353687:H122N	ENSP00000340913:H122N	H	-	1	0	TRPC6	100880546	0.765000	0.28485	0.047000	0.18901	0.151000	0.21798	1.943000	0.40253	0.407000	0.25591	-0.882000	0.02950	CAC		0.458	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		4	116	4	116	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53878999	53878999	+	Splice_Site	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCAAAGGACCTAGGGATGAG	0.542																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.e7-1		mitogen-activated protein kinase kinase kinase 12							106.0	93.0	98.0					12																	53878999		2203	4300	6503	SO:0001630	splice_region_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53878999C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.882-1G>C	12.37:g.53878999C>G						MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site		NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			7	1107	-								B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Splice_Site	SNP	ENST00000267079.2	37		CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851489	0.51270	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7353	0.85445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K12	52165266	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	7.794000	0.85869	2.319000	0.78375	0.561000	0.74099	.		0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	Intron	23	50	23	50	---	---	---	---
SHMT2	6472	broad.mit.edu	37	12	57626237	57626237	+	Splice_Site	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:57626237C>T	ENST00000328923.3	+	6	1048	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000393827.4_Missense_Mutation_p.P103L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000393827.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(307-309)cCc>cTc		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						102.0	101.0	101.0					12																	57626237		2203	4300	6503	SO:0001630	splice_region_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626237C>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.595-1C>T	12.37:g.57626237C>T						SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000328923.3_Splice_Site_p.P199L	p.P103L			P34897	GLYM_HUMAN			5	564	+			199					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.308C>T	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762605	0.49574	.	.	ENSG00000182199	ENST00000328923;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T	0.42131	1.51;0.98;1.51;1.51;1.51;1.51;0.98	4.82	4.82	0.62117	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.061048	0.64402	D	0.000004	T	0.48003	0.1476	M	0.64170	1.965	0.80722	D	1	P;P;P;D	0.53151	0.505;0.81;0.505;0.958	B;P;B;B	0.47402	0.17;0.546;0.105;0.377	T	0.40384	-0.9566	10	0.27082	T	0.32	-3.4385	17.2132	0.86936	0.0:1.0:0.0:0.0	.	208;103;130;199	B4DWA7;B4DLV4;B4DP88;P34897	.;.;.;GLYM_HUMAN	L	199;38;178;178;178;178;103	ENSP00000333667:P199L;ENSP00000450930:P38L;ENSP00000406881:P178L;ENSP00000452419:P178L;ENSP00000452404:P178L;ENSP00000413770:P178L;ENSP00000377413:P103L	ENSP00000333667:P199L	P	+	2	0	SHMT2	55912504	0.997000	0.39634	0.991000	0.47740	0.510000	0.34073	3.731000	0.55013	2.667000	0.90743	0.563000	0.77884	CCC		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	43	105	43	105	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70974869	70974869	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:70974869G>T	ENST00000261266.5	-	8	1900	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K	PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K|PTPRB_ENST00000334414.6_Missense_Mutation_p.T842K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	624	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACTGTTGTTACCACCAC	0.463																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2524-2526)aCa>aAa		protein tyrosine phosphatase, receptor type, B							109.0	111.0	110.0					12																	70974869		1953	4148	6101	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974869G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1871C>A	12.37:g.70974869G>T	ENSP00000261266:p.Thr624Lys					PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000261266.5_Missense_Mutation_p.T624K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K	p.T842K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		10	2569	-	Renal(347;0.236)		624			Fibronectin type-III 10.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2525C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345641	0.82022	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095554	0.64402	D	0.000001	T	0.72518	0.3470	M	0.70275	2.135	0.80722	D	1	D;D;P;P;D;D;D	0.58620	0.957;0.957;0.933;0.928;0.979;0.983;0.957	P;P;D;P;P;D;P	0.64687	0.835;0.877;0.928;0.8;0.877;0.925;0.907	T	0.72757	-0.4197	10	0.62326	D	0.03	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	534;624;721;841;842;624;842	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	842;534;842;842;624;534;624;841;721	ENSP00000334928:T842K;ENSP00000393028:T534K;ENSP00000448058:T842K;ENSP00000438927:T624K;ENSP00000447302:T534K;ENSP00000261266:T624K;ENSP00000448349:T841K;ENSP00000446982:T721K	ENSP00000261266:T624K	T	-	2	0	PTPRB	69261136	1.000000	0.71417	0.492000	0.27490	0.363000	0.29612	9.007000	0.93597	2.781000	0.95711	0.650000	0.86243	ACA		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	137	4	137	---	---	---	---
CLYBL	171425	broad.mit.edu	37	13	100518573	100518573	+	Silent	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr13:100518573C>A	ENST00000376360.1	+	6	741	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CLYBL_ENST00000444838.2_Silent_p.L204L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376355.3_Silent_p.L204L			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGGTCTCCAAGCCATAG	0.478																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(610-612)ctC>ctA		citrate lyase beta like							100.0	100.0	100.0					13																	100518573		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518573C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.714C>A	13.37:g.100518573C>A						CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L	p.L204L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			5	643	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		238					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.612C>A	CCDS32002.1																																																																																				0.478	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			28	62	28	62	---	---	---	---
LOXL1	4016	broad.mit.edu	37	15	74219535	74219535	+	Silent	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:74219535G>C	ENST00000261921.7	+	1	737	c.411G>C	c.(409-411)acG>acC	p.T137T	LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	137					extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.T137T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGACAGCACGGGCATGGCCC	0.751																																						ENST00000261921.7																			1	Substitution - coding silent(1)	p.T137T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(409-411)acG>acC		lysyl oxidase-like 1							10.0	13.0	12.0					15																	74219535		2090	4089	6179	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74219535G>C	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.411G>C	15.37:g.74219535G>C						LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA	p.T137T	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			1	737	+			137					Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.411G>C	CCDS10253.1																																																																																				0.751	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		3	56	3	56	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78217290	78217290	+	lincRNA	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:78217290G>A	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							CCCCAGGTGAGTGGCAACCAC	0.527																																						ENST00000567226.1																			0																																																			645752							g.chr15:78217290G>A																													15.37:g.78217290G>A														0	212	-									RNA	SNP	ENST00000565869.1	37																																																																																						0.527	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	102	6	102	---	---	---	---
CEMIP	57214	broad.mit.edu	37	15	81221373	81221373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:81221373C>A	ENST00000394685.3	+	21	2889	c.2470C>A	c.(2470-2472)Ccg>Acg	p.P824T	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T			Q8WUJ3	CEMIP_HUMAN		824					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGAACCTTCCCGTATGACGA	0.517																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2470-2472)Ccg>Acg		KIAA1199							133.0	123.0	126.0					15																	81221373		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81221373C>A																												ENST00000394685.3:c.2470C>A	15.37:g.81221373C>A	ENSP00000378177:p.Pro824Thr					KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T	p.P824T			Q8WUJ3	K1199_HUMAN			21	2889	+			824					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2470C>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134172	0.56828	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.72942	-0.7;-0.7;-0.7	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.79805	2.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84819	0.0795	10	0.41790	T	0.15	-23.8256	18.2156	0.89884	0.0:1.0:0.0:0.0	.	824	Q8WUJ3	K1199_HUMAN	T	824	ENSP00000220244:P824T;ENSP00000378177:P824T;ENSP00000348583:P824T	ENSP00000220244:P824T	P	+	1	0	KIAA1199	79008428	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	6.923000	0.75817	2.518000	0.84900	0.655000	0.94253	CCG		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			4	71	4	71	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50327346	50327346	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr16:50327346G>T	ENST00000394697.2	+	6	1109	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C			P51828	ADCY7_HUMAN	adenylate cyclase 7	257					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CAAGGAGCATGGTGACCGTCG	0.582																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(769-771)Ggt>Tgt		adenylate cyclase 7	Bromocriptine(DB01200)						139.0	109.0	119.0					16																	50327346		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50327346G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.769G>T	16.37:g.50327346G>T	ENSP00000378187:p.Gly257Cys					ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C	p.G257C			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	6	1109	+		all_cancers(37;0.0127)	257					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.769G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288137	0.40494	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81739	-1.01;-1.53;-1.04;-1.53	5.18	-3.13	0.05266	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.914272	0.09026	U	0.859396	T	0.77039	0.4072	L	0.28274	0.84	0.24484	N	0.994332	B;D	0.57571	0.003;0.98	B;P	0.61003	0.004;0.882	T	0.67063	-0.5765	10	0.52906	T	0.07	.	5.9544	0.19265	0.5533:0.2839:0.1628:0.0	.	257;257	P51828;F5H4D1	ADCY7_HUMAN;.	C	257	ENSP00000445046:G257C;ENSP00000378187:G257C;ENSP00000437788:G257C;ENSP00000254235:G257C	ENSP00000254235:G257C	G	+	1	0	ADCY7	48884847	0.884000	0.30299	0.016000	0.15963	0.189000	0.23516	1.966000	0.40481	-0.331000	0.08501	-0.140000	0.14226	GGT		0.582	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			5	107	5	107	---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46048774	46048774	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:46048774G>T	ENST00000338399.4	+	2	158		c.e2+1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AAGCTGCTCGGTAGGAGGGGG	0.672																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e2+1		CDK5 regulatory subunit associated protein 3							19.0	20.0	20.0					17																	46048774		2044	4168	6212	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46048774G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.52+1G>T	17.37:g.46048774G>T						CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA		NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			2	236	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37		CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417635	0.83449	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2516	0.60055	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43403773	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.463000	0.90377	2.213000	0.71641	0.561000	0.74099	.		0.672	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	8	17	8	17	---	---	---	---
QTRT1	81890	broad.mit.edu	37	19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:10812880A>G	ENST00000250237.5	+	3	411	c.401A>G	c.(400-402)aAt>aGt	p.N134S	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	134					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TACGACGGCAATGAGACCCTG	0.637																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(400-402)aAt>aGt		queuine tRNA-ribosyltransferase 1							53.0	55.0	54.0					19																	10812880		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10812880A>G	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.401A>G	19.37:g.10812880A>G	ENSP00000250237:p.Asn134Ser					QTRT1_ENST00000585885.1_3'UTR	p.N134S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		3	411	+			134					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.401A>G	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	A	2.192	-0.385148	0.04966	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	5.37	1.86	0.25419	.	0.717075	0.12561	U	0.458192	T	0.02970	0.0088	N	0.00013	-2.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.02654	T	1	-4.3628	8.0729	0.30699	0.729:0.1857:0.0854:0.0	.	134	Q9BXR0	TGT_HUMAN	S	134	.	ENSP00000250237:N134S	N	+	2	0	QTRT1	10673880	0.015000	0.18098	0.007000	0.13788	0.869000	0.49853	2.523000	0.45580	0.310000	0.22990	-0.450000	0.05554	AAT		0.637	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		25	58	25	58	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:38643547G>A	ENST00000222345.6	+	13	4110	c.3601G>A	c.(3601-3603)Ggc>Agc	p.G1201S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1201					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGTCCAGCGGCGACTCCTC	0.662																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3601-3603)Ggc>Agc		signal-induced proliferation-associated 1 like 3							108.0	101.0	103.0					19																	38643547		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643547G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3601G>A	19.37:g.38643547G>A	ENSP00000222345:p.Gly1201Ser						p.G1201S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4110	+			1201					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3601G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536527	0.65085	.	.	ENSG00000105738	ENST00000222345	T	0.42513	0.97	5.2	5.2	0.72013	.	0.534308	0.18211	N	0.148173	T	0.38612	0.1047	L	0.46157	1.445	0.51767	D	0.999936	B	0.22541	0.071	B	0.16289	0.015	T	0.14227	-1.0480	10	0.38643	T	0.18	-35.8173	15.6558	0.77133	0.0:0.0:1.0:0.0	.	1201	O60292	SI1L3_HUMAN	S	1201	ENSP00000222345:G1201S	ENSP00000222345:G1201S	G	+	1	0	SIPA1L3	43335387	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.505000	0.66981	2.430000	0.82344	0.467000	0.42956	GGC		0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	119	6	119	---	---	---	---
LUZP4	51213	broad.mit.edu	37	X	114541233	114541233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:114541233C>T	ENST00000371920.3	+	4	813	c.806C>T	c.(805-807)aCt>aTt	p.T269I	LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	269						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAGAGAT	0.468																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(805-807)aCt>aTt		leucine zipper protein 4							112.0	99.0	103.0					X																	114541233		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541233C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.806C>T	X.37:g.114541233C>T	ENSP00000360988:p.Thr269Ile					LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	p.T269I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	813	+			269					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.806C>T	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029920	0.35797	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.69	-7.38	0.01407	.	2.510280	0.02048	N	0.049818	T	0.59514	0.2199	L	0.27053	0.805	0.09310	N	1	B;B	0.20550	0.046;0.041	B;B	0.17722	0.014;0.019	T	0.46359	-0.9197	10	0.72032	D	0.01	.	0.1785	0.00121	0.3185:0.2167:0.2251:0.2397	.	187;269	B3KSD6;Q9P127	.;LUZP4_HUMAN	I	187;269	ENSP00000411212:T187I;ENSP00000360988:T269I	ENSP00000360988:T269I	T	+	2	0	LUZP4	114447489	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-3.678000	0.00395	-2.832000	0.00339	0.284000	0.19432	ACT		0.468	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		49	21	49	21	---	---	---	---
LHFPL3	375612	broad.mit.edu	37	7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:104377297delA	ENST00000401970.2	+	2	701	c.579delA	c.(577-579)gcafs	p.A193fs	LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	207						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CATTTCTAGCATTTGTGCTTG	0.448																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(619-621)gcafs		lipoma HMGIC fusion partner-like 3							72.0	71.0	71.0					7																	104377297		1939	4159	6098	SO:0001589	frameshift_variant	375612					integral to membrane		g.chr7:104377297delA	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.579delA	7.37:g.104377297delA	ENSP00000385374:p.Ala193fs					LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs	p.A207fs			Q86UP9	LHPL3_HUMAN			4	745	+			193					A1L383|A4D0Q5	Frame_Shift_Del	DEL	ENST00000401970.2	37	c.621delA																																																																																					0.448	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		9	12	9	12	---	---	---	---
