#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
PDZD7	79955	broad.mit.edu	37	10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	369						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGTCTGCATGGCTGTGTCCGC	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370215.3	1.000000	0.290000	1.000000	0.550000	0.940000	0.827207	0.940000	1.000000																										0				22						c.(1105-1107)gCc>gTc		PDZ domain containing 7							5.0	7.0	6.0					10																	102778797		2054	4067	6121	SO:0001583	missense	79955	2	116480	26				g.chr10:102778797G>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1106C>T	chr10.hg19:g.102778797G>A	ENSP00000359234:p.Ala369Val	0		OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369		p.A369V	NM_024895.4	NP_079171.1	0	1	1	1.994749	Q9H5P4	PDZD7_HUMAN		8	1331	-			D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	0	1	hg19	c.1106C>T	CCDS31269.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.397005	0.96009	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.14266	2.52	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.457692	0.22908	N	0.054180	T	0.37183	0.0994	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	T	0.03761	-1.1006	10	0.48119	T	0.1	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	369;369	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	V	369	ENSP00000359234:A369V	ENSP00000359234:A369V	A	-	2	0	0	PDZD7	102768787	102768787	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	8.990000	0.93510	2.433000	0.82419	0.561000	0.74099	GCC	0.093199		TCGA-HZ-8002-01A-11D-2201-08	0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	0	0	0	2	2	2	2	0	0	0	0	16	16	16	15	1	2	-8.309006	1	0.100000	NM_024895		0	3	2	0	59	53	0		1			0	0	16	0	0	7.725786e-01	0	0	0	0	0	0	3	59
ADARB2	105	broad.mit.edu	37	10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	289	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.G289R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TAGCGCAGCCCGGCGCGCAGG	0.771																																						ENST00000381312.1	1.000000	0.600000	1.000000	0.950000	0.990000	0.962344	0.990000	1.000000																										1	Substitution - Missense(1)	p.G289R(1)	skin(1)	41						c.(865-867)Ggg>Agg		adenosine deaminase, RNA-specific, B2 (non-functional)							3.0	3.0	3.0					10																	1405435		1713	3548	5261	SO:0001583	missense	105	0	0					g.chr10:1405435C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.865G>A	chr10.hg19:g.1405435C>T	ENSP00000370713:p.Gly289Arg	0					RP11-398B16.2_ENST00000432987.1_RNA	p.G289R	NM_018702.3	NP_061172.1	0	1	1	1.994091	Q9NS39	RED2_HUMAN		3	1190	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	0	1	hg19	c.865G>A	CCDS7058.1	1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869534	0.72065	.	.	ENSG00000185736	ENST00000381312	T	0.76448	-1.02	5.24	5.24	0.73138	5.24	5.24	0.73138	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87900	0.2690	10	0.87932	D	0	-37.0365	18.8514	0.92232	0.0:1.0:0.0:0.0	.	289	Q9NS39	RED2_HUMAN	R	289	ENSP00000370713:G289R	ENSP00000370713:G289R	G	-	1	0	0	ADARB2	1395435	1395435	1.000000	0.71417	0.875000	0.34327	0.009000	0.06853	7.681000	0.84073	2.445000	0.82738	0.561000	0.74099	GGG	0.093199		TCGA-HZ-8002-01A-11D-2201-08	0.771	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1	2	2	2	2	0	0	0	0	11	11	11	10	1	2	-10.898560	1	0.100000	NM_018702		0	5	5	0	52	51	0		1			0	0	11	0	0	9.376066e-01	0	0	0	0	0	0	5	52
MPP7	143098	broad.mit.edu	37	10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000375732.1	-	17	1865	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000337532.5_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	536	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAAGATGACCATATTGACTT	0.318																																						ENST00000375732.1	1.000000	0.370000	1.000000	0.640000	0.990000	0.869253	0.990000	1.000000																										0				22						c.(1606-1608)Ggt>Tgt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							58.0	58.0	58.0					10																	28343119		2203	4299	6502	SO:0001583	missense	143098	0	0					g.chr10:28343119C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1606G>T	chr10.hg19:g.28343119C>A	ENSP00000364884:p.Gly536Cys	0					MPP7_ENST00000540098.1_Missense_Mutation_p.G536C|MPP7_ENST00000337532.5_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C	p.G536C			0	1	1	1.994091	Q5T2T1	MPP7_HUMAN		17	1865	-			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	0	1	hg19	c.1606G>T	CCDS7158.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655017	0.67472	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.18	5.18	0.71444	5.18	5.18	0.71444	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.096174	0.64402	D	0.000001	T	0.66790	0.2825	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71879	-0.4459	10	0.66056	D	0.02	.	13.0486	0.58942	0.0:0.9226:0.0:0.0774	.	536	Q5T2T1	MPP7_HUMAN	C	536;536;536;536;297	ENSP00000364884:G536C;ENSP00000337907:G536C;ENSP00000438693:G536C;ENSP00000364871:G536C;ENSP00000398319:G297C	ENSP00000337907:G536C	G	-	1	0	0	MPP7	28383125	28383125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	2.395000	0.81488	0.591000	0.81541	GGT	0.093199		TCGA-HZ-8002-01A-11D-2201-08	0.318	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	1	0	0	2	2	2	2	0	0	0	0	26	26	26	26	1	2	-4.123378	1	0.100000	NM_173496		0	4	3	0	71	69	0		1	0		0	0	26	0	0	8.824205e-01	1.646381e-01	0	0	0	11	0	4	71
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A	rs369691816		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000338354.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	0.620000	0.240000	0.520000	0.310000	0.400000	0.422912	0.400000	0.400000																										0				72						c.(6679-6681)Gac>Aac		deleted in malignant brain tumors 1		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4252		0,0,2126	235.0	222.0	226.0		4795,6679,6649	-11.1	0.0	10		226	2,8494		0,2,4246	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	23,23,23	0,2,6372	AA,AG,GG		0.0235,0.0,0.0157	benign,benign,benign	1599/1786,2227/2414,2217/2404	124399679	2,12746	2126	4248	6374	SO:0001583	missense	1755	6	121092	43				g.chr10:124399679G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6679G>A	chr10.hg19:g.124399679G>A	ENSP00000342210:p.Asp2227Asn	0					DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N	p.D2227N			0	1	1	1.994749	Q9UGM3	DMBT1_HUMAN		52	6785	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	0	1	hg19	c.6679G>A		0	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252436	0.22880	0.0	2.35E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	-11.1	0.00147	5.53	-11.1	0.00147	Zona pellucida sperm-binding protein (3);	2.913890	0.01909	N	0.039733	T	0.58637	0.2136	N	0.10809	0.05	0.09310	N	1	B;B;B;B;B;B;B	0.24963	0.001;0.115;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0;0.0;0.001	T	0.53655	-0.8408	10	0.08599	T	0.76	.	15.5153	0.75818	0.1221:0.2851:0.5928:0.0	.	947;2207;1476;2356;1599;2217;2227	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	2227;2356;2227;2227;2227;2226;1599;2217;1599;1599;2227;2217;1599;373;947	ENSP00000342210:D2227N;ENSP00000343175:D2217N;ENSP00000327747:D1599N;ENSP00000357905:D2227N;ENSP00000357951:D2217N;ENSP00000357952:D1599N;ENSP00000352593:D947N	ENSP00000331522:D1599N	D	+	1	0	0	DMBT1	124389669	124389669	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.417000	0.07088	-2.593000	0.00455	-1.004000	0.02495	GAC	0.093199		TCGA-HZ-8002-01A-11D-2201-08	0.478	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	1	2	2	2	2	0	0	0	0	199	199	199	199	1	2	-2.469359	0	0.100000	NM_004406		0	17	17	0	816	796	0		1	1		0	0	199	0	0	9.999559e-01	3.304017e-01	0	2	0	53	0	17	816
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000311027.5	+	3	781	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C|MADD_ENST00000342922.4_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522																																						ENST00000311027.5	1.000000	0.280000	1.000000	0.390000	0.540000	0.610401	0.540000	0.480000																										0				84						c.(616-618)Cgc>Tgc		MAP-kinase activating death domain							78.0	80.0	79.0					11																	47296667		2201	4298	6499	SO:0001583	missense	8567	0	0					g.chr11:47296667C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.616C>T	chr11.hg19:g.47296667C>T	ENSP00000310933:p.Arg206Cys	0					MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000342922.4_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C	p.R206C	NM_003682.3	NP_003673.3	1	2	3	2.029215				3	781	+				Missense_Mutation	SNP	ENST00000311027.5	0	1	hg19	c.616C>T	CCDS7930.1	0	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885704	0.72410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.07908	3.26;3.15;3.15;3.26;3.27;3.17;3.16;3.26;3.26	5.81	3.84	0.44239	5.81	3.84	0.44239	DENN (3);	0.057038	0.64402	D	0.000002	T	0.27731	0.0682	M	0.73598	2.24	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.948;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D	0.91635	0.994;0.791;0.992;0.981;0.981;0.981;0.988;0.999;0.993;0.988	T	0.02661	-1.1127	9	.	.	.	-6.6138	14.1753	0.65537	0.487:0.513:0.0:0.0	.	206;206;206;206;206;206;206;206;206;206	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	206	ENSP00000343902:R206C;ENSP00000385585:R206C;ENSP00000384435:R206C;ENSP00000304505:R206C;ENSP00000310933:R206C;ENSP00000384204:R206C;ENSP00000378753:R206C;ENSP00000378745:R206C;ENSP00000384287:R206C	.	R	+	1	0	0	MADD	47253243	47253243	1.000000	0.71417	0.788000	0.31933	0.970000	0.65996	3.083000	0.50136	1.409000	0.46915	0.655000	0.94253	CGC	0.111988		TCGA-HZ-8002-01A-11D-2201-08	0.522	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	0	0	1	2	2	2	2	0	0	0	0	108	108	108	106	1	2	-10.762330	1	0.100000			0	13	13	0	523	515	0		1	1		0	0	108	0	0	9.994934e-01	5.465036e-01	0	4	0	67	0	13	523
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517																																						ENST00000382545.3	1.000000	0.840000	1.000000	0.920000	0.990000	0.974911	0.990000	1.000000																										0				63						c.(1204-1206)Ctg>Ttg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)						326.0	313.0	317.0					12																	5021748		2203	4300	6503	SO:0001819	synonymous_variant	3736	0	0					g.chr12:5021748C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1204C>T	chr12.hg19:g.5021748C>T		0					KCNA1_ENST00000543874.2_Intron	p.L402L	NM_000217.2	NP_000208.2	1	2	3	2.012033	Q09470	KCNA1_HUMAN		2	2311	+			A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	1	1	hg19	c.1204C>T	CCDS8535.1	1																																																																																								0.108470		TCGA-HZ-8002-01A-11D-2201-08	0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	1	2	2	2	2	0	0	0	0	474	474	474	465	1	2	-9.441565	1	0.100000	NM_000217		0	123	120	0	2339	2280	0		1			0	0	474	0	0	1	0	0	0	0	0	0	123	2339
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.700000	1.000000	0.990000	0.990000	0.975434	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	0	1	1	1.998225	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	24	24	24	24	1	2	-5.707509	1	0.100000	NM_033360		840	9	9	7114	113	110	0	1	1	0	1	0	0	24	402	1	9.941519e-01	4.941126e-01	9.999998e-01	0	44	20	555	9	113
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000553532.1	-	8	857	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G235E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547																																						ENST00000553532.1	1.000000	0.610000	1.000000	0.780000	0.970000	0.914543	0.970000	1.000000																										0				49						c.(706-708)gGa>gAa		timeless circadian clock							67.0	63.0	64.0					12																	56825369		2203	4300	6503	SO:0001583	missense	8914	0	0					g.chr12:56825369C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.707G>A	chr12.hg19:g.56825369C>T	ENSP00000450607:p.Gly236Glu	0					TIMELESS_ENST00000229201.4_Missense_Mutation_p.G235E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E	p.G236E			0	1	1	1.998225				8	857	-				Missense_Mutation	SNP	ENST00000553532.1	1	1	hg19	c.707G>A	CCDS8918.1	1	.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277284	0.05679	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.39056	1.1;1.1;1.1	5.42	3.49	0.39957	5.42	3.49	0.39957	Timeless protein (1);	0.470219	0.24623	N	0.036943	T	0.18923	0.0454	N	0.04508	-0.205	0.09310	N	1	B;B	0.24675	0.089;0.109	B;B	0.30943	0.075;0.122	T	0.22800	-1.0206	10	0.11182	T	0.66	-0.0727	8.6066	0.33778	0.1394:0.5219:0.3387:0.0	.	235;236	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	235;236;236	ENSP00000229201:G235E;ENSP00000450607:G236E;ENSP00000450848:G236E	ENSP00000229201:G236E	G	-	2	0	0	TIMELESS	55111636	55111636	0.077000	0.21312	0.764000	0.31436	0.291000	0.27294	2.205000	0.42770	2.715000	0.92844	0.655000	0.94253	GGA	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	1	2	2	2	2	0	0	0	0	73	73	73	71	1	2	-3.227970	1	0.100000	NM_003920		0	19	19	0	366	352	0		1	1		0	0	73	0	0	9.999878e-01	6.312343e-01	0	7	0	34	0	19	366
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral component of membrane (GO:0016021)		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423																																						ENST00000299308.3	1.000000	0.440000	1.000000	0.590000	0.780000	0.782626	0.780000	1.000000																										1	Substitution - Missense(1)	p.E790K(1)	NS(1)	107						c.(2368-2370)Gaa>Aaa		transmembrane protein 132B							88.0	87.0	87.0					12																	126138387		2059	4205	6264	SO:0001583	missense	114795	1	121028	32				g.chr12:126138387G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2368G>A	chr12.hg19:g.126138387G>A	ENSP00000299308:p.Glu790Lys	0					TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	p.E790K	NM_052907.2	NP_443139.2	0	1	1	1.998225	Q14DG7	T132B_HUMAN		9	2376	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	1	1	hg19	c.2368G>A	CCDS41859.1	0	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	0	TMEM132B	124704340	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	2	-4.016711	1	0.100000	NM_052907		0	13	11	0	320	307	0		1			0	0	94	0	0	9.994030e-01	0	0	0	0	0	0	13	320
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388																																						ENST00000251127.6	1.000000	0.170000	0.790000	0.270000	0.410000	0.491448	0.410000	0.350000																										0				177						c.(262-264)gCa>gTa		sodium leak channel, non-selective							111.0	90.0	97.0					13																	102047562		2203	4300	6503	SO:0001583	missense	259232	0	0					g.chr13:102047562G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.263C>T	chr13.hg19:g.102047562G>A	ENSP00000251127:p.Ala88Val	0					NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000470333.1_5'UTR	p.A88V	NM_052867.2	NP_443099.1	1	2	3	2.015544	Q8IZF0	NALCN_HUMAN		3	344	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	0	1	hg19	c.263C>T	CCDS9498.1	0	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972746	0.34848	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98105	-4.72;-4.72;-4.72	5.59	5.59	0.84812	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	N	0.08118	0	0.80722	D	1	B;B	0.32526	0.374;0.328	B;B	0.35039	0.194;0.194	D	0.91202	0.4992	10	0.02654	T	1	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	88;88	F2Z323;Q8IZF0	.;NALCN_HUMAN	V	88	ENSP00000251127:A88V;ENSP00000365367:A88V;ENSP00000365373:A88V	ENSP00000251127:A88V	A	-	2	0	0	NALCN	100845563	100845563	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.635000	0.89317	0.563000	0.77884	GCA	0.108911		TCGA-HZ-8002-01A-11D-2201-08	0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	0	0	0	2	2	2	2	0	0	0	0	96	96	96	95	1	2	-6.628334	1	0.100000	NM_052867		0	7	7	0	386	376	0		1	0		0	0	96	0	0	9.789733e-01	2.560592e-02	0	0	0	12	0	7	386
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTTCTTTTTCTTAATTGG	0.363																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4	1.000000	0.260000	0.960000	0.380000	0.540000	0.598604	0.540000	0.490000																										0				79						c.(2905-2907)aAa>aTa		zinc finger CCCH-type containing 13							151.0	148.0	149.0					13																	46543773		2203	4300	6503	SO:0001583	missense	23091	0	0					g.chr13:46543773T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2906A>T	chr13.hg19:g.46543773T>A	ENSP00000242848:p.Lys969Ile	0					ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I	p.K969I			1	2	3	2.015544	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	14	3254	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	0	1	hg19	c.2906A>T		0	.	.	.	.	.	.	.	.	.	.	T	11.21	1.572751	0.28092	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.49139	1.81;0.79	5.78	2.02	0.26589	5.78	2.02	0.26589	.	0.257379	0.33515	N	0.004827	T	0.56790	0.2009	M	0.62723	1.935	0.80722	D	1	P;D	0.54397	0.943;0.966	P;P	0.58266	0.69;0.836	T	0.56220	-0.8015	10	0.51188	T	0.08	.	10.1538	0.42809	0.0:0.1986:0.0:0.8014	.	969;969	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	969	ENSP00000242848:K969I;ENSP00000282007:K969I	ENSP00000242848:K969I	K	-	2	0	0	ZC3H13	45441774	45441774	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.762000	0.55250	0.543000	0.28864	0.533000	0.62120	AAA	0.108911		TCGA-HZ-8002-01A-11D-2201-08	0.363	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	0	0	0	2	2	2	2	0	0	0	0	169	169	169	165	1	2	-10.142810	1	0.100000	NM_015070		0	10	9	0	401	392	0		1	0		0	0	169	0	0	9.965579e-01	8.305532e-01	0	1	0	131	0	10	401
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000375739.2_Silent_p.F145F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478																																						ENST00000375741.2	1.000000	0.330000	0.940000	0.440000	0.580000	0.638330	0.580000	0.550000																										0				41						c.(583-585)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 7							139.0	128.0	132.0					13																	111870079		2203	4300	6503	SO:0001819	synonymous_variant	8874	0	0					g.chr13:111870079C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.585C>T	chr13.hg19:g.111870079C>T		0					ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000218789.5_Silent_p.F17F	p.F195F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	1	2	3	2.015544	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)	6	835	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	1	1	hg19	c.585C>T	CCDS45068.1	0																																																																																								0.108911		TCGA-HZ-8002-01A-11D-2201-08	0.478	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	131	131	131	130	1	2	-2.939235	1	0.100000	NM_001113511		0	16	15	0	572	561	0		1	1		0	0	131	0	0	9.999196e-01	4.448522e-01	0	3	0	50	0	16	572
HS3ST3B1	9953	broad.mit.edu	37	17	14205111	14205111	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	92					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTCCGGGCGCCGCCAGCCA	0.751																																						ENST00000360954.2	1.000000	0.360000	1.000000	0.670000	0.990000	0.884753	0.990000	1.000000																										0				7						c.(274-276)gcG>gcA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							2.0	4.0	3.0					17																	14205111		1835	3713	5548	SO:0001819	synonymous_variant	9953	0	0					g.chr17:14205111G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.276G>A	chr17.hg19:g.14205111G>A		0					RP11-214O1.2_ENST00000583262.1_lincRNA	p.A92A	NM_006041.1	NP_006032.1	0	1	1	1.988506	Q9Y662	HS3SB_HUMAN		1	712	+			B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	0	1	hg19	c.276G>A	CCDS11167.1	1																																																																																								0.091826		TCGA-HZ-8002-01A-11D-2201-08	0.751	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	0	0	0	2	2	2	2	0	0	0	0	10	10	10	0	1	2	-8.814529	1	0.100000	NM_006041		0	3	0	0	44	0	0					0	0	10	0	0	0	0	0	0	0	0	0	3	44
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5	0.830000	0.280000	0.680000	0.380000	0.510000	0.538603	0.510000	0.510000																										0				36						c.(2530-2532)Ccc>Tcc	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							72.0	77.0	75.0					17																	73624802		2031	4188	6219	SO:0001583	missense	9400	0	0					g.chr17:73624802G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2530C>T	chr17.hg19:g.73624802G>A	ENSP00000317636:p.Pro844Ser	0					RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	p.P844S	NM_004259.6	NP_004250.4	0	1	1	1.988972	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)	17	2689	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	1	1	hg19	c.2530C>T	CCDS42380.1	0	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285118	0.23478	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.59638	0.25;0.43	5.15	4.19	0.49359	5.15	4.19	0.49359	.	1.175340	0.06100	N	0.665238	T	0.48786	0.1519	L	0.35723	1.085	0.47153	D	0.999332	B;B;B	0.22909	0.013;0.013;0.077	B;B;B	0.26094	0.003;0.003;0.066	T	0.12630	-1.0540	10	0.07813	T	0.8	-1.086	11.4825	0.50333	0.0879:0.0:0.9121:0.0	.	844;817;40	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	S	439;844;844	ENSP00000394820:P844S;ENSP00000317636:P844S	ENSP00000317636:P844S	P	-	1	0	0	RECQL5	71136397	71136397	0.049000	0.20398	0.010000	0.14722	0.558000	0.35554	1.541000	0.36126	1.180000	0.42898	0.563000	0.77884	CCC	0.091826		TCGA-HZ-8002-01A-11D-2201-08	0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	0	0	1	2	2	2	2	0	0	0	0	73	73	73	72	1	2	-3.769229	1	0.100000	NM_004259		0	12	12	0	454	446	0		1	0		0	0	73	0	0	9.990415e-01	2.243800e-01	0	0	0	32	0	12	454
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443																																						ENST00000261592.5	1.000000	0.400000	0.810000	0.490000	0.610000	0.654632	0.610000	0.590000																										0				51						c.(1102-1104)aGt>aCt		nucleolar protein 4							229.0	204.0	212.0					18																	31538336		2203	4300	6503	SO:0001583	missense	8715	0	0					g.chr18:31538336C>G	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1103G>C	chr18.hg19:g.31538336C>G	ENSP00000261592:p.Ser368Thr	0					NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	p.S368T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	1	2	3	2.003108	O94818	NOL4_HUMAN		7	1400	-			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	1	1	hg19	c.1103G>C	CCDS11907.2	0	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092768	0.20471	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;T;D;T	0.84442	-1.85;-1.85;-1.29;-1.85;-1.29	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.188941	0.47093	D	0.000242	D	0.83792	0.5331	L	0.40543	1.245	0.41127	D	0.985853	P;B;B;B;B;B;B;B	0.41450	0.75;0.449;0.066;0.136;0.449;0.066;0.017;0.136	B;B;B;B;B;B;B;B	0.42827	0.399;0.215;0.061;0.143;0.143;0.061;0.043;0.061	D	0.84778	0.0771	10	0.54805	T	0.06	-5.3095	19.7023	0.96060	0.0:1.0:0.0:0.0	.	254;117;83;294;368;83;368;213	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	T	368;254;117;83;213;294	ENSP00000261592:S368T;ENSP00000269185:S254T;ENSP00000445733:S83T;ENSP00000438190:S213T;ENSP00000443472:S294T	ENSP00000261592:S368T	S	-	2	0	0	NOL4	29792334	29792334	1.000000	0.71417	0.971000	0.41717	0.099000	0.18886	5.673000	0.68109	2.639000	0.89480	0.557000	0.71058	AGT	0.106256		TCGA-HZ-8002-01A-11D-2201-08	0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	1	2	2	2	2	0	0	0	0	211	211	211	209	1	2	-3.461704	1	0.100000	NM_003787		0	26	24	0	853	834	0		1	0		0	0	211	0	0	9.999999e-01	1.330580e-02	0	0	0	6	0	26	853
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A	rs370455162		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTCACCAGGCGGATGATCCTC	0.577																																						ENST00000369771.2	0.450000	0.170000	0.380000	0.220000	0.290000	0.305492	0.290000	0.290000																										1	Substitution - Missense(1)	p.R344C(1)	lung(1)	35						c.(1030-1032)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 10	Dalfampridine(DB06637)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	128.0	131.0		1030	5.6	1.0	1		131	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	344/512	111060380	1,13005	2203	4300	6503	SO:0001583	missense	3744	2	121412	40				g.chr1:111060380G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1030C>T	chr1.hg19:g.111060380G>A	ENSP00000358786:p.Arg344Cys	0						p.R344C	NM_005549.2	NP_005540.1	0	1	1	1.999258	Q16322	KCA10_HUMAN		1	1417	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Missense_Mutation	SNP	ENST00000369771.2	0	1	hg19	c.1030C>T	CCDS826.1	0	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215244	0.79352	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.99259	-5.64	5.63	5.63	0.86233	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96505	0.9374	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	344	Q16322	KCA10_HUMAN	C	344	ENSP00000358786:R344C	ENSP00000358786:R344C	R	-	1	0	0	KCNA10	110861903	110861903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.505000	0.73708	2.676000	0.91093	0.558000	0.71614	CGC	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.577	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	0	0	1	2	2	2	2	0	0	0	0	196	196	196	195	1	2	-2.308347	0	0.100000	NM_005549		0	16	16	0	1078	1050	0		1			0	0	196	0	0	9.999150e-01	0	0	0	0	0	0	16	1078
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687																																						ENST00000368463.3	1.000000	0.460000	1.000000	0.720000	0.990000	0.903023	0.990000	1.000000																										0				24						c.(487-489)cGg>cAg		pre-B-cell leukemia homeobox interacting protein 1							19.0	19.0	19.0					1																	154920764		2200	4297	6497	SO:0001583	missense	57326	2	121304	26				g.chr1:154920764C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.488G>A	chr1.hg19:g.154920764C>T	ENSP00000357448:p.Arg163Gln	0					PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q	p.R163Q	NM_020524.2	NP_065385.2	1	2	3	2.000801	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	6	559	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	0	1	hg19	c.488G>A	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305987	0.40795	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.64	3.73	0.42828	4.64	3.73	0.42828	.	0.381252	0.23284	N	0.049879	T	0.07098	0.0180	M	0.65975	2.015	0.25005	N	0.991446	B	0.27498	0.18	B	0.17722	0.019	T	0.18241	-1.0343	10	0.66056	D	0.02	-7.6894	6.8497	0.24008	0.0:0.7955:0.0:0.2045	.	163	Q96AQ6	PBIP1_HUMAN	Q	134;163;163;8;163	ENSP00000357450:R134Q;ENSP00000357448:R163Q;ENSP00000438584:R8Q;ENSP00000357445:R163Q	ENSP00000295523:R163Q	R	-	2	0	0	PBXIP1	153187388	153187388	0.841000	0.29509	0.988000	0.46212	0.773000	0.43773	2.101000	0.41787	1.163000	0.42636	0.563000	0.77884	CGG	0.105812		TCGA-HZ-8002-01A-11D-2201-08	0.687	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	0	1	2	2	2	2	0	0	0	0	18	18	18	18	1	2	-9.940429	1	0.100000	NM_020524		0	6	6	0	111	102	0		1	0		0	0	18	0	0	9.569276e-01	5.506923e-01	0	1	0	32	0	6	111
RPL11	6135	broad.mit.edu	37	1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGACAGGCTGCATTGGGGCCA	0.517																																						ENST00000374550.3	1.000000	0.240000	1.000000	0.460000	0.800000	0.761606	0.800000	1.000000																										0				6						c.(448-450)tgC>tgA		ribosomal protein L11							72.0	61.0	65.0					1																	24022341		2202	4299	6501	SO:0001587	stop_gained	6135	0	0					g.chr1:24022341C>A	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.450C>A	chr1.hg19:g.24022341C>A	ENSP00000363676:p.Cys150*	0					RPL11_ENST00000482370.1_3'UTR	p.C150*	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	0	1	1	1.999258	P62913	RL11_HUMAN		5	495	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	P25121|P39026|Q8TDH2|Q9Y674	Nonsense_Mutation	SNP	ENST00000374550.3	0	1	hg19	c.450C>A	CCDS238.1	0	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354407	0.82243	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	.	.	.	5.7	3.82	0.43975	5.7	3.82	0.43975	.	0.218912	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-16.091	7.4225	0.27079	0.1337:0.7263:0.0:0.14	.	.	.	.	X	150;148	.	ENSP00000363676:C150X	C	+	3	2	2	RPL11	23894928	23894928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.446000	0.44908	1.417000	0.47077	-0.218000	0.12543	TGC	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.517	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	0	0	0	2	2	2	2	0	0	0	0	19	19	19	19	1	2	-6.410007	1	0.100000	NM_000975		0	3	2	0	74	73	0		1	1		0	0	19	0	0	8.041530e-01	1	0	3	0	7669	0	3	74
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		snoU13_ENST00000459362.1_RNA|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371058.1_Splice_Site	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299																																						ENST00000349533.6	1.000000	0.250000	0.940000	0.410000	0.640000	0.663998	0.640000	1.000000																										2	Unknown(2)	p.?(2)	large_intestine(2)	36						c.e4-1		leptin receptor							42.0	44.0	44.0					1																	66036155		2194	4298	6492	SO:0001630	splice_region_variant	3953	0	0					g.chr1:66036155G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.41-1G>T	chr1.hg19:g.66036155G>T		0					LEPR_ENST00000371058.1_Splice_Site|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371059.3_Splice_Site		NM_002303.5	NP_002294.2	0	1	1	1.999258	O15243	OBRG_HUMAN		4	225	+			Q6FHL5	Splice_Site	SNP	ENST00000349533.6	0	1	hg19		CCDS631.1	0	.	.	.	.	.	.	.	.	.	.	G	9.738	1.163980	0.21538	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	LEPR	65808743	65808743	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	5.008000	0.63991	2.619000	0.88677	0.460000	0.39030	.	0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.299	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	2	2	2	2	0	0	0	0	70	70	70	70	1	2	-7.362274	1	0.100000	NM_002303	Intron	0	5	5	0	156	150	0		1			0	0	70	0	0	9.321202e-01	0	0	0	0	0	0	5	156
PLPPR4	9890	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507																																						ENST00000370185.3	1.000000	0.620000	1.000000	0.820000	0.990000	0.935565	0.990000	1.000000																										0				72						c.(2170-2172)cgC>cgT									60.0	57.0	58.0					1																	99772446		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr1:99772446C>T																												ENST00000370185.3:c.2172C>T	chr1.hg19:g.99772446C>T		0					LPPR4_ENST00000370184.1_Silent_p.R566R|LPPR4_ENST00000457765.1_Silent_p.R666R	p.R724R	NM_014839.4	NP_055654.2	0	1	1	1.999258	Q7Z2D5	LPPR4_HUMAN		7	2669	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	1	1	hg19	c.2172C>T	CCDS757.1	1																																																																																								0.094112		TCGA-HZ-8002-01A-11D-2201-08	0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	1	2	2	2	2	0	0	0	0	70	70	70	70	1	2	-17.161540	1	0.100000			0	15	14	0	266	263	0		1	0		0	0	70	0	0	9.998702e-01	2.491065e-01	0	0	0	17	0	15	266
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552																																						ENST00000368097.4	1.000000	0.300000	0.650000	0.380000	0.480000	0.537529	0.480000	0.470000																										0				9						c.(586-588)Cgc>Tgc		transgelin 2							73.0	71.0	72.0					1																	159888604		2203	4300	6503	SO:0001583	missense	8407	0	0					g.chr1:159888604G>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.586C>T	chr1.hg19:g.159888604G>A	ENSP00000357077:p.Arg196Cys	0					TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	1	2	3	2.000801	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)	5	896	-	all_hematologic(112;0.0597)		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	1	1	hg19	c.586C>T	CCDS1189.1	0	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724566	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307	D;D;D	0.91631	-2.88;-2.88;-2.88	4.65	2.68	0.31781	4.65	2.68	0.31781	Calponin homology domain (1);	0.407364	0.15695	U	0.249233	D	0.92945	0.7755	H	0.97611	4.04	0.58432	D	0.999999	P	0.39060	0.657	B	0.40228	0.323	D	0.92678	0.6156	9	.	.	.	-12.6358	10.6602	0.45698	0.0:0.0:0.4966:0.5034	.	196	P37802	TAGL2_HUMAN	C	196;217;196	ENSP00000357077:R196C;ENSP00000357076:R217C;ENSP00000357075:R196C	.	R	-	1	0	0	TAGLN2	158155228	158155228	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	3.226000	0.51254	0.628000	0.30357	0.655000	0.94253	CGC	0.105812		TCGA-HZ-8002-01A-11D-2201-08	0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	0	0	1	2	2	2	2	0	0	0	0	126	126	126	126	1	2	-14.823980	1	0.100000	NM_003564		0	21	20	0	884	859	1		1	1		0	0	126	0	0	9.999965e-01	1	0	328	0	2041	0	21	884
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGGCCCCCAGGCCCAACAG	0.652																																						ENST00000344754.4	1.000000	0.320000	1.000000	0.620000	0.990000	0.867233	0.990000	1.000000																										0				70						c.(4975-4977)cTg>cCg		sialic acid binding Ig-like lectin 1, sialoadhesin							15.0	14.0	15.0					20																	3670268		2182	4285	6467	SO:0001583	missense	6614	0	0					g.chr20:3670268A>G	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4976T>C	chr20.hg19:g.3670268A>G	ENSP00000341141:p.Leu1659Pro	0					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	p.L1659P	NM_023068.3	NP_075556.1	1	2	3	2.023883	Q9BZZ2	SN_HUMAN		19	4975	-			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	0	1	hg19	c.4976T>C	CCDS13060.1	1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670089	0.47677	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.27104	1.72;1.69	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.30060	N	0.010502	T	0.37293	0.0998	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.987	T	0.05733	-1.0867	10	0.28530	T	0.3	.	12.0747	0.53636	1.0:0.0:0.0:0.0	.	1659;1659	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	1659	ENSP00000341141:L1659P;ENSP00000202578:L1659P	ENSP00000202578:L1659P	L	-	2	0	0	SIGLEC1	3618268	3618268	0.998000	0.40836	1.000000	0.80357	0.103000	0.19146	4.194000	0.58393	2.162000	0.67917	0.533000	0.62120	CTG	0.110672		TCGA-HZ-8002-01A-11D-2201-08	0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1	2	2	2	2	0	0	0	0	11	11	11	11	1	2	-6.872078	1	0.100000	NM_023068		0	3	3	0	61	58	0		1	0		0	0	11	0	0	7.970732e-01	8.948709e-02	0	0	0	8	0	3	61
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677																																						ENST00000398165.3	0.780000	0.310000	0.660000	0.400000	0.520000	0.537062	0.520000	0.510000																										0				17						c.(1183-1185)ggC>ggT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)						73.0	72.0	72.0					21																	44479374		2203	4300	6503	SO:0001819	synonymous_variant	875	0	0					g.chr21:44479374G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1185C>T	chr21.hg19:g.44479374G>A		0					CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000352178.5_Silent_p.G395G	p.G395G	NM_000071.2	NP_000062.1	0	0	0	1.953017	P35520	CBS_HUMAN		13	1444	-			B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	1	1	hg19	c.1185C>T	CCDS13693.1	0	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511235	0.12883	.	.	ENSG00000160200	ENST00000430013	.	.	.	4.63	2.54	0.30619	4.63	2.54	0.30619	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	4	.	.	.	-36.0301	2.2239	0.03979	0.108:0.212:0.462:0.2179	.	.	.	.	V	49	.	.	A	-	2	0	0	CBS	43352443	43352443	0.981000	0.34729	1.000000	0.80357	0.499000	0.33736	0.337000	0.19841	0.911000	0.36747	0.563000	0.77884	GCT	0.072165		TCGA-HZ-8002-01A-11D-2201-08	0.677	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	0	0	1	2	2	2	2	0	0	0	0	131	131	131	128	1	2	-3.120661	1	0.100000	NM_000071		0	17	17	0	618	604	0		1	0		0	0	131	0	0	9.999580e-01	1.582446e-01	0	1	0	24	0	17	618
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000402357.1	+	2	338	c.205G>A	c.(205-207)Gcg>Acg	p.A69T	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.A62T	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706																																						ENST00000402357.1	1.000000	0.260000	0.870000	0.410000	0.610000	0.638900	0.610000	1.000000																										0				7						c.(205-207)Gcg>Acg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							19.0	25.0	23.0					22																	49042501		2043	4173	6216	SO:0001583	missense	25817	0	0					g.chr22:49042501G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.205G>A	chr22.hg19:g.49042501G>A	ENSP00000383933:p.Ala69Thr	0					FAM19A5_ENST00000358295.5_Missense_Mutation_p.A62T|FAM19A5_ENST00000473898.1_Intron	p.A69T	NM_001082967.1	NP_001076436.1	0	0	0	1.960641	Q7Z5A7	F19A5_HUMAN		2	338	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	0	1	hg19	c.205G>A	CCDS46728.1	0	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446877	0.84101	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	5.2	5.2	0.72013	.	.	.	.	.	T	0.75474	0.3854	M	0.62723	1.935	0.80722	D	1	D;D	0.62365	0.975;0.991	P;P	0.62382	0.591;0.901	T	0.78409	-0.2215	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	62;69	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	69;69;62	.	ENSP00000336812:A69T	A	+	1	0	0	FAM19A5	47428937	47428937	1.000000	0.71417	0.125000	0.21846	0.391000	0.30476	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCG	0.075975		TCGA-HZ-8002-01A-11D-2201-08	0.706	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	0	0	0	2	2	2	2	0	0	0	0	35	35	35	33	1	2	-8.606893	1	0.100000	NM_015381		0	6	6	0	188	176	0		1	0		0	0	35	0	0	9.582568e-01	2.393978e-01	0	0	0	26	0	6	188
MAP3K2	10746	broad.mit.edu	37	2	128065382	128065382	+	Splice_Site	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128065382T>C	ENST00000409947.1	-	17	1917		c.e17-2		MAP3K2_ENST00000344908.5_Splice_Site			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GCAACACTCCTGAAAAGAAAC	0.368																																						ENST00000409947.1	1.000000	0.280000	1.000000	0.630000	0.990000	0.876247	0.990000	1.000000																										0				7						c.e17-2		mitogen-activated protein kinase kinase kinase 2	Bosutinib(DB06616)						28.0	26.0	27.0					2																	128065382		1892	4116	6008	SO:0001630	splice_region_variant	10746	0	0					g.chr2:128065382T>C	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1635-2A>G	chr2.hg19:g.128065382T>C		0					MAP3K2_ENST00000344908.5_Splice_Site				1	2	3	2.032224	Q9Y2U5	M3K2_HUMAN		17	1917	-	Colorectal(110;0.1)		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Splice_Site	SNP	ENST00000409947.1	0	0	hg19		CCDS46404.1	1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760741	0.69763	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	5.56	5.56	0.83823	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0018	0.80297	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MAP3K2	127781852	127781852	1.000000	0.71417	0.979000	0.43373	0.879000	0.50718	7.997000	0.88414	2.226000	0.72624	0.528000	0.53228	.	0.112863		TCGA-HZ-8002-01A-11D-2201-08	0.368	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	0	2	2	2	2	0	0	0	0	9	9	9	9	1	2	-4.067877	1	0.100000	NM_006609	Intron	0	2	2	0	37	34	1		1			0	0	9	0	0	6.515365e-01	0	0	0	0	0	0	2	37
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000409816.2	+	16	2049	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672																																						ENST00000409816.2	1.000000	0.310000	1.000000	0.520000	0.850000	0.793415	0.850000	1.000000																										0				75						c.(2017-2019)Cgg>Tgg		myosin VIIB							16.0	24.0	22.0					2																	128350393		2040	4173	6213	SO:0001583	missense	4648	0	0					g.chr2:128350393C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2017C>T	chr2.hg19:g.128350393C>T	ENSP00000386461:p.Arg673Trp	0					MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R673W	p.R673W			1	2	3	2.032224	Q6PIF6	MYO7B_HUMAN		16	2049	+	Colorectal(110;0.1)		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	0	1	hg19	c.2017C>T	CCDS46405.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086081	0.76642	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.72394	-0.65;-0.65;-0.65	4.93	4.04	0.47022	4.93	4.04	0.47022	Myosin head, motor domain (2);	0.419727	0.22981	N	0.053306	D	0.84705	0.5531	M	0.91612	3.225	0.40257	D	0.978134	D	0.76494	0.999	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	9.7827	0.40658	0.1463:0.777:0.0:0.0767	.	673	Q6PIF6	MYO7B_HUMAN	W	673	ENSP00000374175:R673W;ENSP00000415090:R673W;ENSP00000386461:R673W	ENSP00000374175:R673W	R	+	1	2	2	MYO7B	128066863	128066863	0.096000	0.21769	0.486000	0.27416	0.986000	0.74619	2.109000	0.41863	1.198000	0.43158	0.655000	0.94253	CGG	0.112863		TCGA-HZ-8002-01A-11D-2201-08	0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	0	1	2	2	2	2	0	0	0	0	20	20	20	19	1	2	-7.526299	1	0.100000	XM_291001		0	5	5	0	137	126	0		1	0		0	0	20	0	0	9.244901e-01	1.198744e-01	0	0	0	14	0	5	137
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502																																						ENST00000374866.3	1.000000	0.350000	1.000000	0.440000	0.560000	0.630023	0.560000	0.520000																										0				95						c.(1858-1860)aaA>aaT		collagen, type V, alpha 2							88.0	101.0	97.0					2																	189927907		2203	4300	6503	SO:0001583	missense	1290	0	0					g.chr2:189927907T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1860A>T	chr2.hg19:g.189927907T>A	ENSP00000364000:p.Lys620Asn	0						p.K620N	NM_000393.3	NP_000384.2	1	2	3	2.032224	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)	27	2134	-			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	1	1	hg19	c.1860A>T	CCDS33350.1	0	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330784	0.60853	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94184	-3.37	4.57	3.4	0.38934	4.57	3.4	0.38934	.	0.000000	0.50627	D	0.000104	D	0.95686	0.8597	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.71674	0.998;0.974	D;P	0.73708	0.981;0.831	D	0.94257	0.7499	9	.	.	.	.	8.2608	0.31783	0.0:0.181:0.0:0.819	.	260;620	Q5PR22;P05997	.;CO5A2_HUMAN	N	620;260	ENSP00000364000:K620N	.	K	-	3	2	2	COL5A2	189636152	189636152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.183000	0.32041	0.711000	0.32018	0.383000	0.25322	AAA	0.112863		TCGA-HZ-8002-01A-11D-2201-08	0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	0	1	2	2	2	2	0	0	0	0	216	216	216	216	1	2	-3.142539	1	0.100000	NM_000393		0	26	26	0	981	954	0		1	1		0	0	216	0	0	9.999999e-01	9.999999e-01	0	9	0	981	0	26	981
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	672	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCAGTCGAGCTCATCAA	0.582																																						ENST00000304032.8	1.000000	0.190000	1.000000	0.270000	0.380000	0.491801	0.380000	0.340000																										0				41						c.(2014-2016)Gag>Aag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							115.0	106.0	109.0					2																	236957825		2203	4300	6503	SO:0001583	missense	116987	1	121412	34				g.chr2:236957825G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2014G>A	chr2.hg19:g.236957825G>A	ENSP00000307634:p.Glu672Lys	0					AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K	p.E672K	NM_001037131.2	NP_001032208.1	1	2	3	2.032224	Q9UPQ3	AGAP1_HUMAN		16	2594	+			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	0	1	hg19	c.2014G>A	CCDS33408.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.882175|5.882175	0.97062|0.97062	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.49|5.49	5.49|5.49	0.81192|0.81192	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81772|0.81772	0.4893|0.4893	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.992;0.994|.	T|T	0.82232|0.82232	-0.0559|-0.0559	10|5	0.56958|.	D|.	0.05|.	.|.	19.3968|19.3968	0.94610|0.94610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	619;672|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	672;619;884;511|224;73	ENSP00000307634:E672K;ENSP00000338378:E619K;ENSP00000386897:E884K;ENSP00000411824:E511K|.	ENSP00000307634:E672K|.	E|R	+|+	1|2	0|0	0|0	AGAP1|AGAP1	236622564|236622564	236622564|236622564	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.981000|0.981000	0.71138|0.71138	9.722000|9.722000	0.98770|0.98770	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA	0.112863		TCGA-HZ-8002-01A-11D-2201-08	0.582	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	1	2	2	2	2	0	0	0	0	122	122	122	122	1	2	-2.881783	1	0.100000	NM_014914		0	12	13	0	698	687	0		1	1		0	0	122	0	0	9.990402e-01	3.042277e-01	0	4	0	57	0	12	698
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|EAF1-AS1_ENST00000608408.1_RNA|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587																																						ENST00000383788.5	1.000000	0.190000	1.000000	0.350000	0.590000	0.632125	0.590000	1.000000																										0				19						c.(1234-1236)gaG>gaT		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							172.0	135.0	147.0					3																	15495398		2203	4300	6503	SO:0001583	missense	8292	0	0					g.chr3:15495398C>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1236G>T	chr3.hg19:g.15495398C>A	ENSP00000373298:p.Glu412Asp	0					COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|EAF1-AS1_ENST00000608408.1_RNA	p.E412D	NM_005677.3	NP_005668.2	1	2	3	2.010426	Q9Y215	COLQ_HUMAN		16	1361	-			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	0	1	hg19	c.1236G>T	CCDS33709.1	0	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563678	0.27915	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.91295	-2.64;-2.82;-2.77;-2.77;-2.79	5.3	2.12	0.27331	5.3	2.12	0.27331	.	0.637835	0.16393	N	0.216367	D	0.87767	0.6260	L	0.48642	1.525	0.80722	D	1	P;B;P;P	0.44044	0.683;0.024;0.555;0.825	B;B;B;P	0.46026	0.212;0.033;0.17;0.501	D	0.84958	0.0875	10	0.72032	D	0.01	0.0611	7.265	0.26224	0.0:0.5012:0.0:0.4988	.	378;403;412;402	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	D	403;402;402;412;402;413;378	ENSP00000373297:E403D;ENSP00000373291:E402D;ENSP00000402511:E402D;ENSP00000373298:E412D;ENSP00000373296:E378D	ENSP00000373291:E402D	E	-	3	2	2	COLQ	15470402	15470402	0.005000	0.15991	0.679000	0.29978	0.987000	0.75469	-0.179000	0.09768	0.637000	0.30526	-0.369000	0.07265	GAG	0.108028		TCGA-HZ-8002-01A-11D-2201-08	0.587	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	0	0	0	2	2	2	2	0	0	0	0	21	21	21	20	1	2	-6.152182	1	0.100000	NM_005677		0	4	2	0	158	152	0		1	0		0	0	21	0	0	8.774925e-01	3.953641e-02	0	0	0	10	0	4	158
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443																																						ENST00000256935.8	0.850000	0.180000	0.640000	0.290000	0.450000	0.477812	0.450000	0.420000																										0				160						c.(226-228)Aat>Tat		dedicator of cytokinesis 2							72.0	67.0	69.0					5																	169098083		2203	4300	6503	SO:0001630	splice_region_variant	1794	0	0					g.chr5:169098083A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.225-1A>T	chr5.hg19:g.169098083A>T		0						p.N76Y	NM_004946.2	NP_004937.1	0	1	1	1.993919	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	5	306	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	0	1	hg19	c.226A>T	CCDS4371.1	0	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986874	0.35036	.	.	ENSG00000134516	ENST00000256935	T	0.50001	0.76	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.145914	0.64402	D	0.000012	T	0.30008	0.0751	N	0.22421	0.69	0.80722	D	1	P	0.45902	0.868	B	0.34038	0.174	T	0.13845	-1.0494	10	0.41790	T	0.15	.	12.6492	0.56751	0.8529:0.1471:0.0:0.0	.	76	Q92608	DOCK2_HUMAN	Y	76	ENSP00000256935:N76Y	ENSP00000256935:N76Y	N	+	1	0	0	DOCK2	169030661	169030661	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	3.543000	0.53633	2.158000	0.67659	0.460000	0.39030	AAT	0.092742		TCGA-HZ-8002-01A-11D-2201-08	0.443	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	0	1	2	2	2	2	0	0	0	0	60	60	60	60	1	2	-3.453223	1	0.100000	NM_004946	Missense_Mutation	0	6	6	0	272	262	0		1	0		0	0	60	0	0	9.612907e-01	1.508191e-01	0	0	0	27	0	6	272
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000518282.1_Silent_p.E2480E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478										HNSCC(33;0.089)																												ENST00000521891.2	1.000000	0.350000	1.000000	0.440000	0.570000	0.648164	0.570000	0.520000																										0				432						c.(7516-7518)gaA>gaG		zinc finger homeobox 4							176.0	183.0	181.0					8																	77766675		2060	4226	6286	SO:0001819	synonymous_variant	79776	0	0					g.chr8:77766675A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7518A>G	chr8.hg19:g.77766675A>G		0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000455469.2_Silent_p.E2461E	p.E2506E	NM_024721.4	NP_078997.4	1	2	3	2.050326	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	7966	+			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	1	1	hg19	c.7518A>G	CCDS47878.2	0																																																																																								0.116781		TCGA-HZ-8002-01A-11D-2201-08	0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	1	2	2	2	2	0	0	0	0	170	170	170	167	1	2	-3.359118	1	0.100000	NM_024721		0	23	25	0	866	845	0		1	0		0	0	170	0	0	9.999991e-01	9.333394e-02	0	0	0	19	0	23	866
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517																																						ENST00000524391.1	1.000000	0.340000	1.000000	0.490000	0.700000	0.727123	0.700000	1.000000																										1	Substitution - Missense(1)	p.V214I(1)	haematopoietic_and_lymphoid_tissue(1)	37						c.(640-642)Gtc>Atc		potassium channel, subfamily V, member 1							92.0	84.0	87.0					8																	110984838		2203	4300	6503	SO:0001583	missense	27012	1	121412	30				g.chr8:110984838C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.640G>A	chr8.hg19:g.110984838C>T	ENSP00000435954:p.Val214Ile	0					KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I|RP11-696P8.2_ENST00000530667.1_RNA	p.V214I			1	2	3	2.050326	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)	3	1672	-	all_neural(195;0.219)		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	0	1	hg19	c.640G>A	CCDS6314.1	0	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	0	KCNV1	111054014	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC	0.116781		TCGA-HZ-8002-01A-11D-2201-08	0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	91	1	2	-3.693547	1	0.100000	NM_014379		0	11	9	0	355	347	0		1	0		0	0	93	0	0	9.981255e-01	0	0	0	0	1	0	11	355
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T	rs372732529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647																																						ENST00000242315.3	1.000000	0.730000	1.000000	0.890000	0.990000	0.962536	0.990000	1.000000																										0				19						c.(673-675)Cgt>Tgt		KIAA1045		C	CYS/ARG	0,4220		0,0,2110	34.0	41.0	39.0		673	4.9	1.0	9		39	1,8445		0,1,4222	no	missense	KIAA1045	NM_015297.1	180	0,1,6332	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	225/401	34976561	1,12665	2110	4223	6333	SO:0001583	missense	23349	1	121060	29				g.chr9:34976561C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.673C>T	chr9.hg19:g.34976561C>T	ENSP00000242315:p.Arg225Cys	0					KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	p.R225C	NM_015297.1	NP_056112.1	0	0	0	1.960936	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)	5	755	+			B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	1	1	hg19	c.673C>T	CCDS43796.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906243	0.92107	0.0	1.18E-4	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21932	1.98;1.98	4.92	4.92	0.64577	4.92	4.92	0.64577	EF-hand-like domain (1);	0.137454	0.51477	D	0.000087	T	0.27278	0.0669	N	0.24115	0.695	0.54753	D	0.999985	D	0.76494	0.999	P	0.56700	0.804	T	0.03829	-1.1000	10	0.66056	D	0.02	.	15.2674	0.73672	0.0:1.0:0.0:0.0	.	225	Q9UPV7	K1045_HUMAN	C	225	ENSP00000444138:R225C;ENSP00000242315:R225C	ENSP00000242315:R225C	R	+	1	0	0	KIAA1045	34966561	34966561	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.116000	0.57871	2.282000	0.76494	0.561000	0.74099	CGT	0.075975		TCGA-HZ-8002-01A-11D-2201-08	0.647	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	1	0	1	2	2	2	2	0	0	0	0	86	86	86	85	1	2	-6.325333	1	0.100000	XM_048592		0	25	24	0	414	408	0		1	0		0	0	86	0	0	9.999998e-01	3.141406e-02	0	0	0	5	0	25	414
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468																																						ENST00000375006.3	0.630000	0.140000	0.480000	0.220000	0.330000	0.357935	0.330000	0.310000																										0				24						c.(247-249)Cga>Tga		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1		G	stop/ARG	1,3834		0,1,1631,571	112.0	93.0	99.0		247	2.9	1.0	X	dbSNP_134	99	1,6727		0,1,2427,1872	no	stop-gained	PFKFB1	NM_002625.2		0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		83/472	54987327	2,10561	2203	4300	6503	SO:0001587	stop_gained	5207	7	121402	40				g.chrX:54987327G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.247C>T	chrX.hg19:g.54987327G>A	ENSP00000364145:p.Arg83*						PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*|PFKFB1_ENST00000374992.2_Intron	p.R83*	NM_002625.2	NP_002616.2	0	1	1		P16118	F261_HUMAN		3	317	-			B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	0	1	hg19	c.247C>T	CCDS14364.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.525944	0.96431	2.61E-4	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.89	2.9	0.33743	4.89	2.9	0.33743	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2486	12.3398	0.55087	0.0:0.0:0.6625:0.3375	.	.	.	.	X	83;18	.	ENSP00000364145:R83X	R	-	1	2	2	PFKFB1	55004052	55004052	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.625000	0.37029	0.359000	0.24239	0.594000	0.82650	CGA	0.100000		TCGA-HZ-8002-01A-11D-2201-08	0.468	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	0	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	2	-3.812622	1	0.100000			0	6	6	0	178	174	0		1	0		0	0	40	0	0	9.633227e-01	1.592900e-03	0	0	0	2	0	6	178
