#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRTAP27-1	643812	broad.mit.edu	37	21	31709410	31709410	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr21:31709410C>G	ENST00000382835.2	-	1	602	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CAAGTTGGTTCAACTCCTGGA	0.443																																						ENST00000382835.2																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(577-579)Gaa>Caa		keratin associated protein 27-1							71.0	70.0	70.0					21																	31709410		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709410C>G	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.577G>C	21.37:g.31709410C>G	ENSP00000372286:p.Glu193Gln						p.E193Q	NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN			1	602	-			193						Missense_Mutation	SNP	ENST00000382835.2	37	c.577G>C	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940708	0.34283	.	.	ENSG00000206107	ENST00000382835	T	0.02369	4.32	4.17	4.17	0.49024	.	0.591573	0.15024	U	0.284847	T	0.11281	0.0275	L	0.57536	1.79	0.27509	N	0.951739	D	0.76494	0.999	D	0.74348	0.983	T	0.01617	-1.1311	10	0.54805	T	0.06	-4.1164	12.2647	0.54670	0.0:1.0:0.0:0.0	.	193	Q3LI81	KR271_HUMAN	Q	193	ENSP00000372286:E193Q	ENSP00000372286:E193Q	E	-	1	0	KRTAP27-1	30631281	0.984000	0.35163	0.542000	0.28115	0.037000	0.13140	1.592000	0.36676	2.608000	0.88229	0.585000	0.79938	GAA		0.443	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		23	24	0	0	0	0.069288	0	23	24				
FAM71F1	84691	broad.mit.edu	37	7	128359080	128359080	+	Silent	SNP	T	T	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:128359080T>A	ENST00000315184.5	+	3	683	c.630T>A	c.(628-630)atT>atA	p.I210I	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.I111I	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	210										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCCTAGGATTCTTGTCACGC	0.537																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(628-630)atT>atA		family with sequence similarity 71, member F1							128.0	116.0	120.0					7																	128359080		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128359080T>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.630T>A	7.37:g.128359080T>A						FAM71F1_ENST00000485070.1_Silent_p.I111I|FAM71F1_ENST00000469348.1_3'UTR	p.I210I	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			3	683	+			210					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.630T>A	CCDS5804.1																																																																																				0.537	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		5	108	0	0	0	0.014758	0	5	108				
ZNF337	26152	broad.mit.edu	37	20	25657009	25657009	+	Silent	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:25657009G>C	ENST00000376436.1	-	4	1454	c.915C>G	c.(913-915)tcC>tcG	p.S305S	ZNF337_ENST00000538750.1_Silent_p.S273S|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.S305S|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTGTATGAGGACTTATCGT	0.473																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(913-915)tcC>tcG		zinc finger protein 337							160.0	156.0	157.0					20																	25657009		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25657009G>C		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.915C>G	20.37:g.25657009G>C						ZNF337_ENST00000538750.1_Silent_p.S273S|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.S305S|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	p.S305S							4	1454	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.915C>G	CCDS13174.1																																																																																				0.473	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			79	127	0	0	0	0.139131	0	79	127				
RUNX1T1	862	broad.mit.edu	37	8	93027012	93027012	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:93027012T>C	ENST00000523629.1	-	4	717	c.263A>G	c.(262-264)aAt>aGt	p.N88S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.N88S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.N99S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.N61S|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.N61S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.N51S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	88					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGGGCGCCATTCAAGGCTGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(262-264)aAt>aGt		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							49.0	53.0	52.0					8																	93027012		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93027012T>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.263A>G	8.37:g.93027012T>C	ENSP00000428543:p.Asn88Ser					RUNX1T1_ENST00000396218.1_Missense_Mutation_p.N61S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.N99S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.N88S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.N61S	p.N88S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	717	-			88					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.263A>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593393	0.66219	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375	T;T;T;T;T;T;T;T;T;T;T	0.47869	1.38;1.39;1.38;1.4;1.4;1.4;1.36;1.39;0.88;0.83;1.48	6.05	6.05	0.98169	.	0.114138	0.64402	D	0.000001	T	0.62672	0.2447	L	0.45137	1.4	0.80722	D	1	B;D;B;D;B	0.89917	0.26;0.998;0.044;1.0;0.073	B;D;B;D;B	0.85130	0.196;0.995;0.045;0.997;0.098	T	0.62613	-0.6817	10	0.52906	T	0.07	-15.7159	16.5932	0.84781	0.0:0.0:0.0:1.0	.	99;99;61;88;61	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	S	88;61;88;51;51;51;99;61;51;88;51;88;51;88;88;61;51;51;88;88;61;61;88	ENSP00000428543:N88S;ENSP00000379520:N61S;ENSP00000265814:N88S;ENSP00000353504:N51S;ENSP00000390137:N51S;ENSP00000428742:N51S;ENSP00000402257:N99S;ENSP00000430728:N61S;ENSP00000429728:N51S;ENSP00000431094:N88S;ENSP00000427763:N51S	ENSP00000265814:N88S	N	-	2	0	RUNX1T1	93096188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.320000	0.78422	0.528000	0.53228	AAT		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		3	46	0	0	0	0.014758	0	3	46				
KIAA0020	9933	broad.mit.edu	37	9	2829887	2829887	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:2829887G>A	ENST00000397885.2	-	8	945	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	247	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCGCATGCCGCAGCATCTTC	0.438																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(739-741)Cgg>Tgg		KIAA0020							218.0	190.0	199.0					9																	2829887		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829887G>A	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.739C>T	9.37:g.2829887G>A	ENSP00000380982:p.Arg247Trp					KIAA0020_ENST00000469168.1_5'UTR	p.R247W	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	945	-			247			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.739C>T	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213862	0.58452	.	.	ENSG00000080608	ENST00000397885	T	0.69306	-0.39	6.17	3.16	0.36331	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.76328	2.33	0.80722	D	1	P;B	0.40107	0.703;0.403	B;B	0.32762	0.152;0.067	T	0.67169	-0.5738	10	0.62326	D	0.03	-27.9317	15.4976	0.75666	0.0:0.0:0.5909:0.4091	.	107;247	B2RDG4;Q15397	.;K0020_HUMAN	W	247	ENSP00000380982:R247W	ENSP00000380982:R247W	R	-	1	2	KIAA0020	2819887	0.999000	0.42202	0.997000	0.53966	0.976000	0.68499	2.875000	0.48491	0.347000	0.23924	0.655000	0.94253	CGG		0.438	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		5	122	0	0	0	0.014758	0	5	122				
ERICH3	127254	broad.mit.edu	37	1	75037078	75037078	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:75037078C>T	ENST00000326665.5	-	14	4534	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1439	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGAGGTCTTCCGCTCCAGGGC	0.612																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4315-4317)cGg>cAg		chromosome 1 open reading frame 173							98.0	100.0	99.0					1																	75037078		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037078C>T																												ENST00000326665.5:c.4316G>A	1.37:g.75037078C>T	ENSP00000322609:p.Arg1439Gln					C1orf173_ENST00000433746.2_5'UTR	p.R1439Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4534	-			1439			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4316G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903377	0.17760	.	.	ENSG00000178965	ENST00000326665	T	0.13196	2.61	4.32	-4.11	0.03928	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.24186	0.099	B	0.19391	0.025	T	0.47302	-0.9128	9	0.13853	T	0.58	0.217	2.4548	0.04527	0.1196:0.3352:0.1179:0.4273	.	1439	Q5RHP9	CA173_HUMAN	Q	1439	ENSP00000322609:R1439Q	ENSP00000322609:R1439Q	R	-	2	0	C1orf173	74809666	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.671000	0.05250	-0.253000	0.09514	-0.224000	0.12420	CGG		0.612	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			14	126	0	0	0	0.105934	0	14	126				
FOXM1	2305	broad.mit.edu	37	12	2968408	2968408	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:2968408G>A	ENST00000359843.3	-	9	1756	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Missense_Mutation_p.S548L|FOXM1_ENST00000342628.2_Missense_Mutation_p.S601L|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	563					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGCCCCTCTGAGAAGAGCAG	0.612																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1801-1803)tCa>tTa		forkhead box M1							42.0	42.0	42.0					12																	2968408		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968408G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1688C>T	12.37:g.2968408G>A	ENSP00000352901:p.Ser563Leu					ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.S563L|FOXM1_ENST00000361953.3_Missense_Mutation_p.S548L	p.S601L	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	1915	-			563					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1802C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596933	0.66332	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93604	-3.2;-3.25;-3.17	4.24	4.24	0.50183	.	0.196542	0.44097	D	0.000485	D	0.91563	0.7335	L	0.51422	1.61	0.37094	D	0.899584	B;P;P;P;P	0.45283	0.126;0.855;0.576;0.855;0.716	B;P;B;P;B	0.44394	0.08;0.448;0.234;0.448;0.311	D	0.92942	0.6373	10	0.42905	T	0.14	.	14.3153	0.66446	0.0:0.0:1.0:0.0	.	547;563;548;563;601	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	L	601;548;563	ENSP00000342307:S601L;ENSP00000354492:S548L;ENSP00000352901:S563L	ENSP00000342307:S601L	S	-	2	0	FOXM1	2838669	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	6.296000	0.72751	2.369000	0.80426	0.561000	0.74099	TCA		0.612	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		20	30	0	0	0	0.043863	0	20	30				
HEATR1	55127	broad.mit.edu	37	1	236718636	236718636	+	Silent	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:236718636A>G	ENST00000366582.3	-	41	5997	c.5883T>C	c.(5881-5883)ccT>ccC	p.P1961P	HEATR1_ENST00000366581.2_Silent_p.P1880P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1961					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTCAGCAAAAGGCTTCACTA	0.483																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5881-5883)ccT>ccC		HEAT repeat containing 1							120.0	117.0	118.0					1																	236718636		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236718636A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5883T>C	1.37:g.236718636A>G						HEATR1_ENST00000366581.2_Silent_p.P1880P	p.P1961P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		41	5997	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1961					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.5883T>C	CCDS31066.1																																																																																				0.483	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	122	0	0	0	0.115264	0	3	122				
HBP1	26959	broad.mit.edu	37	7	106826251	106826251	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:106826251C>G	ENST00000222574.4	+	4	590	c.404C>G	c.(403-405)tCt>tGt	p.S135C	HBP1_ENST00000468410.1_Missense_Mutation_p.S135C|HBP1_ENST00000485846.1_Missense_Mutation_p.S135C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	135					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TTTAGATCATCTCCTGTACAC	0.393																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(403-405)tCt>tGt		HMG-box transcription factor 1							182.0	170.0	174.0					7																	106826251		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826251C>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.404C>G	7.37:g.106826251C>G	ENSP00000222574:p.Ser135Cys					HBP1_ENST00000485846.1_Missense_Mutation_p.S135C|HBP1_ENST00000468410.1_Missense_Mutation_p.S135C	p.S135C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			4	590	+			135					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.404C>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846378	0.91277	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99311	-5.73;-5.73;-5.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	L	0.29908	0.895	0.80722	D	1	D;P;P	0.76494	0.999;0.896;0.833	D;P;B	0.80764	0.994;0.591;0.387	D	0.99927	1.1291	10	0.87932	D	0	-12.7874	20.8794	0.99867	0.0:1.0:0.0:0.0	.	145;135;135	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	C	135;135;135;127	ENSP00000420500:S135C;ENSP00000222574:S135C;ENSP00000418738:S135C	ENSP00000222574:S135C	S	+	2	0	HBP1	106613487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	TCT		0.393	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		54	85	0	0	0	0.139131	0	54	85				
FBXW7	55294	broad.mit.edu	37	4	153249401	153249401	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:153249401C>T	ENST00000281708.4	-	9	2606	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	FBXW7_ENST00000263981.5_Silent_p.G379G|FBXW7_ENST00000393956.3_Silent_p.G283G|FBXW7_ENST00000603841.1_Silent_p.G459G|FBXW7_ENST00000296555.5_Silent_p.G341G|FBXW7_ENST00000603548.1_Silent_p.G459G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	459					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGAAGTATGCCCATATAAGG	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1375-1377)ggG>ggA		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							288.0	244.0	259.0					4																	153249401		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249401C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1377G>A	4.37:g.153249401C>T						FBXW7_ENST00000603548.1_Silent_p.G459G|FBXW7_ENST00000263981.5_Silent_p.G379G|FBXW7_ENST00000603841.1_Silent_p.G459G|FBXW7_ENST00000296555.5_Silent_p.G341G|FBXW7_ENST00000393956.3_Silent_p.G283G	p.G459G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2606	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	459					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1377G>A	CCDS3777.1																																																																																				0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			4	184	0	0	0	0.150653	0	4	184				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	95	0	0	0	0.115264	0	3	95				
IL12RB2	3595	broad.mit.edu	37	1	67787297	67787297	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:67787297G>C	ENST00000262345.1	+	3	729	c.89G>C	c.(88-90)aGa>aCa	p.R30T	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R30T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	30					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GCGTGCAAGAGAGGCGATGTG	0.393																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(88-90)aGa>aCa		interleukin 12 receptor, beta 2							117.0	107.0	110.0					1																	67787297		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787297G>C	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.89G>C	1.37:g.67787297G>C	ENSP00000262345:p.Arg30Thr					IL12RB2_ENST00000544434.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R30T	p.R30T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			3	729	+			30					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.89G>C	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	9.399	1.077446	0.20227	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.35	1.85	0.25348	Immunoglobulin C2-set-like, ligand-binding (1);	0.374260	0.25897	N	0.027585	T	0.50582	0.1624	L	0.32530	0.975	0.24148	N	0.995706	B;P;P;P	0.51351	0.425;0.944;0.763;0.801	B;P;B;P	0.50659	0.233;0.647;0.288;0.516	T	0.47195	-0.9136	10	0.14252	T	0.57	-6.7096	4.8425	0.13498	0.2087:0.0:0.6102:0.1811	.	30;30;30;30	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	T	30	ENSP00000262345:R30T;ENSP00000360039:R30T;ENSP00000445276:R30T;ENSP00000442443:R30T	ENSP00000262345:R30T	R	+	2	0	IL12RB2	67559885	0.119000	0.22226	0.979000	0.43373	0.004000	0.04260	-0.279000	0.08479	0.584000	0.29591	0.591000	0.81541	AGA		0.393	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		33	66	0	0	0	0.173368	0	33	66				
LCTL	197021	broad.mit.edu	37	15	66855887	66855887	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:66855887G>A	ENST00000341509.5	-	4	578	c.447C>T	c.(445-447)ccC>ccT	p.P149P	LCTL_ENST00000563438.1_5'Flank|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	149					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGTCACGATGGGAGTGATGT	0.527																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(445-447)ccC>ccT		lactase-like							163.0	133.0	143.0					15																	66855887		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66855887G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.447C>T	15.37:g.66855887G>A						LCTL_ENST00000537670.1_5'UTR	p.P149P	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			4	578	-			149					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.447C>T	CCDS10220.1																																																																																				0.527	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		20	34	0	0	0	0.076483	0	20	34				
KIAA1407	57577	broad.mit.edu	37	3	113684007	113684007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:113684007C>T	ENST00000295878.3	-	17	2952	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	936										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTGGCTCATTCGTTCACCAGA	0.438																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2806-2808)Gaa>Aaa		KIAA1407							110.0	112.0	111.0					3																	113684007		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113684007C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2806G>A	3.37:g.113684007C>T	ENSP00000295878:p.Glu936Lys						p.E936K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2952	-			936					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2806G>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	c	7.112	0.576224	0.13686	.	.	ENSG00000163617	ENST00000295878	T	0.32753	1.44	3.03	-3.32	0.04973	.	.	.	.	.	T	0.12092	0.0294	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23048	-1.0199	9	0.87932	D	0	.	1.6434	0.02757	0.1153:0.3241:0.2344:0.3263	.	936	Q8NCU4	K1407_HUMAN	K	936	ENSP00000295878:E936K	ENSP00000295878:E936K	E	-	1	0	KIAA1407	115166697	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.229000	0.09098	-0.554000	0.06150	-0.864000	0.03007	GAA		0.438	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		20	111	0	0	0	0.076483	0	20	111				
RRP15	51018	broad.mit.edu	37	1	218475717	218475717	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:218475717G>T	ENST00000366932.3	+	2	251	c.221G>T	c.(220-222)tGt>tTt	p.C74F	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	74						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCTGAGCCCTGTGACAAAGAA	0.428																																						ENST00000366932.3																		ACBD6/RRP15(2)	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(220-222)tGt>tTt		ribosomal RNA processing 15 homolog (S. cerevisiae)							142.0	146.0	145.0					1																	218475717		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218475717G>T		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.221G>T	1.37:g.218475717G>T	ENSP00000355899:p.Cys74Phe					RRP15_ENST00000491428.1_3'UTR	p.C74F	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	2	251	+			74						Missense_Mutation	SNP	ENST00000366932.3	37	c.221G>T	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458074	0.12342	.	.	ENSG00000067533	ENST00000366932	T	0.22539	1.95	5.87	-2.72	0.05968	.	1.307360	0.04354	N	0.356162	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	10	0.49607	T	0.09	-8.897	2.3207	0.04209	0.3724:0.0805:0.3363:0.2108	.	74	Q9Y3B9	RRP15_HUMAN	F	74	ENSP00000355899:C74F	ENSP00000355899:C74F	C	+	2	0	RRP15	216542340	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.488000	0.02308	-0.357000	0.08175	-1.225000	0.01585	TGT		0.428	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		23	30	1	0	1.64293e-13	0.083992	1.76615e-13	23	30				
DDX60L	91351	broad.mit.edu	37	4	169383027	169383027	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:169383027C>T	ENST00000511577.1	-	5	676	c.429G>A	c.(427-429)ctG>ctA	p.L143L	DDX60L_ENST00000260184.7_Silent_p.L143L|DDX60L_ENST00000505890.1_Silent_p.L143L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	143							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGAAACTATCAGAAAATACG	0.378																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(427-429)ctG>ctA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							57.0	52.0	53.0					4																	169383027		1853	4088	5941	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169383027C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.429G>A	4.37:g.169383027C>T						DDX60L_ENST00000505890.1_Silent_p.L143L|DDX60L_ENST00000260184.7_Silent_p.L143L	p.L143L			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	5	676	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	143					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.429G>A																																																																																					0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		4	13	0	0	0	0.021553	0	4	13				
TMEM222	84065	broad.mit.edu	37	1	27657224	27657224	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:27657224A>G	ENST00000374076.4	+	2	246	c.208A>G	c.(208-210)Atc>Gtc	p.I70V	TMEM222_ENST00000608611.1_Missense_Mutation_p.I37V	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	70						integral component of membrane (GO:0016021)		p.I70V(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GTTTTTCCCCATCATCGGCCA	0.582																																						ENST00000374076.4																			1	Substitution - Missense(1)	p.I70V(1)	endometrium(1)	biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(208-210)Atc>Gtc		transmembrane protein 222							156.0	163.0	161.0					1																	27657224		2203	4300	6503	SO:0001583	missense	84065					integral to membrane	protein binding	g.chr1:27657224A>G	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.208A>G	1.37:g.27657224A>G	ENSP00000363189:p.Ile70Val						p.I70V	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN			2	246	+			70					D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	37	c.208A>G	CCDS297.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.25|13.25	2.181139|2.181139	0.38511|0.38511	.|.	.|.	ENSG00000186501|ENSG00000186501	ENST00000466759;ENST00000464813|ENST00000374076;ENST00000374073;ENST00000498220	.|.	.|.	.|.	5.0|5.0	2.63|2.63	0.31362|0.31362	.|.	.|0.051094	.|0.85682	.|D	.|0.000000	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.16478|0.16478	0.41|0.41	0.34279|0.34279	D|D	0.68194|0.68194	.|B	.|0.11235	.|0.004	.|B	.|0.13407	.|0.009	T|T	0.14952|0.14952	-1.0454|-1.0454	5|9	.|0.52906	.|T	.|0.07	-33.7187|-33.7187	5.0582|5.0582	0.14544|0.14544	0.6429:0.0:0.0758:0.2813|0.6429:0.0:0.0758:0.2813	.|.	.|70	.|Q9H0R3	.|TM222_HUMAN	R|V	51;42|70;37;36	.|.	.|ENSP00000363186:I37V	H|I	+|+	2|1	0|0	TMEM222|TMEM222	27529811|27529811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.803000|2.803000	0.47924|0.47924	0.372000|0.372000	0.24591|0.24591	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.582	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		74	148	0	0	0	0.139131	0	74	148				
PRPF8	10594	broad.mit.edu	37	17	1582626	1582626	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:1582626C>T	ENST00000572621.1	-	9	1633	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1366-1368)ctG>ctA		pre-mRNA processing factor 8							76.0	82.0	80.0					17																	1582626		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582626C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1368G>A	17.37:g.1582626C>T						PRPF8_ENST00000304992.6_Silent_p.L456L	p.L456L			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	9	1633	-			456					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.1368G>A	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			38	66	0	0	0	0.080422	0	38	66				
LOC220729	220729	broad.mit.edu	37	3	197346715	197346715	+	RNA	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:197346715C>T	ENST00000418868.1	-	0	729					NR_003266.2																						TCAGGAGATCCAAGGCAAAAT	0.423																																						ENST00000418868.1																			0																																																			220729							g.chr3:197346715C>T																													3.37:g.197346715C>T								NR_003266.2						0	729	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.423	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	38	0	0	0	0.014758	0	5	38				
C15orf52	388115	broad.mit.edu	37	15	40627456	40627456	+	Missense_Mutation	SNP	G	G	C	rs558204056		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:40627456G>C	ENST00000559313.1	-	11	1523	c.1508C>G	c.(1507-1509)cCg>cGg	p.P503R	C15orf52_ENST00000397536.2_Missense_Mutation_p.P293R	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	503							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CCGGCTTCTCGGGGCCAGGCC	0.667																																						ENST00000397536.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(877-879)cCg>cGg		chromosome 15 open reading frame 52							70.0	84.0	79.0					15																	40627456		2203	4298	6501	SO:0001583	missense	388115							g.chr15:40627456G>C	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1508C>G	15.37:g.40627456G>C	ENSP00000453969:p.Pro503Arg					C15orf52_ENST00000559313.1_Missense_Mutation_p.P503R	p.P293R			Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	7	913	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	503					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.878C>G	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695910	0.30052	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	-9.99	0.00435	.	0.963940	0.08533	N	0.931775	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	P;P	0.45715	0.716;0.865	P;P	0.52823	0.598;0.71	T	0.37957	-0.9683	9	0.56958	D	0.05	0.3564	3.9089	0.09194	0.1406:0.086:0.2546:0.5189	.	293;503	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	R	503;293	.	ENSP00000372135:P503R	P	-	2	0	C15orf52	38414748	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.262000	0.02852	-1.134000	0.02899	-1.595000	0.00837	CCG		0.667	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		5	127	0	0	0	0.014758	0	5	127				
MAEA	10296	broad.mit.edu	37	4	1326563	1326563	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:1326563C>A	ENST00000303400.4	+	6	738	c.675C>A	c.(673-675)ttC>ttA	p.F225L	MAEA_ENST00000452175.2_Missense_Mutation_p.F146L|MAEA_ENST00000264750.6_Missense_Mutation_p.F184L|MAEA_ENST00000505839.1_Missense_Mutation_p.F177L|MAEA_ENST00000510794.1_Missense_Mutation_p.F224L|MAEA_ENST00000514708.1_Missense_Mutation_p.Q159K|MAEA_ENST00000505177.2_Missense_Mutation_p.F263L|MAEA_ENST00000512289.1_3'UTR	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	225					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GAAAGCACTTCAGCCAAGCAG	0.517																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(673-675)ttC>ttA		macrophage erythroblast attacher							49.0	44.0	46.0					4																	1326563		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1326563C>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.675C>A	4.37:g.1326563C>A	ENSP00000302830:p.Phe225Leu					MAEA_ENST00000510794.1_Missense_Mutation_p.F224L|MAEA_ENST00000505839.1_Missense_Mutation_p.F177L|MAEA_ENST00000264750.6_Missense_Mutation_p.F184L|MAEA_ENST00000452175.2_Missense_Mutation_p.F146L|MAEA_ENST00000505177.2_Missense_Mutation_p.F263L|MAEA_ENST00000514708.1_Missense_Mutation_p.Q159K|MAEA_ENST00000512289.1_3'UTR	p.F225L	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		6	738	+			225					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.675C>A	CCDS33936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.61|15.61	2.884253|2.884253	0.51908|0.51908	.|.	.|.	ENSG00000090316|ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839|ENST00000503653;ENST00000382947;ENST00000514708	T;T;T;T;T;T|T;T	0.37235|0.42131	1.27;1.28;1.21;1.38;1.28;1.27|1.07;0.98	5.35|5.35	5.35|5.35	0.76521|0.76521	Ran binding protein-like, CRA domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38931|0.38931	0.1059|0.1059	N|N	0.03948|0.03948	-0.315|-0.315	0.80722|0.80722	D|D	1|1	B;B;B;B|D	0.23806|0.54964	0.083;0.091;0.067;0.017|0.969	B;B;B;B|D	0.38803|0.64877	0.137;0.282;0.084;0.059|0.93	T|T	0.50964|0.50964	-0.8765|-0.8765	10|9	0.12103|0.52906	T|T	0.63|0.07	-16.9335|-16.9335	13.3663|13.3663	0.60687|0.60687	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	224;263;184;225|159	B4DVN3;E7ESC7;Q7L5Y9-3;Q7L5Y9|D6RIB6	.;.;.;MAEA_HUMAN|.	L|K	225;263;184;204;157;146;224;177|200;159;159	ENSP00000302830:F225L;ENSP00000422215:F263L;ENSP00000264750:F184L;ENSP00000426903:F157L;ENSP00000411415:F146L;ENSP00000426807:F224L|ENSP00000421644:Q200K;ENSP00000427512:Q159K	ENSP00000264750:F184L|ENSP00000372405:Q159K	F|Q	+|+	3|1	2|0	MAEA|MAEA	1316563|1316563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.580000|4.580000	0.60942|0.60942	2.487000|2.487000	0.83934|0.83934	0.655000|0.655000	0.94253|0.94253	TTC|CAG		0.517	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		10	26	1	0	3.07112e-06	0.080935	3.16307e-06	10	26				
ANO2	57101	broad.mit.edu	37	12	6031929	6031929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:6031929G>A	ENST00000356134.5	-	2	123	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	ANO2_ENST00000546188.1_Nonsense_Mutation_p.Q18*|ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q18*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	22					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GACCCTGCCTGAGGGCTCAGC	0.622																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(52-54)Cag>Tag		anoctamin 2							23.0	27.0	26.0					12																	6031929		1882	4102	5984	SO:0001587	stop_gained	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6031929G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.52C>T	12.37:g.6031929G>A	ENSP00000348453:p.Gln18*					ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q18*|ANO2_ENST00000356134.5_Nonsense_Mutation_p.Q18*	p.Q18*			Q9NQ90	ANO2_HUMAN			2	123	-			22					C4N787|Q9H847	Nonsense_Mutation	SNP	ENST00000356134.5	37	c.52C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.176455	0.94846	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	4.36	1.4	0.22301	.	0.749130	0.10966	N	0.614433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	4.9962	0.14240	0.1014:0.0:0.53:0.3685	.	.	.	.	X	18;18;18;22	.	ENSP00000314048:Q18X	Q	-	1	0	ANO2	5902190	0.004000	0.15560	0.100000	0.21137	0.564000	0.35744	0.869000	0.27996	0.097000	0.17492	0.561000	0.74099	CAG		0.622	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		10	18	0	0	0	0.093190	0	10	18				
AFF1	4299	broad.mit.edu	37	4	88047256	88047256	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:88047256C>T	ENST00000307808.6	+	13	2978	c.2558C>T	c.(2557-2559)tCc>tTc	p.S853F	AFF1_ENST00000395146.4_Missense_Mutation_p.S860F|AFF1_ENST00000544085.1_Missense_Mutation_p.S491F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	853					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCAGGCCCTCCAGGCCCTCC	0.537																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2557-2559)tCc>tTc		AF4/FMR2 family, member 1							81.0	86.0	84.0					4																	88047256		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047256C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2558C>T	4.37:g.88047256C>T	ENSP00000305689:p.Ser853Phe					AFF1_ENST00000544085.1_Missense_Mutation_p.S491F|AFF1_ENST00000395146.4_Missense_Mutation_p.S860F	p.S853F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	2978	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	853					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2558C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667212	0.03428	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.72615	-0.67;-0.67;-0.67	5.47	1.64	0.23874	.	1.648030	0.02901	N	0.135377	T	0.66809	0.2827	L	0.49126	1.545	0.09310	N	1	B;B;B	0.33777	0.425;0.425;0.425	B;B;B	0.36608	0.229;0.229;0.229	T	0.51655	-0.8678	10	0.66056	D	0.02	-1.5565	3.913	0.09211	0.231:0.5278:0.1146:0.1266	.	860;853;853	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	F	860;853;491	ENSP00000378578:S860F;ENSP00000305689:S853F;ENSP00000440843:S491F	ENSP00000305689:S853F	S	+	2	0	AFF1	88266280	0.000000	0.05858	0.016000	0.15963	0.001000	0.01503	-0.414000	0.07114	0.001000	0.14605	-0.856000	0.03024	TCC		0.537	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		50	69	0	0	0	0.139131	0	50	69				
GSTK1	373156	broad.mit.edu	37	7	142965251	142965251	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:142965251G>A	ENST00000358406.5	+	7	676	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	GSTK1_ENST00000409500.3_Missense_Mutation_p.R190Q|GSTK1_ENST00000443571.2_Missense_Mutation_p.R159Q|GSTK1_ENST00000479303.1_Missense_Mutation_p.R258Q|AC073342.12_ENST00000427392.1_RNA	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	202					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGCTCTGACCGGATGGAGCTG	0.552																																						ENST00000479303.1																			0				lung(4)	4						c.(772-774)cGg>cAg		glutathione S-transferase kappa 1	Glutathione(DB00143)						241.0	240.0	240.0					7																	142965251		2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142965251G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.605G>A	7.37:g.142965251G>A	ENSP00000351181:p.Arg202Gln					GSTK1_ENST00000409500.3_Missense_Mutation_p.R190Q|GSTK1_ENST00000358406.5_Missense_Mutation_p.R202Q|GSTK1_ENST00000443571.2_Missense_Mutation_p.R159Q|AC073342.12_ENST00000427392.1_RNA	p.R258Q	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN			6	831	+	Melanoma(164;0.059)		202					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.773G>A	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333993	0.95758	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	5.78	0.91487	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.073930	0.64402	D	0.000002	D	0.86234	0.5884	M	0.92412	3.305	0.53005	D	0.999967	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.88249	0.2915	9	0.56958	D	0.05	-37.9583	17.573	0.87940	0.0:0.0:1.0:0.0	.	190;159;258;202	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	Q	190;159;202;258	.	ENSP00000351181:R202Q	R	+	2	0	GSTK1	142675373	0.992000	0.36948	0.999000	0.59377	0.980000	0.70556	3.638000	0.54332	2.760000	0.94817	0.644000	0.83932	CGG		0.552	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		5	325	0	0	0	0.014758	0	5	325				
SETD5	55209	broad.mit.edu	37	3	9476528	9476528	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:9476528T>G	ENST00000406341.1	+	5	540	c.350T>G	c.(349-351)gTt>gGt	p.V117G	SETD5_ENST00000302463.6_Missense_Mutation_p.V6G|SETD5_ENST00000402198.1_Missense_Mutation_p.V117G|SETD5_ENST00000407969.1_Missense_Mutation_p.V136G|SETD5_ENST00000402466.1_Missense_Mutation_p.V6G			Q9C0A6	SETD5_HUMAN	SET domain containing 5	117										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGGGAAGGTTATTAGACTT	0.438																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(16-18)gTt>gGt		SET domain containing 5							76.0	74.0	75.0					3																	9476528		1951	4166	6117	SO:0001583	missense	55209							g.chr3:9476528T>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.350T>G	3.37:g.9476528T>G	ENSP00000383939:p.Val117Gly					SETD5_ENST00000407969.1_Missense_Mutation_p.V136G|SETD5_ENST00000302463.6_Missense_Mutation_p.V6G|SETD5_ENST00000406341.1_Missense_Mutation_p.V117G|SETD5_ENST00000402198.1_Missense_Mutation_p.V117G	p.V6G			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	6	785	+	Medulloblastoma(99;0.227)		117					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.17T>G	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	T	8.832	0.940092	0.18281	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;D;D;D;D;T;D	0.92397	1.5;-2.65;-3.03;-2.65;-2.66;0.88;-3.03	5.46	5.46	0.80206	.	0.067837	0.64402	D	0.000018	D	0.85287	0.5662	N	0.17474	0.49	0.58432	D	0.999998	B;B;B	0.31077	0.296;0.307;0.059	B;B;B	0.27380	0.079;0.031;0.019	D	0.83985	0.0334	10	0.39692	T	0.17	-1.6519	15.8134	0.78581	0.0:0.0:0.0:1.0	.	6;117;136	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	G	117;117;6;117;136;6;6	ENSP00000413786:V117G;ENSP00000385852:V117G;ENSP00000384429:V6G;ENSP00000383939:V117G;ENSP00000384114:V136G;ENSP00000408837:V6G;ENSP00000302028:V6G	ENSP00000302028:V6G	V	+	2	0	SETD5	9451528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.348000	0.66004	2.196000	0.70406	0.482000	0.46254	GTT		0.438	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		9	31	0	0	0	0.093190	0	9	31				
NHLRC1	378884	broad.mit.edu	37	6	18122141	18122141	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:18122141C>G	ENST00000340650.3	-	1	710	c.697G>C	c.(697-699)Gat>Cat	p.D233H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	233			D -> A (in EPM2). {ECO:0000269|PubMed:15781812}.		autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCCTCCGCATCAGTTACCACA	0.542																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(697-699)Gat>Cat		NHL repeat containing 1							47.0	50.0	49.0					6																	18122141		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122141C>G	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.697G>C	6.37:g.18122141C>G	ENSP00000345464:p.Asp233His						p.D233H	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	710	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	233		D -> A (in EPM2).			Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.697G>C	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986657	0.53934	.	.	ENSG00000187566	ENST00000340650	D	0.92495	-3.05	4.99	4.99	0.66335	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	M	0.85373	2.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.96782	0.9576	10	0.87932	D	0	-15.6227	17.8796	0.88837	0.0:1.0:0.0:0.0	.	233	Q6VVB1	NHLC1_HUMAN	H	233	ENSP00000345464:D233H	ENSP00000345464:D233H	D	-	1	0	NHLRC1	18230120	1.000000	0.71417	0.066000	0.19879	0.271000	0.26615	7.114000	0.77103	2.301000	0.77427	0.655000	0.94253	GAT		0.542	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			12	38	0	0	0	0.132662	0	12	38				
PLEC	5339	broad.mit.edu	37	8	144992204	144992204	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:144992204G>A	ENST00000322810.4	-	32	12365	c.12196C>T	c.(12196-12198)Ctg>Ttg	p.L4066L	PLEC_ENST00000345136.3_Silent_p.L3929L|PLEC_ENST00000527096.1_Silent_p.L3952L|PLEC_ENST00000354589.3_Silent_p.L3929L|PLEC_ENST00000398774.2_Silent_p.L3897L|PLEC_ENST00000356346.3_Silent_p.L3915L|PLEC_ENST00000436759.2_Silent_p.L3956L|PLEC_ENST00000354958.2_Silent_p.L3907L|PLEC_ENST00000357649.2_Silent_p.L3933L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4066	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCCTTCCAGGAACTTCTGC	0.642																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12196-12198)Ctg>Ttg		plectin							14.0	17.0	16.0					8																	144992204		2075	4214	6289	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992204G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12196C>T	8.37:g.144992204G>A						PLEC_ENST00000527096.1_Silent_p.L3952L|PLEC_ENST00000354958.2_Silent_p.L3907L|PLEC_ENST00000436759.2_Silent_p.L3956L|PLEC_ENST00000357649.2_Silent_p.L3933L|PLEC_ENST00000345136.3_Silent_p.L3929L|PLEC_ENST00000354589.3_Silent_p.L3929L|PLEC_ENST00000398774.2_Silent_p.L3897L|PLEC_ENST00000356346.3_Silent_p.L3915L	p.L4066L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12365	-			4066			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12196C>T	CCDS43772.1																																																																																				0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	8	0	0	0	0.038147	0	7	8				
DMXL1	1657	broad.mit.edu	37	5	118533530	118533530	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:118533530G>A	ENST00000311085.8	+	32	7704	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E2542K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2542										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCGACGACTTGAAATCCATGG	0.443																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7624-7626)Gaa>Aaa		Dmx-like 1							136.0	135.0	136.0					5																	118533530		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533530G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7624G>A	5.37:g.118533530G>A	ENSP00000309690:p.Glu2542Lys					DMXL1_ENST00000539542.1_Missense_Mutation_p.E2542K	p.E2542K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7704	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2542						Missense_Mutation	SNP	ENST00000311085.8	37	c.7624G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936918	0.92458	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10668	2.86;2.85	5.41	5.41	0.78517	.	0.142736	0.64402	D	0.000007	T	0.30572	0.0769	M	0.68593	2.085	0.54753	D	0.999988	D;P	0.63880	0.993;0.899	P;P	0.60541	0.876;0.56	T	0.00419	-1.1751	10	0.48119	T	0.1	-20.3525	19.5578	0.95358	0.0:0.0:1.0:0.0	.	2542;2542	F5H269;Q9Y485	.;DMXL1_HUMAN	K	2542	ENSP00000309690:E2542K;ENSP00000439479:E2542K	ENSP00000309690:E2542K	E	+	1	0	DMXL1	118561429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.851000	0.69481	2.695000	0.91970	0.563000	0.77884	GAA		0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		73	73	0	0	0	0.139131	0	73	73				
FRAS1	80144	broad.mit.edu	37	4	79403092	79403092	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:79403092G>A	ENST00000264895.6	+	57	9018	c.8578G>A	c.(8578-8580)Gaa>Aaa	p.E2860K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2856	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCGGAAGGTGGAATTTGGGCC	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8578-8580)Gaa>Aaa		Fraser syndrome 1							101.0	105.0	104.0					4																	79403092		1965	4146	6111	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403092G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8578G>A	4.37:g.79403092G>A	ENSP00000264895:p.Glu2860Lys						p.E2860K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			57	9018	+			2855			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8578G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.61|18.61	3.660679|3.660679	0.67586|0.67586	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.27720|.	1.65|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.055452|.	0.64402|.	D|.	0.000001|.	T|T	0.73659|0.73659	0.3615|0.3615	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P|.	0.49358|.	0.923|.	P|.	0.58873|.	0.847|.	T|T	0.69862|0.69862	-0.5030|-0.5030	10|5	0.54805|.	T|.	0.06|.	.|.	19.8771|19.8771	0.96880|0.96880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2860|.	E9PHH6|.	.|.	K|E	2860|1088	ENSP00000264895:E2860K|.	ENSP00000264895:E2860K|.	E|G	+|+	1|2	0|0	FRAS1|FRAS1	79622116|79622116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	7.695000|7.695000	0.84257|0.84257	2.687000|2.687000	0.91594|0.91594	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	43	0	0	0	0.139131	0	49	43				
TPR	7175	broad.mit.edu	37	1	186327736	186327736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:186327736G>A	ENST00000367478.4	-	13	1732	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	479	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S480*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGTACAGATGATTGCTTGTT	0.318			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		1	Substitution - Nonsense(1)	p.S480*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1435-1437)tCa>tTa		translocated promoter region, nuclear basket protein							203.0	185.0	191.0					1																	186327736		1890	4126	6016	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186327736G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1436C>T	1.37:g.186327736G>A	ENSP00000356448:p.Ser479Leu					TPR_ENST00000474852.1_5'UTR	p.S479L	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	13	1732	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	479					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1436C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850255	0.71719	.	.	ENSG00000047410	ENST00000367478	T	0.00966	5.49	5.24	5.24	0.73138	.	0.139770	0.49916	D	0.000134	T	0.00815	0.0027	N	0.11201	0.11	0.48452	D	0.999652	B;B	0.24483	0.045;0.104	B;B	0.22386	0.019;0.039	T	0.63283	-0.6672	10	0.07644	T	0.81	.	18.8241	0.92109	0.0:0.0:1.0:0.0	.	479;479	Q15624;P12270	.;TPR_HUMAN	L	479	ENSP00000356448:S479L	ENSP00000356448:S479L	S	-	2	0	TPR	184594359	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.593000	0.82686	2.469000	0.83416	0.650000	0.86243	TCA		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		28	75	0	0	0	0.163468	0	28	75				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	82	0	0	0	0.029380	0	6	82				
NOL4L	140688	broad.mit.edu	37	20	31062481	31062481	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:31062481G>A	ENST00000359676.5	-	2	174	c.32C>T	c.(31-33)cCg>cTg	p.P11L	C20orf112_ENST00000326071.4_Missense_Mutation_p.P11L|C20orf112_ENST00000375677.1_Missense_Mutation_p.P33L|C20orf112_ENST00000375678.3_Missense_Mutation_p.P120L|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGCCAGGTGCGGGTCAGCTGA	0.597																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(31-33)cCg>cTg		chromosome 20 open reading frame 112							52.0	49.0	50.0					20																	31062481		2203	4300	6503	SO:0001583	missense	140688							g.chr20:31062481G>A																												ENST00000359676.5:c.32C>T	20.37:g.31062481G>A	ENSP00000352704:p.Pro11Leu					C20orf112_ENST00000375678.3_Missense_Mutation_p.P120L|C20orf112_ENST00000326071.4_Missense_Mutation_p.P11L|C20orf112_ENST00000375677.1_Missense_Mutation_p.P33L|C20orf112_ENST00000475781.1_5'UTR	p.P11L	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			2	174	-			11					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	c.32C>T	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530847	0.45073	.	.	ENSG00000197183	ENST00000359676;ENST00000397984;ENST00000326071;ENST00000375677;ENST00000375678	.	.	.	5.2	3.04	0.35103	.	0.492201	0.18730	N	0.132744	T	0.25494	0.0620	N	0.14661	0.345	0.80722	D	1	P;B	0.36412	0.552;0.05	B;B	0.29598	0.104;0.026	T	0.11324	-1.0592	9	0.72032	D	0.01	-13.0242	7.6021	0.28081	0.094:0.0:0.7021:0.2039	.	11;11	Q5JYB6;Q96MY1	.;CT112_HUMAN	L	11;11;11;33;120	.	ENSP00000317413:P11L	P	-	2	0	C20orf112	30526142	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.736000	0.47385	1.198000	0.43158	-0.254000	0.11334	CCG		0.597	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			12	23	0	0	0	0.093190	0	12	23				
CTSS	1520	broad.mit.edu	37	1	150724480	150724480	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724480G>T	ENST00000368985.3	-	5	664	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	CTSS_ENST00000448301.2_Missense_Mutation_p.S85Y|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	135					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACCACAAGAACCCTAAAA	0.493																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(403-405)tCt>tAt		cathepsin S							57.0	56.0	56.0					1																	150724480		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724480G>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.404C>A	1.37:g.150724480G>T	ENSP00000357981:p.Ser135Tyr					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.S85Y	p.S135Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	664	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		135					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.404C>A	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074413	0.36566	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;D	0.87966	-2.32;-2.32	4.91	3.99	0.46301	Peptidase C1A, papain C-terminal (3);	0.549759	0.20222	N	0.096667	T	0.82217	0.4989	L	0.34521	1.04	0.09310	N	0.999999	D;P	0.57899	0.981;0.822	P;P	0.57548	0.823;0.609	T	0.76509	-0.2933	10	0.59425	D	0.04	.	13.0369	0.58877	0.0:0.3093:0.6907:0.0	.	85;135	B4DWC9;P25774	.;CATS_HUMAN	Y	85;135	ENSP00000408414:S85Y;ENSP00000357981:S135Y	ENSP00000357981:S135Y	S	-	2	0	CTSS	148991104	0.548000	0.26473	0.971000	0.41717	0.990000	0.78478	3.718000	0.54919	1.188000	0.43014	0.650000	0.86243	TCT		0.493	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		15	28	1	0	6.31663e-08	0.132662	6.6654e-08	15	28				
RASAL2	9462	broad.mit.edu	37	1	178433454	178433454	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:178433454G>A	ENST00000462775.1	+	13	2996	c.2871G>A	c.(2869-2871)gaG>gaA	p.E957E	RASAL2_ENST00000448150.3_Silent_p.E1087E|RASAL2_ENST00000367649.3_Silent_p.E1098E	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	957					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCCAGTAGAGAGGACAGCAG	0.478																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3259-3261)gaG>gaA		RAS protein activator like 2							109.0	98.0	102.0					1																	178433454		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178433454G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2871G>A	1.37:g.178433454G>A						RASAL2_ENST00000462775.1_Silent_p.E957E|RASAL2_ENST00000367649.3_Silent_p.E1098E	p.E1087E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			15	4079	+			957					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.3261G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	9.222	1.033553	0.19590	.	.	ENSG00000075391	ENST00000433130	T	0.15952	2.38	5.48	3.19	0.36642	.	0.175200	0.47852	D	0.000217	T	0.29288	0.0729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01500	-1.1339	7	0.87932	D	0	.	9.2621	0.37619	0.3403:0.0:0.6597:0.0	.	.	.	.	K	508	ENSP00000402897:E508K	ENSP00000402897:E508K	E	+	1	0	RASAL2	176700077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	0.430000	0.26230	0.655000	0.94253	GAG		0.478	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		15	23	0	0	0	0.119110	0	15	23				
CORO6	84940	broad.mit.edu	37	17	27943185	27943185	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:27943185G>A	ENST00000445145.2	-	9	1072	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	CORO6_ENST00000577909.1_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Silent_p.L357L|CORO6_ENST00000580212.1_Silent_p.L317L|CORO6_ENST00000456796.3_Silent_p.L123L|CORO6_ENST00000584969.1_Silent_p.L357L|CORO6_ENST00000388767.3_Silent_p.L357L			Q6QEF8	CORO6_HUMAN	coronin 6	357					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGTCCTGGAAGAGGTCTGACT	0.667																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(1069-1071)ctC>ctT		coronin 6							30.0	34.0	32.0					17																	27943185		2202	4300	6502	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943185G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1071C>T	17.37:g.27943185G>A						RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Silent_p.L357L|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Silent_p.L357L|CORO6_ENST00000580212.1_Silent_p.L317L|CORO6_ENST00000456796.3_Silent_p.L123L|CORO6_ENST00000388767.3_Silent_p.L357L	p.L357L			Q6QEF8	CORO6_HUMAN			10	1284	-			357					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.1071C>T																																																																																					0.667	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		8	13	0	0	0	0.038147	0	8	13				
DDX60L	91351	broad.mit.edu	37	4	169383170	169383170	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:169383170C>T	ENST00000511577.1	-	5	533	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DDX60L_ENST00000260184.7_Missense_Mutation_p.D96N|DDX60L_ENST00000505890.1_Missense_Mutation_p.D96N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	96							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAGGAAAATCAAAATATGCA	0.348																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(286-288)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							83.0	82.0	82.0					4																	169383170		1847	4099	5946	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169383170C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.286G>A	4.37:g.169383170C>T	ENSP00000422423:p.Asp96Asn					DDX60L_ENST00000505890.1_Missense_Mutation_p.D96N|DDX60L_ENST00000260184.7_Missense_Mutation_p.D96N	p.D96N			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	5	533	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	96					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.286G>A		.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922767	0.02377	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696;ENST00000514748	T;T;T	0.17691	2.26;2.26;2.27	3.25	-5.27	0.02763	.	1.635120	0.04754	U	0.425072	T	0.08403	0.0209	N	0.20881	0.62	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.37820	-0.9689	10	0.05721	T	0.95	.	6.4997	0.22162	0.0:0.3558:0.2718:0.3724	.	96;96	D6R906;Q5H9U9	.;DDX6L_HUMAN	N	96	ENSP00000260184:D96N;ENSP00000422423:D96N;ENSP00000422202:D96N	ENSP00000260184:D96N	D	-	1	0	DDX60L	169619745	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-0.409000	0.07160	-1.194000	0.02684	0.313000	0.20887	GAT		0.348	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		7	10	0	0	0	0.029380	0	7	10				
LRRC3	81543	broad.mit.edu	37	21	45876816	45876816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr21:45876816C>T	ENST00000291592.4	+	2	606	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	97						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGATCTGTCTCACAACGCCAT	0.662																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(289-291)Cac>Tac		leucine rich repeat containing 3							38.0	41.0	40.0					21																	45876816		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876816C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.289C>T	21.37:g.45876816C>T	ENSP00000291592:p.His97Tyr						p.H97Y	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	606	+		Breast(209;0.00908)	97					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.289C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	5.441	0.266423	0.10294	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.90197	-2.63	4.82	2.85	0.33270	.	0.667321	0.14428	N	0.320192	T	0.79387	0.4437	N	0.11364	0.135	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.67043	-0.5770	10	0.32370	T	0.25	-11.3443	6.9623	0.24603	0.3445:0.5099:0.1457:0.0	.	97	Q9BY71	LRRC3_HUMAN	Y	97	ENSP00000291592:H97Y	ENSP00000291592:H97Y	H	+	1	0	LRRC3	44701244	0.000000	0.05858	0.041000	0.18516	0.004000	0.04260	-0.257000	0.08745	1.152000	0.42452	0.561000	0.74099	CAC		0.662	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			23	46	0	0	0	0.083992	0	23	46				
GPRC5C	55890	broad.mit.edu	37	17	72436363	72436363	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:72436363G>A	ENST00000392627.1	+	2	1709	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G162R	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	150					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GAAGAACCACGGGCCCCGGGG	0.597																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(583-585)Ggg>Agg		G protein-coupled receptor, family C, group 5, member C							60.0	70.0	66.0					17																	72436363		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436363G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.583G>A	17.37:g.72436363G>A	ENSP00000376403:p.Gly195Arg					GPRC5C_ENST00000392629.2_Missense_Mutation_p.G162R|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	p.G195R	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	1709	+			150					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.583G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219983	0.58560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.87334	-2.24	5.56	5.56	0.83823	GPCR, family 3, C-terminal (2);	0.103415	0.64402	D	0.000003	D	0.89546	0.6746	M	0.75777	2.31	0.45946	D	0.998772	P;P;P	0.41102	0.738;0.738;0.693	P;P;B	0.46940	0.532;0.532;0.397	D	0.90079	0.4169	10	0.59425	D	0.04	-7.8807	14.1699	0.65503	0.0:0.1496:0.8504:0.0	.	150;150;162	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	R	150;195;162;150	ENSP00000376405:G162R	ENSP00000340595:G195R	G	+	1	0	GPRC5C	69947958	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.478000	0.66806	2.618000	0.88619	0.561000	0.74099	GGG		0.597	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			4	101	0	0	0	0.150653	0	4	101				
ANK3	288	broad.mit.edu	37	10	61829440	61829440	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61829440C>T	ENST00000280772.2	-	37	11390	c.11199G>A	c.(11197-11199)atG>atA	p.M3733I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3733					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCTTTCTTCATGGTCATGG	0.428																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11197-11199)atG>atA		ankyrin 3, node of Ranvier (ankyrin G)							132.0	145.0	141.0					10																	61829440		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829440C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11199G>A	10.37:g.61829440C>T	ENSP00000280772:p.Met3733Ile					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.M3733I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11390	-			3733					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11199G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	7.233	0.599729	0.13939	.	.	ENSG00000151150	ENST00000280772	T	0.15718	2.4	5.3	5.3	0.74995	.	0.141043	0.32218	N	0.006404	T	0.12518	0.0304	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12268	-1.0554	10	0.25751	T	0.34	.	18.9548	0.92654	0.0:1.0:0.0:0.0	.	3733	Q12955	ANK3_HUMAN	I	3733	ENSP00000280772:M3733I	ENSP00000280772:M3733I	M	-	3	0	ANK3	61499446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.838000	0.62803	2.468000	0.83385	0.655000	0.94253	ATG		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		106	151	0	0	0	0.139131	0	106	151				
B2M	567	broad.mit.edu	37	15	45003747	45003747	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:45003747G>T	ENST00000558401.1	+	1	73	c.3G>T	c.(1-3)atG>atT	p.M1I	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I|B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.M1I(1)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612																																						ENST00000558401.1																			2	Substitution - Missense(1)|Unknown(1)	p.M1I(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(1-3)atG>atT		beta-2-microglobulin							127.0	93.0	104.0					15																	45003747		2198	4298	6496	SO:0001582	initiator_codon_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45003747G>T	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.3G>T	15.37:g.45003747G>T	ENSP00000452780:p.Met1Ile					B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I	p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	1	73	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	1					P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Translation_Start_Site	SNP	ENST00000558401.1	37	c.3G>T	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507871	0.85282	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01234	5.13	5.35	5.35	0.76521	.	.	.	.	.	T	0.03305	0.0096	.	.	.	0.80722	D	1	P;P;P	0.52463	0.925;0.953;0.877	P;P;B	0.47162	0.54;0.473;0.339	T	0.45381	-0.9265	8	0.87932	D	0	.	14.7506	0.69522	0.0:0.0:1.0:0.0	.	1;1;1	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	I	1	ENSP00000437604:M1I	ENSP00000340858:M1I	M	+	3	0	B2M	42791039	0.965000	0.33210	0.422000	0.26621	0.025000	0.11179	4.373000	0.59537	2.941000	0.99782	0.655000	0.94253	ATG		0.612	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	Missense_Mutation	20	17	1	0	1.96895e-08	0.076483	2.09049e-08	20	17				
COL5A1	1289	broad.mit.edu	37	9	137734077	137734077	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:137734077C>T	ENST00000371817.3	+	66	5859	c.5445C>T	c.(5443-5445)atC>atT	p.I1815I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1815	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGTGGACATCATGTTCAATG	0.582																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5443-5445)atC>atT		collagen, type V, alpha 1							130.0	124.0	126.0					9																	137734077		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137734077C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5445C>T	9.37:g.137734077C>T							p.I1815I	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	66	5859	+		Myeloproliferative disorder(178;0.0341)	1815			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5445C>T	CCDS6982.1																																																																																				0.582	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		14	25	0	0	0	0.119110	0	14	25				
ANK3	288	broad.mit.edu	37	10	61830234	61830234	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61830234C>T	ENST00000280772.2	-	37	10596	c.10405G>A	c.(10405-10407)Gag>Aag	p.E3469K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3469					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCCCTCCTCCTCGATAACT	0.448																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10405-10407)Gag>Aag		ankyrin 3, node of Ranvier (ankyrin G)							85.0	83.0	84.0					10																	61830234		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830234C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10405G>A	10.37:g.61830234C>T	ENSP00000280772:p.Glu3469Lys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.E3469K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	10596	-			3469					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10405G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286337	0.80803	.	.	ENSG00000151150	ENST00000280772	T	0.27557	1.66	5.64	5.64	0.86602	.	0.000000	0.42682	D	0.000676	T	0.51176	0.1659	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.43278	-0.9401	10	0.51188	T	0.08	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	3469	Q12955	ANK3_HUMAN	K	3469	ENSP00000280772:E3469K	ENSP00000280772:E3469K	E	-	1	0	ANK3	61500240	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.818000	0.86416	2.654000	0.90174	0.563000	0.77884	GAG		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		28	51	0	0	0	0.125774	0	28	51				
C10orf76	79591	broad.mit.edu	37	10	103799781	103799781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:103799781C>G	ENST00000370033.4	-	2	210	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	C10orf76_ENST00000311122.5_Missense_Mutation_p.E31Q	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGAAGATCTCATCATACATC	0.458																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(91-93)Gag>Cag		chromosome 10 open reading frame 76							157.0	150.0	152.0					10																	103799781		1894	4123	6017	SO:0001583	missense	79591					integral to membrane		g.chr10:103799781C>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.91G>C	10.37:g.103799781C>G	ENSP00000359050:p.Glu31Gln					C10orf76_ENST00000311122.5_Missense_Mutation_p.E31Q	p.E31Q	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	2	210	-		Colorectal(252;0.123)	31					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.91G>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731946	0.48939	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.19938	2.11;2.11	4.82	4.82	0.62117	.	0.213489	0.38959	N	0.001513	T	0.32941	0.0846	L	0.29908	0.895	0.80722	D	1	B;D	0.76494	0.003;0.999	B;D	0.69479	0.009;0.964	T	0.04191	-1.0970	10	0.21014	T	0.42	-12.1	17.8955	0.88886	0.0:1.0:0.0:0.0	.	31;31	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	Q	31	ENSP00000359050:E31Q;ENSP00000312408:E31Q	ENSP00000312408:E31Q	E	-	1	0	C10orf76	103789771	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.783000	0.85696	2.220000	0.72140	0.462000	0.41574	GAG		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		67	129	0	0	0	0.139131	0	67	129				
POLD3	10714	broad.mit.edu	37	11	74340350	74340350	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:74340350G>C	ENST00000263681.2	+	9	1117	c.988G>C	c.(988-990)Gat>Cat	p.D330H	POLD3_ENST00000532497.1_Missense_Mutation_p.D224H|POLD3_ENST00000527458.1_Missense_Mutation_p.D291H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	330					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TCCTGAATCTGATAGCAGTGA	0.398																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(988-990)Gat>Cat		polymerase (DNA-directed), delta 3, accessory subunit							124.0	120.0	121.0					11																	74340350		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74340350G>C	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.988G>C	11.37:g.74340350G>C	ENSP00000263681:p.Asp330His					POLD3_ENST00000532497.1_Missense_Mutation_p.D224H|POLD3_ENST00000527458.1_Missense_Mutation_p.D291H	p.D330H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			9	1117	+	Breast(11;3.21e-06)		330					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.988G>C	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780652	0.70222	.	.	ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497	.	.	.	5.73	5.73	0.89815	.	0.088831	0.85682	D	0.000000	T	0.78910	0.4358	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80471	-0.1368	9	0.72032	D	0.01	-18.3724	15.3929	0.74760	0.0:0.0:1.0:0.0	.	330	Q15054	DPOD3_HUMAN	H	330;291;224	.	ENSP00000263681:D330H	D	+	1	0	POLD3	74017998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.389000	0.66255	2.713000	0.92767	0.591000	0.81541	GAT		0.398	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		40	41	0	0	0	0.086207	0	40	41				
AFF1	4299	broad.mit.edu	37	4	88047277	88047277	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:88047277C>T	ENST00000307808.6	+	13	2999	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	AFF1_ENST00000395146.4_Missense_Mutation_p.S867L|AFF1_ENST00000544085.1_Missense_Mutation_p.S498L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	860					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCACAGTCCTCAAAGAAGGAA	0.552																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2578-2580)tCa>tTa		AF4/FMR2 family, member 1							75.0	79.0	78.0					4																	88047277		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047277C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2579C>T	4.37:g.88047277C>T	ENSP00000305689:p.Ser860Leu					AFF1_ENST00000544085.1_Missense_Mutation_p.S498L|AFF1_ENST00000395146.4_Missense_Mutation_p.S867L	p.S860L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	2999	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	860					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2579C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	9.432	1.085713	0.20390	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.65549	-0.16;-0.16;-0.16	5.63	3.59	0.41128	.	1.665850	0.03265	N	0.183774	T	0.57446	0.2054	L	0.50919	1.6	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.007;0.007;0.007	T	0.37572	-0.9700	10	0.35671	T	0.21	-4.1455	5.6473	0.17596	0.1991:0.6235:0.0:0.1774	.	867;860;860	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	867;860;498	ENSP00000378578:S867L;ENSP00000305689:S860L;ENSP00000440843:S498L	ENSP00000305689:S860L	S	+	2	0	AFF1	88266301	0.271000	0.24162	0.659000	0.29680	0.175000	0.22909	1.533000	0.36040	1.386000	0.46466	0.637000	0.83480	TCA		0.552	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		41	59	0	0	0	0.086207	0	41	59				
COX17	10063	broad.mit.edu	37	3	119396148	119396148	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:119396148G>C	ENST00000261070.2	-	1	102	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	COX17_ENST00000497116.1_Missense_Mutation_p.L4V|COX17_ENST00000484810.1_Missense_Mutation_p.L4V	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	4	Ala/Pro-rich.				brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		GAGTCAACCAGACCCGGCATC	0.617																																						ENST00000261070.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)	3						c.(10-12)Ctg>Gtg		COX17 cytochrome c oxidase copper chaperone							15.0	16.0	15.0					3																	119396148		2203	4300	6503	SO:0001583	missense	10063				copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity	g.chr3:119396148G>C	L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"""Mitochondrial respiratory chain complex assembly factors"""	2264	protein-coding gene	gene with protein product		604813	"""COX17 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX17 homolog, cytochrome c oxidase assembly protein (yeast)"", ""COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)"", ""COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 17 (yeast)"""			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.10C>G	3.37:g.119396148G>C	ENSP00000261070:p.Leu4Val					COX17_ENST00000497116.1_Missense_Mutation_p.L4V|COX17_ENST00000484810.1_Missense_Mutation_p.L4V	p.L4V	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN		GBM - Glioblastoma multiforme(114;0.227)	1	102	-			4			Ala/Pro-rich.		B2R5D2|D3DN84|Q3MHD6	Missense_Mutation	SNP	ENST00000261070.2	37	c.10C>G	CCDS2993.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388248	0.25118	.	.	ENSG00000138495	ENST00000261070;ENST00000484810;ENST00000497116	.	.	.	4.98	1.17	0.20885	.	0.264455	0.30639	N	0.009188	T	0.21227	0.0511	.	.	.	0.22112	N	0.999357	B	0.06786	0.001	B	0.06405	0.002	T	0.15206	-1.0445	8	0.19590	T	0.45	-13.4162	5.35	0.16030	0.2478:0.1468:0.6054:0.0	.	4	Q14061	COX17_HUMAN	V	4	.	ENSP00000261070:L4V	L	-	1	2	COX17	120878838	0.579000	0.26725	0.821000	0.32701	0.299000	0.27559	0.552000	0.23376	0.103000	0.17682	-0.519000	0.04390	CTG		0.617	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	NM_005694		6	21	0	0	0	0.038147	0	6	21				
MPP1	4354	broad.mit.edu	37	X	154033630	154033630	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:154033630C>T	ENST00000369534.3	-	1	166	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	7					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCTCGCCCTCGCTCGCCTTG	0.662																																						ENST00000369534.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(19-21)Gag>Aag		membrane protein, palmitoylated 1, 55kDa							34.0	26.0	29.0					X																	154033630		2203	4298	6501	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154033630C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.19G>A	X.37:g.154033630C>T	ENSP00000358547:p.Glu7Lys					MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K	p.E7K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN			1	166	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		7					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.19G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569780	0.28003	.	.	ENSG00000130830	ENST00000369534;ENST00000393531;ENST00000453245;ENST00000428488;ENST00000369531	T;T;T;T	0.41400	2.29;2.15;1.0;1.94	4.63	3.74	0.42951	.	0.257576	0.37530	N	0.002049	T	0.16300	0.0392	N	0.11927	0.2	0.80722	D	1	B;P;B;B	0.38711	0.0;0.643;0.005;0.003	B;B;B;B	0.24974	0.0;0.057;0.002;0.001	T	0.08680	-1.0710	10	0.10902	T	0.67	.	8.464	0.32944	0.0:0.668:0.332:0.0	.	7;7;7;7	B4E325;C9J9J4;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	7	ENSP00000358547:E7K;ENSP00000377165:E7K;ENSP00000410888:E7K;ENSP00000358544:E7K	ENSP00000358544:E7K	E	-	1	0	MPP1	153686824	1.000000	0.71417	0.907000	0.35723	0.164000	0.22412	1.454000	0.35178	1.890000	0.54733	0.529000	0.55759	GAG		0.662	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		5	2	0	0	0	0.014758	0	5	2				
DNAJA1	3301	broad.mit.edu	37	9	33030454	33030454	+	Silent	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:33030454A>G	ENST00000330899.4	+	5	615	c.432A>G	c.(430-432)aaA>aaG	p.K144K	DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	144					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GAGGTAAGAAAGGAGCAGTAG	0.353																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(430-432)aaA>aaG		DnaJ (Hsp40) homolog, subfamily A, member 1							53.0	49.0	50.0					9																	33030454		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33030454A>G	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.432A>G	9.37:g.33030454A>G						DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	p.K144K	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	5	615	+			144					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.432A>G	CCDS6533.1																																																																																				0.353	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			11	8	0	0	0	0.105934	0	11	8				
ZNF512B	57473	broad.mit.edu	37	20	62598782	62598782	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:62598782C>T	ENST00000450537.1	-	3	276	c.216G>A	c.(214-216)aaG>aaA	p.K72K	ZNF512B_ENST00000369888.1_Silent_p.K72K|ZNF512B_ENST00000217130.3_Silent_p.K72K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCCCTTTTTCTTCCCTTCTG	0.632																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(214-216)aaG>aaA		zinc finger protein 512B							130.0	129.0	130.0					20																	62598782		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598782C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.216G>A	20.37:g.62598782C>T						ZNF512B_ENST00000369888.1_Silent_p.K72K|ZNF512B_ENST00000217130.3_Silent_p.K72K	p.K72K			Q96KM6	Z512B_HUMAN			3	276	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		72					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.216G>A	CCDS13548.1																																																																																				0.632	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		58	85	0	0	0	0.139131	0	58	85				
EZH1	2145	broad.mit.edu	37	17	40870631	40870631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:40870631G>A	ENST00000428826.2	-	9	893	c.772C>T	c.(772-774)Cga>Tga	p.R258*	EZH1_ENST00000435174.1_Nonsense_Mutation_p.R119*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R249*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R188*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R218*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.R258*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	258					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTTAGTTCTCGATACCTATTT	0.507																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(772-774)Cga>Tga		enhancer of zeste homolog 1 (Drosophila)							104.0	104.0	104.0					17																	40870631		2203	4300	6503	SO:0001587	stop_gained	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870631G>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.772C>T	17.37:g.40870631G>A	ENSP00000404658:p.Arg258*					EZH1_ENST00000592743.1_Nonsense_Mutation_p.R258*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.R119*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R249*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R188*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R218*	p.R258*			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	893	-		Breast(137;0.00104)	258					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	ENST00000428826.2	37	c.772C>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	39	7.489481	0.98316	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	.	.	.	4.8	3.81	0.43845	.	0.244243	0.37095	N	0.002250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	12.3995	0.55404	0.0:0.0:0.5707:0.4293	.	.	.	.	X	261;258;218;119	.	ENSP00000264646:R261X	R	-	1	2	EZH1	38124157	1.000000	0.71417	0.381000	0.26106	0.975000	0.68041	3.763000	0.55257	1.345000	0.45676	0.655000	0.94253	CGA		0.507	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		16	36	0	0	0	0.160694	0	16	36				
SLC35B3	51000	broad.mit.edu	37	6	8421006	8421006	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:8421006C>T	ENST00000379660.4	-	6	1079	c.630G>A	c.(628-630)ctG>ctA	p.L210L	SLC35B3_ENST00000339306.5_Silent_p.L210L	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	210					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAACCATATCAGGCCAAGGC	0.388																																					Melanoma(83;700 1353 9357 11478 30548)	ENST00000379660.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.(628-630)ctG>ctA		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3							117.0	120.0	119.0					6																	8421006		2203	4300	6503	SO:0001819	synonymous_variant	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8421006C>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.630G>A	6.37:g.8421006C>T						SLC35B3_ENST00000339306.5_Silent_p.L210L	p.L210L	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN			6	1079	-	Ovarian(93;0.0569)		210					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Silent	SNP	ENST00000379660.4	37	c.630G>A	CCDS4508.1																																																																																				0.388	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		37	111	0	0	0	0.124865	0	37	111				
ANK3	288	broad.mit.edu	37	10	61829289	61829289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61829289C>G	ENST00000280772.2	-	37	11541	c.11350G>C	c.(11350-11352)Gat>Cat	p.D3784H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3784					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAGTTATCTTTTTGAAAA	0.343																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11350-11352)Gat>Cat		ankyrin 3, node of Ranvier (ankyrin G)							135.0	140.0	138.0					10																	61829289		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829289C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11350G>C	10.37:g.61829289C>G	ENSP00000280772:p.Asp3784His					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.D3784H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11541	-			3784					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11350G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842537	0.51057	.	.	ENSG00000151150	ENST00000280772	T	0.42513	0.97	5.52	5.52	0.82312	.	0.000000	0.43579	D	0.000548	T	0.41696	0.1170	N	0.14661	0.345	0.80722	D	1	D	0.54397	0.966	P	0.52710	0.707	T	0.33574	-0.9863	10	0.40728	T	0.16	.	19.441	0.94821	0.0:1.0:0.0:0.0	.	3784	Q12955	ANK3_HUMAN	H	3784	ENSP00000280772:D3784H	ENSP00000280772:D3784H	D	-	1	0	ANK3	61499295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.943000	0.63554	2.586000	0.87340	0.655000	0.94253	GAT		0.343	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		64	96	0	0	0	0.139131	0	64	96				
SLX4	84464	broad.mit.edu	37	16	3639417	3639417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr16:3639417G>A	ENST00000294008.3	-	12	4862	c.4222C>T	c.(4222-4224)Cag>Tag	p.Q1408*		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1408	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGTTGGCCTGATGGGAGGCC	0.607								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4222-4224)Cag>Tag	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							62.0	67.0	65.0					16																	3639417		2174	4260	6434	SO:0001587	stop_gained	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639417G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4222C>T	16.37:g.3639417G>A	ENSP00000294008:p.Gln1408*						p.Q1408*	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4862	-			1408			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Nonsense_Mutation	SNP	ENST00000294008.3	37	c.4222C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	46	12.802718	0.99697	.	.	ENSG00000188827	ENST00000294008	.	.	.	5.67	3.66	0.41972	.	0.917843	0.09269	N	0.825502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.6372	0.22889	0.0847:0.0:0.5952:0.3201	.	.	.	.	X	1408	.	ENSP00000294008:Q1408X	Q	-	1	0	SLX4	3579418	0.038000	0.19896	0.001000	0.08648	0.148000	0.21650	2.414000	0.44627	0.817000	0.34445	0.655000	0.94253	CAG		0.607	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		49	62	0	0	0	0.139131	0	49	62				
NRCAM	4897	broad.mit.edu	37	7	107880487	107880487	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:107880487T>C	ENST00000425651.2	-	1	21	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E	NRCAM_ENST00000351718.4_Missense_Mutation_p.K8E|NRCAM_ENST00000413765.2_Missense_Mutation_p.K8E|NRCAM_ENST00000379028.3_Missense_Mutation_p.K8E|NRCAM_ENST00000379022.4_Missense_Mutation_p.K8E|NRCAM_ENST00000379024.4_Missense_Mutation_p.K8E	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	8					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCTTCTTTTTCGGCATTATT	0.418																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(22-24)Aaa>Gaa		neuronal cell adhesion molecule							117.0	117.0	117.0					7																	107880487		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880487T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.22A>G	7.37:g.107880487T>C	ENSP00000401244:p.Lys8Glu					NRCAM_ENST00000379024.4_Missense_Mutation_p.K8E|NRCAM_ENST00000413765.2_Missense_Mutation_p.K8E|NRCAM_ENST00000351718.4_Missense_Mutation_p.K8E|NRCAM_ENST00000379022.4_Missense_Mutation_p.K8E|NRCAM_ENST00000425651.2_Missense_Mutation_p.K8E	p.K8E			Q92823	NRCAM_HUMAN			4	492	-			8					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.22A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440243	0.43326	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.75477	0.35;0.58;0.29;0.38;0.35;0.38;-0.33;-0.91;-0.94;-0.94	5.87	3.37	0.38596	.	0.370547	0.31082	N	0.008285	T	0.53786	0.1818	N	0.19112	0.55	0.25504	N	0.987522	B;B;B;B;B	0.09022	0.001;0.001;0.0;0.0;0.002	B;B;B;B;B	0.10450	0.005;0.003;0.001;0.003;0.003	T	0.32877	-0.9890	10	0.24483	T	0.36	.	5.7134	0.17946	0.0:0.2048:0.1339:0.6613	.	8;8;8;8;8	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	E	8	ENSP00000368314:K8E;ENSP00000407858:K8E;ENSP00000325269:K8E;ENSP00000368310:K8E;ENSP00000401244:K8E;ENSP00000368308:K8E;ENSP00000390421:K8E;ENSP00000390868:K8E;ENSP00000397544:K8E;ENSP00000408203:K8E	ENSP00000325269:K8E	K	-	1	0	NRCAM	107667723	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.806000	0.38892	1.151000	0.42436	0.533000	0.62120	AAA		0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		45	69	0	0	0	0.139131	0	45	69				
GRM5	2915	broad.mit.edu	37	11	88717906	88717906	+	Intron	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:88717906G>T	ENST00000305447.4	-	1	811				GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393294.3_Missense_Mutation_p.P288T|GRM5_ENST00000418177.2_Intron|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5						activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAAGCTATAGGAGAAAGAAAG	0.303																																						ENST00000393294.3																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(862-864)Cct>Act		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						8.0	9.0	9.0					11																	88717906		863	1976	2839	SO:0001627	intron_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88717906G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.661+62473C>A	11.37:g.88717906G>T						GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Intron|GRM5_ENST00000418177.2_Intron	p.P288T			P41594	GRM5_HUMAN			4	1231	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	0					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.862C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201386	0.09652	.	.	ENSG00000168959	ENST00000393294	D	0.93547	-3.24	1.55	-0.686	0.11324	.	.	.	.	.	D	0.83727	0.5317	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.68322	-0.5439	7	.	.	.	.	2.6364	0.04959	0.2205:0.3153:0.4642:0.0	.	288	A8MT20	.	T	288	ENSP00000376972:P288T	.	P	-	1	0	GRM5	88357554	0.011000	0.17503	0.001000	0.08648	0.268000	0.26511	-0.176000	0.09811	-0.184000	0.10567	0.185000	0.17295	CCT		0.303	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		3	2	1	0	6.4e-05	0.115264	6.51361e-05	3	2				
NT5C1B	93034	broad.mit.edu	37	2	18765360	18765360	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:18765360G>A	ENST00000359846.2	-	6	1142	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	NT5C1B_ENST00000304081.4_Silent_p.F295F|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.F355F|NT5C1B-RDH14_ENST00000532967.1_Silent_p.F355F|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	355					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATACCTTGACGAAGCGGAACG	0.572																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(883-885)ttC>ttT		5'-nucleotidase, cytosolic IB							102.0	101.0	101.0					2																	18765360		2203	4300	6503	SO:0001819	synonymous_variant	93034							g.chr2:18765360G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1065C>T	2.37:g.18765360G>A						NT5C1B_ENST00000359846.2_Silent_p.F355F|NT5C1B_ENST00000600945.1_Silent_p.F355F|NT5C1B-RDH14_ENST00000532967.1_Silent_p.F355F	p.F295F	NM_033253.3	NP_150278.2					5	985	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.885C>T	CCDS33150.1																																																																																				0.572	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			29	67	0	0	0	0.153744	0	29	67				
TMEM63A	9725	broad.mit.edu	37	1	226041387	226041387	+	Silent	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:226041387G>C	ENST00000366835.3	-	19	2010	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	580					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAAGGTATAGAGGATGAGAC	0.602																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1738-1740)ctC>ctG		transmembrane protein 63A							54.0	39.0	44.0					1																	226041387		2201	4300	6501	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226041387G>C		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1740C>G	1.37:g.226041387G>C							p.L580L	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			19	2010	-	Breast(184;0.197)		580					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1740C>G	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		5	5	0	0	0	0.014758	0	5	5				
KALRN	8997	broad.mit.edu	37	3	124066089	124066089	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:124066089G>A	ENST00000240874.3	+	10	1898	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	KALRN_ENST00000360013.3_Missense_Mutation_p.D581N|KALRN_ENST00000460856.1_Missense_Mutation_p.D581N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	581					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGAGGCATGATGACTTTGA	0.527																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1741-1743)Gat>Aat		kalirin, RhoGEF kinase							118.0	111.0	114.0					3																	124066089		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124066089G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1741G>A	3.37:g.124066089G>A	ENSP00000240874:p.Asp581Asn					KALRN_ENST00000240874.3_Missense_Mutation_p.D581N|KALRN_ENST00000460856.1_Missense_Mutation_p.D581N	p.D581N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			10	1868	+			581					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1741G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.651095|4.651095	0.88056|0.88056	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.51071|.	1.33;1.33;1.33;0.72|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58793|0.58793	0.2147|0.2147	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;D;P|.	0.55605|.	0.741;0.972;0.696|.	P;P;P|.	0.55055|.	0.665;0.767;0.535|.	T|T	0.51772|0.51772	-0.8663|-0.8663	10|5	0.44086|.	T|.	0.13|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	581;581;581|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	N|I	581;581;581;57|558	ENSP00000418611:D581N;ENSP00000240874:D581N;ENSP00000353109:D581N;ENSP00000402950:D57N|.	ENSP00000240874:D581N|.	D|M	+|+	1|3	0|0	KALRN|KALRN	125548779|125548779	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	9.310000|9.310000	0.96267|0.96267	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.527	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		26	145	0	0	0	0.153744	0	26	145				
AGO4	192670	broad.mit.edu	37	1	36291577	36291577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:36291577G>C	ENST00000373210.3	+	6	921	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	226	PAZ. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GTTCATGTGTGAGGTTTTAGA	0.418																																						ENST00000373210.3																			0											c.(676-678)Gag>Cag		argonaute RISC catalytic component 4							174.0	171.0	172.0					1																	36291577		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36291577G>C	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.676G>C	1.37:g.36291577G>C	ENSP00000362306:p.Glu226Gln						p.E226Q	NM_017629.3	NP_060099.2					6	921	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.676G>C	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164667	0.78339	.	.	ENSG00000134698	ENST00000373210	T	0.14640	2.49	5.8	5.8	0.92144	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	M	0.74389	2.26	0.80722	D	1	P	0.38642	0.641	P	0.51833	0.681	T	0.00555	-1.1673	10	0.28530	T	0.3	-18.5845	20.0637	0.97700	0.0:0.0:1.0:0.0	.	226	Q9HCK5	AGO4_HUMAN	Q	226	ENSP00000362306:E226Q	ENSP00000362306:E226Q	E	+	1	0	EIF2C4	36064164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	GAG		0.418	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		60	91	0	0	0	0.139131	0	60	91				
ATXN7L2	127002	broad.mit.edu	37	1	110028684	110028684	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:110028684G>A	ENST00000369870.3	+	2	148	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	45										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTAGGGGCTGAGCTGGAGGA	0.527																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(133-135)Gag>Aag		ataxin 7-like 2							96.0	93.0	94.0					1																	110028684		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110028684G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.133G>A	1.37:g.110028684G>A	ENSP00000358886:p.Glu45Lys						p.E45K	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	148	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	45						Missense_Mutation	SNP	ENST00000369870.3	37	c.133G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670041	0.47677	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.30182	1.54	4.59	4.59	0.56863	.	0.000000	0.51477	D	0.000100	T	0.24774	0.0601	L	0.46157	1.445	0.80722	D	1	D	0.58268	0.982	P	0.49799	0.622	T	0.01133	-1.1441	10	0.37606	T	0.19	-16.5052	14.4258	0.67215	0.0:0.0:1.0:0.0	.	45	Q5T6C5	AT7L2_HUMAN	K	45	ENSP00000358886:E45K	ENSP00000358886:E45K	E	+	1	0	ATXN7L2	109830207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.637000	0.54324	2.398000	0.81561	0.561000	0.74099	GAG		0.527	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		33	43	0	0	0	0.064281	0	33	43				
CHM	1121	broad.mit.edu	37	X	85211360	85211360	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:85211360C>T	ENST00000357749.2	-	8	993	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CHM_ENST00000537751.1_Missense_Mutation_p.E174K|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	322					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTTAAATATTCATAAAATGTG	0.333																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(964-966)Gaa>Aaa		choroideremia (Rab escort protein 1)							52.0	45.0	47.0					X																	85211360		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85211360C>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.964G>A	X.37:g.85211360C>T	ENSP00000350386:p.Glu322Lys					CHM_ENST00000537751.1_Missense_Mutation_p.E174K|CHM_ENST00000467744.1_Intron	p.E322K	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			8	993	-		all_lung(315;5.41e-06)	322					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.964G>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618891	0.46736	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.61510	0.1;0.1	4.38	4.38	0.52667	.	0.148041	0.64402	D	0.000016	T	0.71307	0.3324	M	0.82323	2.585	0.53688	D	0.999972	D	0.54964	0.969	P	0.55161	0.77	T	0.76969	-0.2762	10	0.66056	D	0.02	-25.2951	13.0018	0.58681	0.0:0.8275:0.1725:0.0	.	322	P24386	RAE1_HUMAN	K	322;174	ENSP00000350386:E322K;ENSP00000441728:E174K	ENSP00000350386:E322K	E	-	1	0	CHM	85098016	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	2.137000	0.42130	1.992000	0.58205	0.513000	0.50165	GAA		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		11	3	0	0	0	0.093190	0	11	3				
LMLN	89782	broad.mit.edu	37	3	197751552	197751552	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:197751552G>A	ENST00000330198.4	+	14	1571	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	LMLN_ENST00000482695.1_Missense_Mutation_p.E502K|LMLN_ENST00000332636.5_Missense_Mutation_p.E465K|LMLN_ENST00000420910.2_Missense_Mutation_p.E554K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	517					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTATGGCGCTGAAAAGTATGG	0.393																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1549-1551)Gaa>Aaa		leishmanolysin-like (metallopeptidase M8 family)							109.0	105.0	107.0					3																	197751552		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197751552G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1549G>A	3.37:g.197751552G>A	ENSP00000328829:p.Glu517Lys					LMLN_ENST00000482695.1_Missense_Mutation_p.E502K|LMLN_ENST00000420910.2_Missense_Mutation_p.E554K|LMLN_ENST00000332636.5_Missense_Mutation_p.E465K	p.E517K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	14	1571	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	517					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1549G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027433	0.93518	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.76494	0.983;0.997;0.958;0.999;0.991	D;D;P;D;D	0.77557	0.943;0.974;0.762;0.99;0.97	T	0.73341	-0.4013	10	0.59425	D	0.04	-20.2411	15.9913	0.80208	0.0:0.0:1.0:0.0	.	517;465;554;546;502	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	K	502;517;554;465	ENSP00000418324:E502K;ENSP00000328829:E517K;ENSP00000410926:E554K;ENSP00000328611:E465K	ENSP00000328829:E517K	E	+	1	0	LMLN	199235949	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.877000	0.92386	2.620000	0.88729	0.650000	0.86243	GAA		0.393	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		21	92	0	0	0	0.055883	0	21	92				
CRELD2	79174	broad.mit.edu	37	22	50319135	50319135	+	Silent	SNP	G	G	A	rs151259822		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:50319135G>A	ENST00000328268.4	+	9	1013	c.939G>A	c.(937-939)ggG>ggA	p.G313G	CRELD2_ENST00000404488.3_Silent_p.G362G|CRELD2_ENST00000403427.3_Silent_p.G285G|CRELD2_ENST00000407217.3_Silent_p.G281G	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	313	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATACTCCAGGGAGCTACGTCT	0.507																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(1084-1086)ggG>ggA		cysteine-rich with EGF-like domains 2							122.0	116.0	118.0					22																	50319135		2203	4299	6502	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50319135G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.939G>A	22.37:g.50319135G>A						CRELD2_ENST00000403427.3_Silent_p.G285G|CRELD2_ENST00000407217.3_Silent_p.G281G|CRELD2_ENST00000328268.4_Silent_p.G313G	p.G362G	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	10	1221	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	313					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.1086G>A	CCDS14082.1																																																																																				0.507	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		18	52	0	0	0	0.160694	0	18	52				
ACTB	60	broad.mit.edu	37	7	5568921	5568921	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:5568921G>C	ENST00000331789.5	-	3	425	c.234C>G	c.(232-234)aaC>aaG	p.N78K	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	78					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCGTCCCAGTTGGTGACGA	0.607																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(232-234)aaC>aaG		actin, beta							72.0	72.0	72.0					7																	5568921		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568921G>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.234C>G	7.37:g.5568921G>C	ENSP00000349960:p.Asn78Lys						p.N78K	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	425	-		Ovarian(82;0.0606)	78					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.234C>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230135	0.58777	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.97870	-4.58;-4.58;-3.7;-3.7;-3.7	5.01	5.01	0.66863	.	0.080920	0.50627	D	0.000110	D	0.99278	0.9748	H	0.98295	4.195	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	D	0.98600	1.0658	10	0.87932	D	0	.	15.8267	0.78711	0.0:0.0:1.0:0.0	.	78	P60709	ACTB_HUMAN	K	78;78;50;78;78;81;78	ENSP00000349960:N78K;ENSP00000407473:N78K;ENSP00000393951:N78K;ENSP00000399487:N81K;ENSP00000401032:N78K	ENSP00000349960:N78K	N	-	3	2	ACTB	5535447	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.747000	0.85070	2.312000	0.78011	0.563000	0.77884	AAC		0.607	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		33	48	0	0	0	0.183431	0	33	48				
KIAA2026	158358	broad.mit.edu	37	9	5968103	5968103	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:5968103G>C	ENST00000399933.3	-	3	2127	c.2128C>G	c.(2128-2130)Ctt>Gtt	p.L710V	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L710V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	710	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGAATGCAAGAGAATGAAGA	0.308																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2128-2130)Ctt>Gtt		KIAA2026							33.0	32.0	33.0					9																	5968103		1825	4083	5908	SO:0001583	missense	158358							g.chr9:5968103G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2128C>G	9.37:g.5968103G>C	ENSP00000382815:p.Leu710Val					KIAA2026_ENST00000381461.2_Missense_Mutation_p.L710V	p.L710V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	2127	-		Acute lymphoblastic leukemia(23;0.158)	710			Lys-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.2128C>G		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434601	0.25813	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	T	0.31263	0.0791	N	0.08118	0	0.26125	N	0.980498	P	0.47910	0.902	P	0.49085	0.6	T	0.28554	-1.0040	8	0.59425	D	0.04	.	15.6406	0.76997	0.0672:0.0:0.9328:0.0	.	710	Q5HYC2	K2026_HUMAN	V	710	.	ENSP00000370870:L710V	L	-	1	0	KIAA2026	5958103	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.400000	0.59709	2.859000	0.98148	0.591000	0.81541	CTT		0.308	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		3	6	0	0	0	0.115264	0	3	6				
FGF19	9965	broad.mit.edu	37	11	69514326	69514326	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:69514326C>T	ENST00000294312.3	-	3	1120	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	119					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			AAAGCACAGTCTTCCTCCGAG	0.567																																						ENST00000294312.3																			0				large_intestine(2)|lung(2)|skin(2)	6						c.(355-357)Gac>Aac		fibroblast growth factor 19							42.0	38.0	40.0					11																	69514326		2200	4294	6494	SO:0001583	missense	9965				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	g.chr11:69514326C>T	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.355G>A	11.37:g.69514326C>T	ENSP00000294312:p.Asp119Asn						p.D119N	NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	1120	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		119						Missense_Mutation	SNP	ENST00000294312.3	37	c.355G>A	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939089	0.92526	.	.	ENSG00000162344	ENST00000294312	D	0.88277	-2.36	4.9	4.9	0.64082	.	0.053163	0.64402	D	0.000001	D	0.92864	0.7730	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93399	0.6758	10	0.59425	D	0.04	-43.4883	18.0594	0.89372	0.0:1.0:0.0:0.0	.	119	O95750	FGF19_HUMAN	N	119	ENSP00000294312:D119N	ENSP00000294312:D119N	D	-	1	0	FGF19	69223507	0.999000	0.42202	0.953000	0.39169	0.942000	0.58702	5.386000	0.66238	2.270000	0.75569	0.555000	0.69702	GAC		0.567	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		10	17	0	0	0	0.069234	0	10	17				
CELSR1	9620	broad.mit.edu	37	22	46776788	46776788	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:46776788G>C	ENST00000262738.3	-	22	7152	c.7153C>G	c.(7153-7155)Ccg>Gcg	p.P2385A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2385					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCGGGAGCGGAGCCCCCTCG	0.627																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7153-7155)Ccg>Gcg		cadherin, EGF LAG seven-pass G-type receptor 1							40.0	42.0	42.0					22																	46776788		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46776788G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7153C>G	22.37:g.46776788G>C	ENSP00000262738:p.Pro2385Ala						p.P2385A	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	22	7152	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2385					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.7153C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	2.764	-0.257166	0.05791	.	.	ENSG00000075275	ENST00000262738	T	0.68624	-0.34	4.28	0.66	0.17868	.	0.166464	0.38217	U	0.001775	T	0.52629	0.1746	L	0.59912	1.85	0.09310	N	0.999998	B;B	0.20780	0.048;0.001	B;B	0.16289	0.015;0.003	T	0.30387	-0.9980	10	0.16896	T	0.51	.	5.6967	0.17859	0.2145:0.2803:0.5052:0.0	.	706;2385	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	A	2385	ENSP00000262738:P2385A	ENSP00000262738:P2385A	P	-	1	0	CELSR1	45155452	0.002000	0.14202	0.001000	0.08648	0.706000	0.40770	1.277000	0.33167	0.272000	0.22027	-0.657000	0.03884	CCG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		13	27	0	0	0	0.119110	0	13	27				
NPY4R	5540	broad.mit.edu	37	10	47087415	47087415	+	Missense_Mutation	SNP	G	G	A	rs147108354		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:47087415G>A	ENST00000395716.1	+	2	717	c.632G>A	c.(631-633)cGc>cAc	p.R211H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R211H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	211					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCTCACCACCGCACCATCTAC	0.582																																						ENST00000374312.1																			0											c.(631-633)cGc>cAc		neuropeptide Y receptor Y4		A	HIS/ARG	0,4406		0,0,2203	212.0	167.0	183.0		632	3.0	0.8	10	dbSNP_134	183	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPYR1	NM_005972.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	211/376	47087415	1,13005	2203	4300	6503	SO:0001583	missense	5540							g.chr10:47087415G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.632G>A	10.37:g.47087415G>A	ENSP00000379066:p.Arg211His					NPY4R_ENST00000395716.1_Missense_Mutation_p.R211H	p.R211H	NM_005972.4	NP_005963.3					3	1051	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.632G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	g	9.998	1.232703	0.22626	0.0	1.16E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37411	1.2;1.2	4.93	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.120258	0.52532	N	0.000062	T	0.44052	0.1275	M	0.85099	2.735	0.44677	D	0.99766	B	0.30146	0.27	B	0.34346	0.18	T	0.51671	-0.8676	10	0.66056	D	0.02	.	10.3263	0.43796	0.1755:0.0:0.8245:0.0	.	211	P50391	NPY4R_HUMAN	H	211	ENSP00000363431:R211H;ENSP00000379066:R211H	ENSP00000363431:R211H	R	+	2	0	PPYR1	46507421	0.972000	0.33761	0.846000	0.33378	0.008000	0.06430	3.255000	0.51484	1.239000	0.43787	-0.165000	0.13383	CGC		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	177	0	0	0	0.021553	0	5	177				
CAMK1	8536	broad.mit.edu	37	3	9801205	9801205	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:9801205C>A	ENST00000256460.3	-	10	1056	c.879G>T	c.(877-879)caG>caT	p.Q293H	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	293	Autoinhibitory domain.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCTTCTTGATCTGCTCACTCA	0.527																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(877-879)caG>caT		calcium/calmodulin-dependent protein kinase I							196.0	180.0	185.0					3																	9801205		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9801205C>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.879G>T	3.37:g.9801205C>A	ENSP00000256460:p.Gln293His					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	p.Q293H	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	10	1056	-	Medulloblastoma(99;0.227)		293			Autoinhibitory domain (By similarity).		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.879G>T	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.067561|3.067561	0.55539|0.55539	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000421120|ENST00000256460	.|T	.|0.68331	.|-0.32	5.95|5.95	5.07|5.07	0.68467|0.68467	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67144|0.67144	0.2862|0.2862	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31599	.|0.33;0.33	.|B;B	.|0.36608	.|0.229;0.229	T|T	0.68557|0.68557	-0.5377|-0.5377	5|10	.|0.54805	.|T	.|0.06	-20.5903|-20.5903	11.3188|11.3188	0.49407|0.49407	0.0:0.8597:0.0:0.1403|0.0:0.8597:0.0:0.1403	.|.	.|293;293	.|Q14012;B0YIY3	.|KCC1A_HUMAN;.	Y|H	140|293	.|ENSP00000256460:Q293H	.|ENSP00000256460:Q293H	D|Q	-|-	1|3	0|2	CAMK1|CAMK1	9776205|9776205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.881000|0.881000	0.28173|0.28173	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.527	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		7	240	1	0	5.18039e-06	0.038147	5.30373e-06	7	240				
PEX5L	51555	broad.mit.edu	37	3	179597776	179597776	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:179597776G>A	ENST00000467460.1	-	5	776	c.446C>T	c.(445-447)aCg>aTg	p.T149M	PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.T114M|PEX5L_ENST00000472994.1_Missense_Mutation_p.T90M|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.T147M|PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000465751.1_Missense_Mutation_p.T125M|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Missense_Mutation_p.T106M	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	149					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTCAGCATCCGTGCTGATGAG	0.517																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(445-447)aCg>aTg		peroxisomal biogenesis factor 5-like							174.0	164.0	167.0					3																	179597776		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179597776G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.446C>T	3.37:g.179597776G>A	ENSP00000419975:p.Thr149Met					PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.T147M|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.T114M|PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000476138.1_Missense_Mutation_p.T106M|PEX5L_ENST00000472994.1_Missense_Mutation_p.T90M|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.T125M	p.T149M	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		5	776	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		149					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.446C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227726	0.22542	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000476138;ENST00000472994;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D	0.87650	-2.27;-2.28;-2.26;-2.25;-2.25;-2.26	5.62	4.73	0.59995	.	0.194295	0.45867	D	0.000337	T	0.69214	0.3086	N	0.08118	0	0.80722	D	1	B;B;P;P;P	0.38992	0.173;0.431;0.481;0.653;0.521	B;B;B;B;B	0.28553	0.029;0.029;0.091;0.091;0.042	T	0.72997	-0.4121	10	0.52906	T	0.07	-4.1899	8.9822	0.35972	0.1631:0.0:0.8369:0.0	.	90;125;147;114;149	E7EUZ0;E9PH97;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;PEX5R_HUMAN	M	149;147;114;147;106;90;125;138;173	ENSP00000419975:T149M;ENSP00000263962:T147M;ENSP00000418440:T114M;ENSP00000420555:T106M;ENSP00000418054:T90M;ENSP00000419348:T125M	ENSP00000263962:T147M	T	-	2	0	PEX5L	181080470	0.195000	0.23338	0.100000	0.21137	0.042000	0.13812	2.925000	0.48884	2.793000	0.96121	0.650000	0.86243	ACG		0.517	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		12	131	0	0	0	0.105934	0	12	131				
DLGAP1	9229	broad.mit.edu	37	18	3502477	3502477	+	Intron	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr18:3502477C>T	ENST00000315677.3	-	12	3320				DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R913K|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R611K|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R913K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATACAAAATCTACATTGTTC	0.348																																						ENST00000581527.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2737-2739)aGa>aAa		discs, large (Drosophila) homolog-associated protein 1							82.0	81.0	81.0					18																	3502477		2203	4300	6503	SO:0001627	intron_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3502477C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2724+13G>A	18.37:g.3502477C>T						DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R913K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R611K|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000584874.1_Intron	p.R913K	NM_001242761.1	NP_001229690.1	O14490	DLGP1_HUMAN			12	3264	-		Colorectal(8;0.0257)	0					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2738G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215493	0.58452	.	.	ENSG00000170579	ENST00000400145;ENST00000515196	T;T	0.11821	2.74;2.76	5.94	5.94	0.96194	.	.	.	.	.	T	0.08492	0.0211	N	0.02539	-0.55	0.21290	N	0.999739	D;P	0.53312	0.959;0.949	P;B	0.48488	0.579;0.444	T	0.35425	-0.9789	9	0.02654	T	1	.	18.5357	0.91009	0.0:1.0:0.0:0.0	.	913;611	B7Z9Y4;O14490-3	.;.	K	611;913	ENSP00000383010:R611K;ENSP00000445973:R913K	ENSP00000383010:R611K	R	-	2	0	DLGAP1	3492477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.812000	0.96745	0.557000	0.71058	AGA		0.348	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			19	27	0	0	0	0.055883	0	19	27				
LIFR	3977	broad.mit.edu	37	5	38504091	38504091	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:38504091G>A	ENST00000263409.4	-	10	1586	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	LIFR_ENST00000453190.2_Missense_Mutation_p.S475L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	475	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTCTTGTACTGAATTAGATTT	0.284			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1423-1425)tCa>tTa		leukemia inhibitory factor receptor alpha							56.0	66.0	63.0					5																	38504091		2203	4284	6487	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38504091G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1424C>T	5.37:g.38504091G>A	ENSP00000263409:p.Ser475Leu					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S475L	p.S475L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			10	1586	-	all_lung(31;0.00021)		475			Fibronectin type-III 3.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1424C>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779125	0.16120	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.65	5.65	0.86999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.255350	0.05040	N	0.476060	T	0.56992	0.2023	L	0.46157	1.445	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43621	-0.9380	10	0.49607	T	0.09	-10.7114	13.2853	0.60239	0.0:0.0:0.8415:0.1585	.	475	P42702	LIFR_HUMAN	L	475	ENSP00000263409:S475L;ENSP00000398368:S475L	ENSP00000263409:S475L	S	-	2	0	LIFR	38539848	0.982000	0.34865	0.067000	0.19924	0.153000	0.21895	1.877000	0.39598	2.649000	0.89929	0.650000	0.86243	TCA		0.284	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		33	53	0	0	0	0.069456	0	33	53				
DCDC1	341019	broad.mit.edu	37	11	31125289	31125289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:31125289C>G	ENST00000597505.1	-	12	1778	c.1779G>C	c.(1777-1779)ttG>ttC	p.L593F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTCAAAGGTCAAACCCAAAG	0.373																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(1777-1779)ttG>ttC		doublecortin domain containing 1							114.0	108.0	110.0					11																	31125289		1898	4120	6018	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31125289C>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1779G>C	11.37:g.31125289C>G	ENSP00000472625:p.Leu593Phe					DCDC1_ENST00000437348.1_5'UTR	p.L593F			P59894	DCDC1_HUMAN			12	1778	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.1779G>C																																																																																					0.373	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		26	58	0	0	0	0.134883	0	26	58				
YPEL1	29799	broad.mit.edu	37	22	22049338	22049338	+	IGR	SNP	A	A	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:22049338A>T	ENST00000339468.3	-	0	4329				PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000412327.1_Missense_Mutation_p.K482M|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000398831.3_Missense_Mutation_p.K482M|PPIL2_ENST00000335025.8_Missense_Mutation_p.K482M|PPIL2_ENST00000492445.2_Missense_Mutation_p.K482M|PPIL2_ENST00000406385.1_Missense_Mutation_p.K482M	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GGCGTGGGCAAGTACATCAAC	0.647																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1444-1446)aAg>aTg		peptidylprolyl isomerase (cyclophilin)-like 2							30.0	36.0	34.0					22																	22049338		2203	4299	6502	SO:0001628	intergenic_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22049338A>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22049338A>T						PPIL2_ENST00000398831.3_Missense_Mutation_p.K482M|PPIL2_ENST00000412327.1_Missense_Mutation_p.K482M|PPIL2_ENST00000492445.2_Missense_Mutation_p.K482M|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000335025.7_Missense_Mutation_p.K482M	p.K482M			Q13356	PPIL2_HUMAN			19	1505	+	Colorectal(54;0.105)		482					Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.1445A>T	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662252	0.88251	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000446951	T;T;T;T;T;T	0.38887	1.34;1.11;1.11;1.11;1.11;1.13	4.6	4.6	0.57074	.	0.094982	0.64402	D	0.000001	T	0.69513	0.3119	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.76995	-0.2752	10	0.87932	D	0	.	13.4409	0.61112	1.0:0.0:0.0:0.0	.	482;482	Q13356-2;Q13356	.;PPIL2_HUMAN	M	482;482;482;482;482;262	ENSP00000390427:K482M;ENSP00000334553:K482M;ENSP00000381812:K482M;ENSP00000445312:K482M;ENSP00000384299:K482M;ENSP00000405214:K262M	ENSP00000334553:K482M	K	+	2	0	PPIL2	20379338	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.751000	0.85126	2.083000	0.62718	0.529000	0.55759	AAG		0.647	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		5	25	0	0	0	0.014758	0	5	25				
NAPEPLD	222236	broad.mit.edu	37	7	102743916	102743916	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:102743916C>T	ENST00000417955.1	-	5	1296	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.G454E|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.G381E			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	381					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTGATTCTCCATGCTTCAA	0.348																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1141-1143)gGa>gAa		N-acyl phosphatidylethanolamine phospholipase D							69.0	64.0	65.0					7																	102743916		2203	4299	6502	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102743916C>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.1142G>A	7.37:g.102743916C>T	ENSP00000407112:p.Gly381Glu					NAPEPLD_ENST00000455523.2_Missense_Mutation_p.G454E|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.G381E|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.G381E	p.G381E			Q6IQ20	NAPEP_HUMAN			5	1296	-			381					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.1142G>A	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802343	0.90538	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	T;T;T;T;D	0.83250	-1.23;-1.23;-1.23;-1.23;-1.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95603	0.8665	10	0.87932	D	0	-4.9485	19.4725	0.94969	0.0:1.0:0.0:0.0	.	454;381	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	E	381;381;381;381;454	ENSP00000340093:G381E;ENSP00000407112:G381E;ENSP00000419188:G381E;ENSP00000392775:G381E;ENSP00000414364:G454E	ENSP00000340093:G381E	G	-	2	0	NAPEPLD	102531152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.927000	0.63440	2.769000	0.95229	0.650000	0.86243	GGA		0.348	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		29	59	0	0	0	0.125774	0	29	59				
FBN1	2200	broad.mit.edu	37	15	48737641	48737641	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:48737641G>C	ENST00000316623.5	-	48	6304	c.5849C>G	c.(5848-5850)aCa>aGa	p.T1950R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1950	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACCCCACTGTATTAATGCA	0.438																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(5848-5850)aCa>aGa		fibrillin 1							151.0	128.0	136.0					15																	48737641		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48737641G>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5849C>G	15.37:g.48737641G>C	ENSP00000325527:p.Thr1950Arg						p.T1950R	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	48	6304	-		all_lung(180;0.00279)	1950			EGF-like 33; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5849C>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674068	0.29693	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93019	-3.15	5.77	4.8	0.61643	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.365309	0.33272	N	0.005082	D	0.94964	0.8371	M	0.76328	2.33	0.09310	N	0.999999	D	0.59767	0.986	P	0.56563	0.801	D	0.89566	0.3810	10	0.41790	T	0.15	.	12.8941	0.58089	0.0875:0.0:0.9125:0.0	.	1950	P35555	FBN1_HUMAN	R	1950;518;840	ENSP00000325527:T1950R	ENSP00000325527:T1950R	T	-	2	0	FBN1	46524933	0.862000	0.29867	0.109000	0.21407	0.953000	0.61014	1.888000	0.39708	1.298000	0.44778	0.655000	0.94253	ACA		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			41	59	0	0	0	0.111260	0	41	59				
KIAA1598	57698	broad.mit.edu	37	10	118646072	118646072	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:118646072G>T	ENST00000355371.4	-	17	2176	c.1679C>A	c.(1678-1680)cCc>cAc	p.P560H	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.P560H|KIAA1598_ENST00000260777.10_Silent_p.S455S|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	560					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AATGCTACTGGGAGGCCTATG	0.373																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1678-1680)cCc>cAc		KIAA1598							128.0	112.0	118.0					10																	118646072		2203	4300	6503	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118646072G>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1679C>A	10.37:g.118646072G>T	ENSP00000347532:p.Pro560His					KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392903.2_Missense_Mutation_p.P560H|KIAA1598_ENST00000260777.10_Silent_p.S455S	p.P560H	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	17	2176	-			560					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.1679C>A	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548587	0.45383	.	.	ENSG00000187164	ENST00000392903;ENST00000355371	.	.	.	5.77	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	.	.	.	0.80722	D	1	P;D	0.59357	0.911;0.985	P;P	0.55161	0.621;0.77	T	0.68819	-0.5308	8	0.87932	D	0	-1.7791	10.2268	0.43231	0.0715:0.1352:0.7932:0.0	.	560;530	A0MZ66;A0MZ66-6	SHOT1_HUMAN;.	H	560	.	ENSP00000347532:P560H	P	-	2	0	KIAA1598	118636062	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.328000	0.52052	0.776000	0.33473	0.655000	0.94253	CCC		0.373	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		26	48	1	0	4.7796e-09	0.099896	5.10616e-09	26	48				
VSIG10	54621	broad.mit.edu	37	12	118506244	118506244	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:118506244C>G	ENST00000359236.5	-	8	1781	c.1505G>C	c.(1504-1506)aGa>aCa	p.R502T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	502						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGCGGTCACTCTGTGAATGTG	0.468																																						ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1504-1506)aGa>aCa		V-set and immunoglobulin domain containing 10							219.0	222.0	221.0					12																	118506244		2044	4191	6235	SO:0001583	missense	54621					integral to membrane		g.chr12:118506244C>G		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1505G>C	12.37:g.118506244C>G	ENSP00000352172:p.Arg502Thr						p.R502T	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			8	1781	-			502					Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.1505G>C	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930083	0.52759	.	.	ENSG00000176834	ENST00000359236	T	0.58210	0.35	5.03	4.14	0.48551	.	0.000000	0.43579	D	0.000546	T	0.65481	0.2695	M	0.65975	2.015	0.27028	N	0.964319	D	0.76494	0.999	D	0.78314	0.991	T	0.56926	-0.7898	10	0.27082	T	0.32	-12.7125	9.4944	0.38980	0.0:0.9017:0.0:0.0983	.	502	Q8N0Z9	VSI10_HUMAN	T	502	ENSP00000352172:R502T	ENSP00000352172:R502T	R	-	2	0	VSIG10	116990627	0.995000	0.38212	0.997000	0.53966	0.490000	0.33462	1.037000	0.30241	1.248000	0.43934	0.563000	0.77884	AGA		0.468	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		37	77	0	0	0	0.074837	0	37	77				
WDR82	80335	broad.mit.edu	37	3	52292653	52292653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:52292653C>A	ENST00000296490.3	-	8	1092	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	271					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACTTTTATACCGCTCTCTCCA	0.448																																						ENST00000296490.3																			0											c.(811-813)Ggt>Tgt		WD repeat domain 82							152.0	141.0	144.0					3																	52292653		1941	4140	6081	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292653C>A	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.811G>T	3.37:g.52292653C>A	ENSP00000296490:p.Gly271Cys						p.G271C	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1092	-			271					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.811G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	32	5.192543	0.94960	.	.	ENSG00000164091	ENST00000296490	T	0.24908	1.83	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70185	-0.4941	10	0.87932	D	0	-16.6374	20.1957	0.98242	0.0:1.0:0.0:0.0	.	271	Q6UXN9	WDR82_HUMAN	C	271	ENSP00000296490:G271C	ENSP00000296490:G271C	G	-	1	0	WDR82	52267693	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GGT		0.448	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		8	48	1	0	0.00307968	0.038147	0.00311591	8	48				
PAX2	5076	broad.mit.edu	37	10	102568873	102568873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:102568873G>A	ENST00000428433.1	+	8	1418	c.868G>A	c.(868-870)Gag>Aag	p.E290K	PAX2_ENST00000370296.2_Missense_Mutation_p.E290K|PAX2_ENST00000361791.3_Missense_Mutation_p.E267K|PAX2_ENST00000355243.3_Missense_Mutation_p.E267K|PAX2_ENST00000556085.1_Missense_Mutation_p.E266K	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	290					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGGAACGAGTACTCCCT	0.587																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(868-870)Gag>Aag		paired box 2							107.0	109.0	108.0					10																	102568873		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102568873G>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.868G>A	10.37:g.102568873G>A	ENSP00000396259:p.Glu290Lys					PAX2_ENST00000556085.1_Missense_Mutation_p.E266K|PAX2_ENST00000355243.3_Missense_Mutation_p.E267K|PAX2_ENST00000361791.3_Missense_Mutation_p.E267K|PAX2_ENST00000428433.1_Missense_Mutation_p.E290K	p.E290K			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	8	1418	+		Colorectal(252;0.234)	290					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.868G>A	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104203	0.56291	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000554172	D;D;D;D;D;D	0.97850	-4.08;-4.21;-4.23;-4.22;-4.22;-4.57	5.39	5.39	0.77823	.	0.510420	0.21710	N	0.070284	D	0.98308	0.9439	M	0.76002	2.32	0.80722	D	1	D;P;D;P;D;D;B	0.76494	0.989;0.681;0.983;0.829;0.999;0.994;0.101	P;B;P;B;P;P;B	0.62649	0.457;0.23;0.457;0.234;0.905;0.457;0.022	D	0.98068	1.0397	10	0.26408	T	0.33	.	18.1334	0.89609	0.0:0.0:1.0:0.0	.	266;290;267;263;290;267;263	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	K	182;290;290;267;267;266;263	ENSP00000359319:E290K;ENSP00000396259:E290K;ENSP00000355069:E267K;ENSP00000347385:E267K;ENSP00000452527:E266K;ENSP00000452489:E263K	ENSP00000347385:E267K	E	+	1	0	PAX2	102558863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.517000	0.84864	0.561000	0.74099	GAG		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				40	111	0	0	0	0.111260	0	40	111				
PGK1	5230	broad.mit.edu	37	X	77380864	77380864	+	Silent	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:77380864G>T	ENST00000373316.4	+	10	1322	c.1155G>T	c.(1153-1155)acG>acT	p.T385T	PGK1_ENST00000537456.1_Silent_p.T357T|PGK1_ENST00000442431.1_Silent_p.T249T|PGK1_ENST00000476531.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	385					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	AATGGAACACGGAGGATAAAG	0.488																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1153-1155)acG>acT		phosphoglycerate kinase 1							159.0	137.0	144.0					X																	77380864		2203	4296	6499	SO:0001819	synonymous_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380864G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1155G>T	X.37:g.77380864G>T						PGK1_ENST00000537456.1_Silent_p.T357T|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Silent_p.T249T	p.T385T	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			10	1322	+			385					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	ENST00000373316.4	37	c.1155G>T	CCDS14438.1																																																																																				0.488	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			44	20	1	0	4.44712e-29	0.139131	4.87201e-29	44	20				
WBSCR17	64409	broad.mit.edu	37	7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:70597882G>A	ENST00000333538.5	+	1	728	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(94-96)Gcg>Acg		Williams-Beuren syndrome chromosome region 17							47.0	43.0	44.0					7																	70597882		2203	4298	6501	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597882G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.94G>A	7.37:g.70597882G>A	ENSP00000329654:p.Ala32Thr						p.A32T	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			1	728	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	32					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.94G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620191	0.14193	.	.	ENSG00000185274	ENST00000333538	T	0.54675	0.56	4.85	1.87	0.25490	.	0.689293	0.12343	N	0.477303	T	0.20170	0.0485	N	0.02539	-0.55	0.29122	N	0.880214	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	10	0.12103	T	0.63	.	3.1355	0.06437	0.2502:0.0:0.3929:0.3569	.	32	Q6IS24	GLTL3_HUMAN	T	32	ENSP00000329654:A32T	ENSP00000329654:A32T	A	+	1	0	WBSCR17	70235818	0.985000	0.35326	0.999000	0.59377	0.976000	0.68499	0.334000	0.19787	0.622000	0.30249	-0.244000	0.11960	GCG		0.637	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		9	16	0	0	0	0.069234	0	9	16				
GSTA2	2939	broad.mit.edu	37	6	52615381	52615381	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:52615381C>A	ENST00000493422.1	-	7	818	c.663G>T	c.(661-663)agG>agT	p.R221S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	221					epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.R221S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TTTATTAAAACCTGAAAATCT	0.413																																						ENST00000493422.1																			1	Substitution - Missense(1)	p.R221S(1)	urinary_tract(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(661-663)agG>agT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						109.0	109.0	109.0					6																	52615381		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52615381C>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.663G>T	6.37:g.52615381C>A	ENSP00000420168:p.Arg221Ser						p.R221S	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			7	818	-	Lung NSC(77;0.118)		221					Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.663G>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	6.972	0.549257	0.13374	.	.	ENSG00000244067	ENST00000493422	T	0.01572	4.76	2.32	-2.91	0.05631	Glutathione S-transferase, C-terminal-like (1);	1.985470	0.02320	N	0.072896	T	0.00496	0.0016	N	0.25144	0.715	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.48681	-0.9014	10	0.66056	D	0.02	.	3.5923	0.07993	0.0:0.3956:0.1976:0.4068	.	221	P09210	GSTA2_HUMAN	S	221	ENSP00000420168:R221S	ENSP00000420168:R221S	R	-	3	2	GSTA2	52723340	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.552000	0.06020	-1.019000	0.03358	-0.706000	0.03657	AGG		0.413	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		8	101	1	0	1.11149e-13	0.069234	1.20237e-13	8	101				
CORO6	84940	broad.mit.edu	37	17	27943190	27943190	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:27943190C>G	ENST00000445145.2	-	9	1067	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	CORO6_ENST00000577909.1_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Missense_Mutation_p.D356H|CORO6_ENST00000580212.1_Missense_Mutation_p.D316H|CORO6_ENST00000456796.3_Missense_Mutation_p.D122H|CORO6_ENST00000584969.1_Missense_Mutation_p.D356H|CORO6_ENST00000388767.3_Missense_Mutation_p.D356H			Q6QEF8	CORO6_HUMAN	coronin 6	356					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGAAGAGGTCTGACTGCGGG	0.677																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(1066-1068)Gac>Cac		coronin 6							30.0	34.0	33.0					17																	27943190		2201	4300	6501	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943190C>G	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1066G>C	17.37:g.27943190C>G	ENSP00000393624:p.Asp356His					RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Missense_Mutation_p.D356H|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Missense_Mutation_p.D356H|CORO6_ENST00000580212.1_Missense_Mutation_p.D316H|CORO6_ENST00000456796.3_Missense_Mutation_p.D122H|CORO6_ENST00000388767.3_Missense_Mutation_p.D356H	p.D356H			Q6QEF8	CORO6_HUMAN			10	1279	-			356					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.1066G>C		.	.	.	.	.	.	.	.	.	.	C	17.23	3.336168	0.60963	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	T;T;T;T	0.58652	0.32;1.51;1.51;1.51	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.957	D	0.83898	0.0288	10	0.87932	D	0	-1.4678	18.4911	0.90848	0.0:1.0:0.0:0.0	.	122;356	Q6QEF8-4;Q6QEF8-5	.;.	H	427;356;356;122	ENSP00000344562:D427H;ENSP00000373419:D356H;ENSP00000393624:D356H;ENSP00000403019:D122H	ENSP00000344562:D427H	D	-	1	0	CORO6	24967316	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.760000	0.85248	2.448000	0.82819	0.561000	0.74099	GAC		0.677	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		7	14	0	0	0	0.029380	0	7	14				
PRKCQ	5588	broad.mit.edu	37	10	6506278	6506278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:6506278G>A	ENST00000263125.5	-	13	1541	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.A356V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A481V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTCTTACGTCGCTCTGGAAAG	0.448																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1441-1443)gCg>gTg		protein kinase C, theta							266.0	275.0	272.0					10																	6506278		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506278G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1442C>T	10.37:g.6506278G>A	ENSP00000263125:p.Ala481Val					PRKCQ_ENST00000539722.1_Missense_Mutation_p.A356V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A481V	p.A481V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			13	1541	-			481			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1442C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.31|17.31	3.356806|3.356806	0.61293|0.61293	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.11|5.11	4.2|4.2	0.49525|0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.106801|.	0.64402|.	D|.	0.000006|.	T|.	0.52092|.	0.1713|.	N|N	0.25380|0.25380	0.74|0.74	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.995|.	D;D;P;P|.	0.71414|.	0.973;0.96;0.891;0.577|.	T|.	0.45920|.	-0.9228|.	10|.	0.87932|.	D|.	0|.	.|.	14.882|14.882	0.70540|0.70540	0.0:0.0:0.8552:0.1448|0.0:0.0:0.8552:0.1448	.|.	356;253;481;481|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|X	481;481;356|254	ENSP00000263125:A481V;ENSP00000380361:A481V;ENSP00000441752:A356V|.	ENSP00000263125:A481V|.	A|R	-|-	2|1	0|2	PRKCQ|PRKCQ	6546284|6546284	1.000000|1.000000	0.71417|0.71417	0.813000|0.813000	0.32504|0.32504	0.235000|0.235000	0.25334|0.25334	9.479000|9.479000	0.97929|0.97929	1.123000|1.123000	0.41961|0.41961	-0.311000|-0.311000	0.09066|0.09066	GCG|CGA		0.448	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		88	275	0	0	0	0.139131	0	88	275				
SIMC1	375484	broad.mit.edu	37	5	175740719	175740719	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:175740719T>C	ENST00000443967.1	+	7	2110	c.1703T>C	c.(1702-1704)cTt>cCt	p.L568P	SIMC1_ENST00000341199.6_Missense_Mutation_p.L153P|SIMC1_ENST00000430704.2_Missense_Mutation_p.L153P|SIMC1_ENST00000332772.4_Missense_Mutation_p.L29P			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	568							SUMO polymer binding (GO:0032184)										GGGCGAGTCCTTTTCCTGCGT	0.488																																						ENST00000443967.1																			0											c.(1702-1704)cTt>cCt		SUMO-interacting motifs containing 1							194.0	202.0	199.0					5																	175740719		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175740719T>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1703T>C	5.37:g.175740719T>C	ENSP00000406571:p.Leu568Pro					SIMC1_ENST00000332772.4_Missense_Mutation_p.L29P|SIMC1_ENST00000341199.6_Missense_Mutation_p.L153P|SIMC1_ENST00000430704.2_Missense_Mutation_p.L153P	p.L568P							7	2110	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1703T>C		.	.	.	.	.	.	.	.	.	.	T	16.98	3.272250	0.59649	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.49	4.26	0.50523	.	0.306542	0.27198	N	0.020470	T	0.65333	0.2681	L	0.50333	1.59	0.34444	D	0.699934	D;P;D	0.63880	0.988;0.873;0.993	D;P;P	0.63192	0.912;0.628;0.884	T	0.75320	-0.3359	10	0.87932	D	0	-11.7209	9.2529	0.37566	0.161:0.0:0.0:0.839	.	29;153;568	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	P	153;153;568;29	ENSP00000342075:L153P;ENSP00000409287:L153P;ENSP00000406571:L568P;ENSP00000331311:L29P	ENSP00000331311:L29P	L	+	2	0	C5orf25	175673325	0.726000	0.28059	0.960000	0.40013	0.734000	0.41952	2.849000	0.48286	2.096000	0.63516	0.533000	0.62120	CTT		0.488	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		4	313	0	0	0	0.150653	0	4	313				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	63	0	0	0	0.014758	0	5	63				
ANK3	288	broad.mit.edu	37	10	61831482	61831482	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831482C>G	ENST00000280772.2	-	37	9348	c.9157G>C	c.(9157-9159)Gag>Cag	p.E3053Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3053					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGCTAAACTCTAAAGAATCA	0.473																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9157-9159)Gag>Cag		ankyrin 3, node of Ranvier (ankyrin G)							93.0	101.0	98.0					10																	61831482		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831482C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9157G>C	10.37:g.61831482C>G	ENSP00000280772:p.Glu3053Gln					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.E3053Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9348	-			3053					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9157G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987737	0.74589	.	.	ENSG00000151150	ENST00000280772	T	0.70986	-0.53	5.23	5.23	0.72850	.	0.342180	0.20775	N	0.085918	T	0.72053	0.3413	L	0.54323	1.7	0.80722	D	1	B	0.23316	0.083	B	0.32090	0.14	T	0.70809	-0.4771	10	0.66056	D	0.02	.	18.7938	0.91985	0.0:1.0:0.0:0.0	.	3053	Q12955	ANK3_HUMAN	Q	3053	ENSP00000280772:E3053Q	ENSP00000280772:E3053Q	E	-	1	0	ANK3	61501488	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.545000	0.82128	2.451000	0.82905	0.313000	0.20887	GAG		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		56	82	0	0	0	0.139131	0	56	82				
ZNF331	55422	broad.mit.edu	37	19	54080933	54080933	+	Silent	SNP	C	C	T	rs373832810		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr19:54080933C>T	ENST00000253144.9	+	7	2452	c.1119C>T	c.(1117-1119)caC>caT	p.H373H	ZNF331_ENST00000511154.1_Silent_p.H373H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000411977.2_Silent_p.H373H|ZNF331_ENST00000513999.1_Silent_p.H373H|ZNF331_ENST00000511593.2_Silent_p.H373H|ZNF331_ENST00000512387.1_Silent_p.H373H|ZNF331_ENST00000449416.1_Silent_p.H373H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCACTCAGCACGAGAGAATCC	0.498			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1117-1119)caC>caT		zinc finger protein 331		C	,,	0,4406		0,0,2203	95.0	85.0	88.0		1119,1119,1119	-5.5	0.8	19		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF331	NM_001079906.1,NM_001079907.1,NM_018555.5	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	373/464,373/464,373/464	54080933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080933C>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1119C>T	19.37:g.54080933C>T						ZNF331_ENST00000513999.1_Silent_p.H373H|ZNF331_ENST00000449416.1_Silent_p.H373H|ZNF331_ENST00000511593.2_Silent_p.H373H|ZNF331_ENST00000411977.2_Silent_p.H373H|ZNF331_ENST00000511154.1_Silent_p.H373H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000512387.1_Silent_p.H373H	p.H373H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2452	+			373					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.1119C>T	CCDS33102.1																																																																																				0.498	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		7	39	0	0	0	0.038147	0	7	39				
PCDHA11	56138	broad.mit.edu	37	5	140250408	140250408	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:140250408G>A	ENST00000398640.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCGGGAGGCGCAGTTAA	0.667																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1720-1722)Ggc>Agc									82.0	92.0	89.0					5																	140250408		2203	4298	6501	SO:0001583	missense	56138							g.chr5:140250408G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1720G>A	5.37:g.140250408G>A	ENSP00000381636:p.Gly574Ser					PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.G574S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1720	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1720G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.331256	0.01298	.	.	ENSG00000249158	ENST00000398640	T	0.46451	0.87	4.63	1.34	0.21922	Cadherin-like (1);	.	.	.	.	T	0.10981	0.0268	N	0.00459	-1.475	0.09310	N	1	B;B	0.15930	0.015;0.007	B;B	0.13407	0.009;0.004	T	0.29792	-1.0000	9	0.02654	T	1	.	10.5111	0.44862	0.3239:0.0:0.6761:0.0	.	574;574	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	574	ENSP00000381636:G574S	ENSP00000381636:G574S	G	+	1	0	PCDHA11	140230592	0.777000	0.28628	0.000000	0.03702	0.012000	0.07955	2.383000	0.44354	0.410000	0.25675	0.556000	0.70494	GGC		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		64	73	0	0	0	0.139131	0	64	73				
TAS2R31	259290	broad.mit.edu	37	12	11183373	11183373	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:11183373A>T	ENST00000390675.2	-	1	633	c.562T>A	c.(562-564)Ttc>Atc	p.F188I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	188					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GTCAGAGTGAAGGGCACTAAG	0.428																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(562-564)Ttc>Atc		taste receptor, type 2, member 31							118.0	122.0	121.0					12																	11183373		2201	4300	6501	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183373A>T	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.562T>A	12.37:g.11183373A>T	ENSP00000375093:p.Phe188Ile					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.F188I	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	633	-			188					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.562T>A	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650144	0.29336	.	.	ENSG00000256436	ENST00000390675	T	0.01034	5.42	2.62	1.39	0.22231	.	.	.	.	.	T	0.03178	0.0093	M	0.88310	2.945	0.09310	N	1	P	0.36712	0.566	P	0.46585	0.521	T	0.19778	-1.0295	9	0.72032	D	0.01	.	4.8502	0.13533	0.726:0.0:0.0:0.274	.	188	P59538	T2R31_HUMAN	I	188	ENSP00000375093:F188I	ENSP00000375093:F188I	F	-	1	0	TAS2R31	11074640	0.001000	0.12720	0.006000	0.13384	0.027000	0.11550	0.482000	0.22276	0.238000	0.21222	0.163000	0.16589	TTC		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		41	92	0	0	0	0.104719	0	41	92				
FAM71F1	84691	broad.mit.edu	37	7	128359081	128359081	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:128359081C>G	ENST00000315184.5	+	3	684	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	211										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCCTAGGATTCTTGTCACGCA	0.542																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(631-633)Ctt>Gtt		family with sequence similarity 71, member F1							127.0	116.0	119.0					7																	128359081		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128359081C>G	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.631C>G	7.37:g.128359081C>G	ENSP00000326652:p.Leu211Val					FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V|FAM71F1_ENST00000469348.1_3'UTR	p.L211V	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			3	684	+			211					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.631C>G	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981695	0.53827	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24350	1.86;3.23;1.92	4.69	3.81	0.43845	.	0.563478	0.16249	N	0.222787	T	0.42607	0.1210	M	0.63428	1.95	0.26800	N	0.969217	D;B;D;D;D	0.71674	0.983;0.216;0.998;0.997;0.997	P;B;D;D;D	0.72625	0.708;0.208;0.915;0.978;0.978	T	0.16276	-1.0408	10	0.29301	T	0.29	-1.224	8.6669	0.34125	0.0:0.8956:0.0:0.1044	.	103;211;211;211;112	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	112;211;67	ENSP00000418192:L112V;ENSP00000326652:L211V;ENSP00000417930:L67V	ENSP00000326652:L211V	L	+	1	0	FAM71F1	128146317	0.959000	0.32827	0.962000	0.40283	0.869000	0.49853	3.726000	0.54977	1.335000	0.45486	0.591000	0.81541	CTT		0.542	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		5	105	0	0	0	0.014758	0	5	105				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625693	74625693	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:74625693C>T	ENST00000156626.7	-	2	431	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	78					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGCACTGGCTCTGCATAGATG	0.567																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(232-234)Gag>Aag		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							165.0	147.0	153.0					17																	74625693		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625693C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.232G>A	17.37:g.74625693C>T	ENSP00000156626:p.Glu78Lys					ST6GALNAC1_ENST00000590878.1_5'UTR	p.E78K	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	431	-			78					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.232G>A	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223227	0.39300	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.35236	1.45;1.32	3.87	0.469	0.16741	.	.	.	.	.	T	0.20536	0.0494	L	0.34521	1.04	0.09310	N	1	P	0.43750	0.816	B	0.38264	0.269	T	0.10590	-1.0623	9	0.27785	T	0.31	-6.3429	2.8642	0.05596	0.1833:0.5312:0.1782:0.1073	.	78	Q9NSC7	SIA7A_HUMAN	K	78	ENSP00000156626:E78K;ENSP00000351991:E78K	ENSP00000156626:E78K	E	-	1	0	ST6GALNAC1	72137288	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.624000	0.05540	0.024000	0.15214	0.313000	0.20887	GAG		0.567	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		53	88	0	0	0	0.139131	0	53	88				
ANK3	288	broad.mit.edu	37	10	61828403	61828403	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61828403C>G	ENST00000280772.2	-	37	12427	c.12236G>C	c.(12235-12237)aGa>aCa	p.R4079T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4079					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCAGTCCTTCTACTGCTCCT	0.473																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12235-12237)aGa>aCa		ankyrin 3, node of Ranvier (ankyrin G)							127.0	126.0	126.0					10																	61828403		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828403C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12236G>C	10.37:g.61828403C>G	ENSP00000280772:p.Arg4079Thr					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.R4079T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12427	-			4079					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.12236G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256072	0.22965	.	.	ENSG00000151150	ENST00000280772	T	0.65364	-0.15	5.72	4.82	0.62117	DEATH-like (1);	0.298226	0.23957	N	0.042882	T	0.43523	0.1251	L	0.27053	0.805	0.80722	D	1	P	0.39665	0.682	B	0.32980	0.156	T	0.44513	-0.9323	10	0.48119	T	0.1	.	8.7656	0.34700	0.0:0.8332:0.0:0.1668	.	4079	Q12955	ANK3_HUMAN	T	4079	ENSP00000280772:R4079T	ENSP00000280772:R4079T	R	-	2	0	ANK3	61498409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.614000	0.54160	2.711000	0.92665	0.655000	0.94253	AGA		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		56	100	0	0	0	0.139131	0	56	100				
CTSS	1520	broad.mit.edu	37	1	150724458	150724458	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724458G>A	ENST00000368985.3	-	5	686	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CTSS_ENST00000448301.2_Silent_p.F92F|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	142					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAGCACTGAAAGCCCAGC	0.478																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(424-426)ttC>ttT		cathepsin S							70.0	69.0	70.0					1																	150724458		2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724458G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.426C>T	1.37:g.150724458G>A						CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.F92F	p.F142F	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	686	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		142					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.426C>T	CCDS968.1																																																																																				0.478	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		15	32	0	0	0	0.175082	0	15	32				
PCDH7	5099	broad.mit.edu	37	4	30723353	30723353	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:30723353C>T	ENST00000361762.2	+	1	1317	c.309C>T	c.(307-309)ttC>ttT	p.F103F	PCDH7_ENST00000543491.1_Silent_p.F103F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGATGATCTTCGACGAGAACG	0.602																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(307-309)ttC>ttT		protocadherin 7							83.0	64.0	71.0					4																	30723353		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723353C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.309C>T	4.37:g.30723353C>T						PCDH7_ENST00000543491.1_Silent_p.F103F	p.F103F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1317	+			103			Cadherin 1.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.309C>T	CCDS33971.1																																																																																				0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		11	10	0	0	0	0.093190	0	11	10				
PCBP2	5094	broad.mit.edu	37	12	53861083	53861083	+	Intron	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:53861083G>C	ENST00000439930.3	+	10	821				PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000541275.1_Missense_Mutation_p.D265H|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000546463.1_Intron|PCBP2_ENST00000552819.1_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTGGTATGGATACCTCAGT	0.468																																						ENST00000541275.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(793-795)Gat>Cat		poly(rC) binding protein 2							147.0	126.0	133.0					12																	53861083		2203	4300	6503	SO:0001627	intron_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861083G>C	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.799+6G>C	12.37:g.53861083G>C						PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Intron	p.D265H			Q15366	PCBP2_HUMAN			13	1342	+			269					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.793G>C	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039779	0.35989	.	.	ENSG00000197111	ENST00000541275	T	0.29397	1.57	5.64	4.75	0.60458	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.25877	N	0.983632	P	0.44478	0.836	P	0.48840	0.592	T	0.15954	-1.0419	7	.	.	.	.	6.3083	0.21151	0.15:0.161:0.689:0.0	.	265	B4DLC0	.	H	265	ENSP00000446130:D265H	.	D	+	1	0	PCBP2	52147350	.	.	1.000000	0.80357	0.925000	0.55904	.	.	1.400000	0.46741	-0.122000	0.15005	GAT		0.468	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		39	60	0	0	0	0.139131	0	39	60				
GFRA3	2676	broad.mit.edu	37	5	137599972	137599972	+	Silent	SNP	G	G	A	rs530859914	byFrequency	TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:137599972G>A	ENST00000274721.3	-	2	603	c.357C>T	c.(355-357)acC>acT	p.T119T	GFRA3_ENST00000378362.3_Silent_p.T119T	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	119					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACGGTGAACGGTCCAATAGA	0.552																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(355-357)acC>acT		GDNF family receptor alpha 3							86.0	77.0	80.0					5																	137599972		2203	4300	6503	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137599972G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.357C>T	5.37:g.137599972G>A						GFRA3_ENST00000378362.3_Silent_p.T119T	p.T119T	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	603	-			119					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.357C>T	CCDS4201.1																																																																																				0.552	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		25	49	0	0	0	0.116897	0	25	49				
PLCB3	5331	broad.mit.edu	37	11	64022744	64022744	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:64022744C>T	ENST00000540288.1	+	5	529	c.426C>T	c.(424-426)atC>atT	p.I142I	PLCB3_ENST00000279230.6_Silent_p.I142I|PLCB3_ENST00000325234.5_Silent_p.I75I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	142					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTATGAACATCCTGGCTCAGA	0.647																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(424-426)atC>atT		phospholipase C, beta 3 (phosphatidylinositol-specific)							49.0	47.0	48.0					11																	64022744		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022744C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.426C>T	11.37:g.64022744C>T						PLCB3_ENST00000279230.6_Silent_p.I142I|PLCB3_ENST00000325234.5_Silent_p.I75I	p.I142I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			5	529	+			142					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.426C>T	CCDS8064.1																																																																																				0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			11	22	0	0	0	0.069234	0	11	22				
ANK3	288	broad.mit.edu	37	10	61831782	61831782	+	Missense_Mutation	SNP	C	C	T	rs370916329		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831782C>T	ENST00000280772.2	-	37	9048	c.8857G>A	c.(8857-8859)Gag>Aag	p.E2953K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2953					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGAGCTCTCGCTCCTCCTG	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8857-8859)Gag>Aag		ankyrin 3, node of Ranvier (ankyrin G)		C	,,,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	99.0	92.0	95.0		,,,8857	5.4	1.0	10		95	0,8600		0,0,4300	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,benign	,,,2953/4378	61831782	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831782C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8857G>A	10.37:g.61831782C>T	ENSP00000280772:p.Glu2953Lys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.E2953K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9048	-			2953					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8857G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	8.525	0.869714	0.17322	2.27E-4	0.0	ENSG00000151150	ENST00000280772	T	0.67698	-0.28	5.43	5.43	0.79202	.	0.164448	0.28349	N	0.015676	T	0.46964	0.1420	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.45352	-0.9267	10	0.56958	D	0.05	.	12.5757	0.56362	0.0:0.9236:0.0:0.0764	.	2953	Q12955	ANK3_HUMAN	K	2953	ENSP00000280772:E2953K	ENSP00000280772:E2953K	E	-	1	0	ANK3	61501788	1.000000	0.71417	0.975000	0.42487	0.332000	0.28634	5.259000	0.65485	2.556000	0.86216	0.455000	0.32223	GAG		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		24	54	0	0	0	0.108266	0	24	54				
ICA1	3382	broad.mit.edu	37	7	8196806	8196806	+	Silent	SNP	A	A	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:8196806A>T	ENST00000402384.3	-	8	1010	c.744T>A	c.(742-744)acT>acA	p.T248T	ICA1_ENST00000396675.3_Silent_p.T248T|AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000422063.2_Silent_p.T248T|ICA1_ENST00000265577.7_Silent_p.T247T|ICA1_ENST00000407906.1_Silent_p.T248T|ICA1_ENST00000401396.1_Silent_p.T236T|ICA1_ENST00000406470.2_Silent_p.T248T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	248	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGCTGCCATAGTGTGAGAAG	0.398																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(742-744)acT>acA		islet cell autoantigen 1, 69kDa							90.0	91.0	91.0					7																	8196806		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8196806A>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.744T>A	7.37:g.8196806A>T						ICA1_ENST00000396675.3_Silent_p.T248T|ICA1_ENST00000401396.1_Silent_p.T236T|ICA1_ENST00000406470.2_Silent_p.T248T|ICA1_ENST00000407906.1_Silent_p.T248T|ICA1_ENST00000422063.2_Silent_p.T248T|ICA1_ENST00000265577.7_Silent_p.T247T	p.T248T			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	8	1010	-		Ovarian(82;0.0612)	248			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.744T>A	CCDS34602.1																																																																																				0.398	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		6	88	0	0	0	0.029380	0	6	88				
DNAJA4	55466	broad.mit.edu	37	15	78557113	78557113	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:78557113A>G	ENST00000394852.3	+	1	198	c.8A>G	c.(7-9)aAg>aGg	p.K3R	RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000446172.2_5'Flank|DNAJA4_ENST00000489435.2_Missense_Mutation_p.K32R|DNAJA4_ENST00000394855.3_Missense_Mutation_p.K32R|DNAJA4_ENST00000343789.3_Missense_Mutation_p.K3R|RP11-762H8.3_ENST00000558971.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	3					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGATGGTGAAGGAGACCCAG	0.716																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(94-96)aAg>aGg		DnaJ (Hsp40) homolog, subfamily A, member 4							28.0	26.0	26.0					15																	78557113		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78557113A>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.8A>G	15.37:g.78557113A>G	ENSP00000378321:p.Lys3Arg					DNAJA4_ENST00000489435.2_Missense_Mutation_p.K32R|DNAJA4_ENST00000394852.3_Missense_Mutation_p.K3R|DNAJA4_ENST00000343789.3_Missense_Mutation_p.K3R	p.K32R	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			2	323	+			3			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.95A>G	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794724	0.31777	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.65	3.53	0.40419	Heat shock protein DnaJ, N-terminal (2);	0.157431	0.52532	D	0.000067	T	0.65048	0.2654	L	0.33792	1.035	0.80722	D	1	B;B	0.23650	0.022;0.089	B;B	0.33339	0.049;0.162	T	0.59096	-0.7518	10	0.44086	T	0.13	0.0267	9.2891	0.37775	0.9131:0.0:0.0869:0.0	.	3;32	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	R	32;32;3;3	ENSP00000378324:K32R;ENSP00000438263:K32R;ENSP00000339581:K3R;ENSP00000378321:K3R	ENSP00000339581:K3R	K	+	2	0	DNAJA4	76344168	1.000000	0.71417	0.983000	0.44433	0.005000	0.04900	6.607000	0.74163	0.648000	0.30732	-0.379000	0.06801	AAG		0.716	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		3	13	0	0	0	0.115264	0	3	13				
TTN	7273	broad.mit.edu	37	2	179529439	179529439	+	Intron	SNP	G	G	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:179529439G>T	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V12048V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAGGGACAATTTCTT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36142-36144)gtC>gtA		titin							58.0	55.0	56.0					2																	179529439		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529439G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+5505C>A	2.37:g.179529439G>T						TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	p.V12048V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		167	36368	-			10196			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.36144C>A		.	.	.	.	.	.	.	.	.	.	G	5.275	0.236139	0.10023	.	.	ENSG00000155657	ENST00000425332	.	.	.	5.37	0.218	0.15270	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.20403	N	0.999904	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	.	6.7215	0.23332	0.2685:0.3469:0.3846:0.0	.	.	.	.	Y	112	.	.	S	-	2	0	TTN	179237684	0.000000	0.05858	0.291000	0.24904	0.882000	0.50991	-1.477000	0.02331	0.049000	0.15920	-0.142000	0.14014	TCC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	56	1	0	1.06961e-07	0.038147	1.12179e-07	8	56				
SEMA5B	54437	broad.mit.edu	37	3	122629104	122629104	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:122629104G>A	ENST00000357599.3	-	23	3728	c.3342C>T	c.(3340-3342)ttC>ttT	p.F1114F	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.F1168F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1114					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAATGGGTAGAAGTTGGCTC	0.537																																						ENST00000357599.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(3340-3342)ttC>ttT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							222.0	185.0	198.0					3																	122629104		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629104G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3342C>T	3.37:g.122629104G>A						SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.F1168F	p.F1114F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	23	3728	-			1114					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.3342C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	8.595	0.885582	0.17540	.	.	ENSG00000082684	ENST00000451541	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	T	0.72724	0.3496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71163	-0.4673	4	.	.	.	.	17.1675	0.86820	0.0:0.0:1.0:0.0	.	.	.	.	F	160	.	.	S	-	2	0	SEMA5B	124111794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.619000	0.54196	2.643000	0.89663	0.650000	0.86243	TCT		0.537	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		41	129	0	0	0	0.117977	0	41	129				
YPEL1	29799	broad.mit.edu	37	22	22057704	22057704	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:22057704G>A	ENST00000339468.3	-	4	608	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	75						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGTAGATGTCGGCAACCGCAT	0.642																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(223-225)gcC>gcT		yippee-like 1 (Drosophila)							146.0	118.0	128.0					22																	22057704		2203	4300	6503	SO:0001819	synonymous_variant	29799					nucleus		g.chr22:22057704G>A	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.225C>T	22.37:g.22057704G>A							p.A75A	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			4	608	-	Colorectal(54;0.105)		75					Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	c.225C>T	CCDS13794.1																																																																																				0.642	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		32	70	0	0	0	0.173368	0	32	70				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	140	0	0	0	0.029380	0	6	140				
CRELD2	79174	broad.mit.edu	37	22	50319169	50319169	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:50319169G>A	ENST00000328268.4	+	9	1047	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CRELD2_ENST00000404488.3_Missense_Mutation_p.E374K|CRELD2_ENST00000403427.3_Missense_Mutation_p.E297K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E293K	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	325	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> G (in dbSNP:rs11545763). {ECO:0000269|PubMed:15489334}.			endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCTTCGAAGAAACGGAAGA	0.587																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(1120-1122)Gaa>Aaa		cysteine-rich with EGF-like domains 2							106.0	99.0	101.0					22																	50319169		2203	4300	6503	SO:0001583	missense	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50319169G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.973G>A	22.37:g.50319169G>A	ENSP00000332223:p.Glu325Lys					CRELD2_ENST00000403427.3_Missense_Mutation_p.E297K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E293K|CRELD2_ENST00000328268.4_Missense_Mutation_p.E325K	p.E374K	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	10	1255	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	325					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	c.1120G>A	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062444	0.55432	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.41	4.41	0.53225	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.445019	0.24031	U	0.042196	D	0.90246	0.6950	N	0.11651	0.15	0.40640	D	0.98193	B;P;B;D;B	0.63046	0.052;0.499;0.214;0.992;0.426	B;B;B;P;B	0.61328	0.089;0.209;0.118;0.887;0.207	D	0.91287	0.5056	10	0.39692	T	0.17	.	15.9609	0.79930	0.0:0.0:1.0:0.0	.	293;374;297;325;325	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1	.;.;.;.;CREL2_HUMAN	K	374;325;293;297	ENSP00000383938:E374K;ENSP00000332223:E325K;ENSP00000386034:E293K;ENSP00000384111:E297K	ENSP00000332223:E325K	E	+	1	0	CRELD2	48705173	1.000000	0.71417	0.018000	0.16275	0.006000	0.05464	5.808000	0.69165	2.051000	0.60960	0.626000	0.83405	GAA		0.587	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		19	43	0	0	0	0.069288	0	19	43				
ANK3	288	broad.mit.edu	37	10	61831953	61831953	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831953C>T	ENST00000280772.2	-	37	8877	c.8686G>A	c.(8686-8688)Gaa>Aaa	p.E2896K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2896					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATAAATTCATTCTTTTGA	0.353																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8686-8688)Gaa>Aaa		ankyrin 3, node of Ranvier (ankyrin G)							65.0	66.0	66.0					10																	61831953		2201	4298	6499	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831953C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8686G>A	10.37:g.61831953C>T	ENSP00000280772:p.Glu2896Lys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.E2896K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8877	-			2896					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8686G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276096	0.23307	.	.	ENSG00000151150	ENST00000280772	T	0.63744	-0.06	5.73	4.81	0.61882	.	0.547977	0.14899	N	0.291926	T	0.46698	0.1406	N	0.19112	0.55	0.50632	D	0.999888	B	0.20052	0.041	B	0.16722	0.016	T	0.31052	-0.9957	10	0.28530	T	0.3	.	11.5593	0.50768	0.1406:0.7242:0.1352:0.0	.	2896	Q12955	ANK3_HUMAN	K	2896	ENSP00000280772:E2896K	ENSP00000280772:E2896K	E	-	1	0	ANK3	61501959	1.000000	0.71417	0.044000	0.18714	0.953000	0.61014	3.489000	0.53237	1.383000	0.46405	0.555000	0.69702	GAA		0.353	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		20	52	0	0	0	0.069288	0	20	52				
CCDC42	146849	broad.mit.edu	37	17	8638891	8638891	+	Silent	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:8638891C>A	ENST00000293845.3	-	5	757	c.531G>T	c.(529-531)acG>acT	p.T177T	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	177										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGCTCACCAGCGTCTTGTAGC	0.627																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(529-531)acG>acT		coiled-coil domain containing 42							61.0	53.0	56.0					17																	8638891		2203	4300	6503	SO:0001819	synonymous_variant	146849							g.chr17:8638891C>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.531G>T	17.37:g.8638891C>A						CCDC42_ENST00000539522.2_Intron	p.T177T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			5	757	-			177	Missing (in Ref. 2; AAH29224).				Q8N6Q0	Silent	SNP	ENST00000293845.3	37	c.531G>T	CCDS11145.1																																																																																				0.627	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		16	20	1	0	1.99824e-07	0.160694	2.08301e-07	16	20				
CMTR1	23070	broad.mit.edu	37	6	37429416	37429416	+	Missense_Mutation	SNP	G	G	A	rs201318299		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:37429416G>A	ENST00000373451.4	+	11	1351	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	396	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TCCATTGTCCGGACAGGTGAC	0.537																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1186-1188)cGg>cAg									92.0	82.0	86.0					6																	37429416		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429416G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1187G>A	6.37:g.37429416G>A	ENSP00000362550:p.Arg396Gln					FTSJD2_ENST00000493656.1_3'UTR	p.R396Q	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			11	1351	+			396					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1187G>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	36	5.931314	0.97116	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.48522	0.81;0.81	5.76	5.76	0.90799	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.945	T	0.70357	-0.4894	10	0.51188	T	0.08	-17.2517	18.9443	0.92616	0.0:0.0:1.0:0.0	.	340;396	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	Q	396;340;340	ENSP00000362550:R396Q;ENSP00000414233:R340Q	ENSP00000362526:R340Q	R	+	2	0	FTSJD2	37537394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.725000	0.93324	0.591000	0.81541	CGG		0.537	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		3	74	0	0	0	0.150653	0	3	74				
RECK	8434	broad.mit.edu	37	9	36117110	36117110	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:36117110A>G	ENST00000377966.3	+	17	2755	c.2189A>G	c.(2188-2190)gAg>gGg	p.E730G		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	730	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACCACATGGAGCACAACAAT	0.453																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2188-2190)gAg>gGg		reversion-inducing-cysteine-rich protein with kazal motifs							152.0	134.0	140.0					9																	36117110		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36117110A>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2189A>G	9.37:g.36117110A>G	ENSP00000367202:p.Glu730Gly						p.E730G	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		17	2755	+			730			Kazal-like 2.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2189A>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028200	0.54790	.	.	ENSG00000122707	ENST00000377966	T	0.04502	3.61	5.91	5.91	0.95273	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.213975	0.41712	D	0.000821	T	0.08758	0.0217	L	0.56769	1.78	0.42369	D	0.992449	P;P	0.39576	0.679;0.679	B;B	0.41135	0.348;0.348	T	0.18840	-1.0324	10	0.33940	T	0.23	-17.5552	14.3004	0.66346	1.0:0.0:0.0:0.0	.	730;730	A8K9D8;O95980	.;RECK_HUMAN	G	730	ENSP00000367202:E730G	ENSP00000367202:E730G	E	+	2	0	RECK	36107110	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.282000	0.65615	2.254000	0.74563	0.533000	0.62120	GAG		0.453	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			5	52	0	0	0	0.021553	0	5	52				
TTN	7273	broad.mit.edu	37	2	179529438	179529438	+	Intron	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:179529438G>A	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P12049S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTCAGGGACAATTTCT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36145-36147)Cct>Tct		titin							58.0	56.0	56.0					2																	179529438		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529438G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+5506C>T	2.37:g.179529438G>A						TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	p.P12049S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		167	36369	-			10197			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36145C>T		.	.	.	.	.	.	.	.	.	.	G	12.74	2.027589	0.35797	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	5.37	2.47	0.30058	.	.	.	.	.	T	0.26666	0.0652	.	.	.	0.46609	D	0.999124	P	0.38788	0.647	B	0.31495	0.131	T	0.03306	-1.1050	7	0.17832	T	0.49	.	8.6374	0.33957	0.1345:0.2397:0.6258:0.0	.	323	Q71S18	.	S	323;175	.	ENSP00000376219:P175S	P	-	1	0	TTN	179237683	0.000000	0.05858	0.503000	0.27626	0.894000	0.52154	0.377000	0.20552	0.295000	0.22570	0.650000	0.86243	CCT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	56	0	0	0	0.047766	0	9	56				
CIITA	4261	broad.mit.edu	37	16	10995908	10995908	+	Silent	SNP	T	T	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr16:10995908T>A	ENST00000324288.8	+	7	628	c.495T>A	c.(493-495)acT>acA	p.T165T	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	165					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCCCCCCACTGTGGTGACTG	0.647			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(493-495)acT>acA		class II, major histocompatibility complex, transactivator							104.0	109.0	107.0					16																	10995908		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995908T>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.495T>A	16.37:g.10995908T>A						CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	p.T165T	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			7	628	+			165					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.495T>A	CCDS10544.1																																																																																				0.647	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		4	127	0	0	0	0.150653	0	4	127				
APOA5	116519	broad.mit.edu	37	11	116661546	116661546	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:116661546C>T	ENST00000227665.4	-	3	433	c.399G>A	c.(397-399)acG>acA	p.T133T	APOA5_ENST00000542499.1_Silent_p.T133T|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	133					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCAGATCCATCGTGTAGGGCT	0.652																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(397-399)acG>acA		apolipoprotein A-V							67.0	64.0	65.0					11																	116661546		2201	4296	6497	SO:0001819	synonymous_variant	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661546C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.399G>A	11.37:g.116661546C>T						APOA5_ENST00000227665.4_Silent_p.T133T	p.T133T	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	471	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	133					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Silent	SNP	ENST00000227665.4	37	c.399G>A	CCDS8376.2																																																																																				0.652	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			28	17	0	0	0	0.134883	0	28	17				
ECSCR	641700	broad.mit.edu	37	5	138842247	138842247	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:138842247G>A	ENST00000515823.1	-	1	81	c.9C>T	c.(7-9)acC>acT	p.T3T		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	3					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGCTCCTGCGGTGCCCATGT	0.632																																						ENST00000515823.1																			0											c.(7-9)acC>acT		endothelial cell surface expressed chemotaxis and apoptosis regulator							22.0	25.0	24.0					5																	138842247		2106	4231	6337	SO:0001819	synonymous_variant	641700				angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane		g.chr5:138842247G>A	DQ462572	CCDS75317.1	5q31.2	2012-03-21	2012-03-21			ENSG00000249751			35454	protein-coding gene	gene with protein product	"""endothelial cell-specific molecule 2"", ""apoptosis regulator through modulating IAP expression"""	615736	"""endothelial cell-specific chemotaxis regulator"""			18556573	Standard	NM_001077693		Approved	ECSM2, ARIA	uc011cze.1	Q19T08		ENST00000515823.1:c.9C>T	5.37:g.138842247G>A							p.T3T	NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN			1	81	-			3					B4E3H7|C3RSF2	Silent	SNP	ENST00000515823.1	37	c.9C>T																																																																																					0.632	ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372342.1	NM_001077693		5	7	0	0	0	0.029380	0	5	7				
KIF5C	3800	broad.mit.edu	37	2	149838001	149838001	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:149838001G>A	ENST00000435030.1	+	14	1863	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D404N|KIF5C_ENST00000397413.1_Missense_Mutation_p.D267N			O60282	KIF5C_HUMAN	kinesin family member 5C	499					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTCAATTATGACCAGAAATC	0.532																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1495-1497)Gac>Aac		kinesin family member 5C							39.0	42.0	41.0					2																	149838001		2130	4268	6398	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149838001G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1495G>A	2.37:g.149838001G>A	ENSP00000393379:p.Asp499Asn					KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D404N|KIF5C_ENST00000397413.1_Missense_Mutation_p.D267N	p.D499N			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	14	1863	+			499					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.509683	0.96386	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.84146	-1.81;-1.81;-1.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.93157	0.6554	9	0.72032	D	0.01	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	499;65	O60282;Q3LIE3	KIF5C_HUMAN;.	N	499;404;402;267	ENSP00000393379:D499N;ENSP00000410115:D404N;ENSP00000380560:D267N	ENSP00000334176:D402N	D	+	1	0	KIF5C	149546247	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	GAC		0.532	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		6	7	0	0	0	0.029380	0	6	7				
ATP5S	27109	broad.mit.edu	37	14	50789270	50789270	+	Missense_Mutation	SNP	C	C	T	rs201122682		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr14:50789270C>T	ENST00000311459.7	+	3	574	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ATP5S_ENST00000358473.1_Missense_Mutation_p.A37V|ATP5S_ENST00000426751.2_Missense_Mutation_p.A65V|ATP5S_ENST00000245448.6_Missense_Mutation_p.A65V|ATP5S_ENST00000554438.1_3'UTR	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	65	N-terminal domain.				ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CCTGACAGGGCGGCATCCGAG	0.527																																						ENST00000245448.6																			0				breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12						c.(193-195)gCg>gTg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)							67.0	62.0	64.0					14																	50789270		2203	4300	6503	SO:0001583	missense	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50789270C>T	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.194C>T	14.37:g.50789270C>T	ENSP00000308334:p.Ala65Val					ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Missense_Mutation_p.A37V|ATP5S_ENST00000426751.2_Missense_Mutation_p.A65V|ATP5S_ENST00000311459.7_Missense_Mutation_p.A65V	p.A65V	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	3	886	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		65					A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	c.194C>T	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435992	0.96168	.	.	ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000245448;ENST00000426751;ENST00000311459;ENST00000358473;ENST00000553905	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.957;1.0;1.0;1.0	D	0.96557	0.9412	10	0.41790	T	0.15	-14.6468	20.0171	0.97481	0.0:1.0:0.0:0.0	.	37;65;65;65	Q8WXQ4;Q99766-3;Q99766;Q99766-2	.;.;ATP5S_HUMAN;.	V	65;65;65;37;37	ENSP00000245448:A65V;ENSP00000389246:A65V;ENSP00000308334:A65V;ENSP00000351258:A37V	ENSP00000245448:A65V	A	+	2	0	RP11-247L20.2;ATP5S	49859020	1.000000	0.71417	0.963000	0.40424	0.868000	0.49771	7.796000	0.85898	2.723000	0.93209	0.585000	0.79938	GCG		0.527	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		20	40	0	0	0	0.062417	0	20	40				
CDKN1B	1027	broad.mit.edu	37	12	12871106	12871106	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:12871106G>A	ENST00000228872.4	+	1	1049	c.333G>A	c.(331-333)ggG>ggA	p.G111G	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Silent_p.G111G	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	111					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ATGTCAGCGGGAGCCGCCCGG	0.647																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(331-333)ggG>ggA		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							22.0	30.0	27.0					12																	12871106		2200	4299	6499	SO:0001819	synonymous_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871106G>A	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.333G>A	12.37:g.12871106G>A						CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Silent_p.G111G	p.G111G	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	1049	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	111					Q16307|Q5U0H2|Q9BUS6	Silent	SNP	ENST00000228872.4	37	c.333G>A	CCDS8653.1																																																																																				0.647	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		32	42	0	0	0	0.163468	0	32	42				
PTAR1	375743	broad.mit.edu	37	9	72338300	72338300	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:72338300C>G	ENST00000340434.4	-	6	892	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	PTAR1_ENST00000377200.5_Missense_Mutation_p.E218Q	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	297					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGCTGAATTCAACTTCTTCT	0.408																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(652-654)Gaa>Caa		protein prenyltransferase alpha subunit repeat containing 1							182.0	178.0	179.0					9																	72338300		1862	4102	5964	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72338300C>G	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.889G>C	9.37:g.72338300C>G	ENSP00000344299:p.Glu297Gln					PTAR1_ENST00000340434.4_Missense_Mutation_p.E297Q	p.E218Q			Q7Z6K3	PTAR1_HUMAN			4	654	-			297					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.652G>C	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608251|2.608251	0.46527|0.46527	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000377200;ENST00000340434|ENST00000415701	T;T|.	0.53640|.	0.61;0.61|.	5.99|5.99	5.08|5.08	0.68730|0.68730	Protein prenyltransferase (1);|.	0.101485|.	0.64402|.	D|.	0.000003|.	T|.	0.67353|.	0.2884|.	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	B|.	0.25904|.	0.137|.	B|.	0.33568|.	0.166|.	T|.	0.64947|.	-0.6287|.	10|.	0.25751|.	T|.	0.34|.	.|.	16.5824|16.5824	0.84717|0.84717	0.1315:0.8685:0.0:0.0|0.1315:0.8685:0.0:0.0	.|.	297|.	Q7Z6K3|.	PTAR1_HUMAN|.	Q|S	218;297|63	ENSP00000366405:E218Q;ENSP00000344299:E297Q|.	ENSP00000344299:E297Q|.	E|X	-|-	1|2	0|2	PTAR1|PTAR1	71528120|71528120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.870000|4.870000	0.63035|0.63035	1.514000|1.514000	0.48869|0.48869	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.408	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		59	90	0	0	0	0.139131	0	59	90				
KIF26B	55083	broad.mit.edu	37	1	245850334	245850334	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:245850334C>G	ENST00000407071.2	+	12	4489	c.4049C>G	c.(4048-4050)tCt>tGt	p.S1350C	KIF26B_ENST00000366518.4_Missense_Mutation_p.S969C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1350					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGATGACTCTTTCAACAAA	0.557																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2905-2907)tCt>tGt		kinesin family member 26B							55.0	61.0	59.0					1																	245850334		2058	4222	6280	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850334C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4049C>G	1.37:g.245850334C>G	ENSP00000385545:p.Ser1350Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.S1350C	p.S969C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3010	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1350					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2906C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600164	0.03744	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.33	5.82	3.94	0.45596	.	.	.	.	.	T	0.69708	0.3141	L	0.39898	1.24	0.09310	N	1	P;B	0.35600	0.511;0.291	B;B	0.31191	0.125;0.125	T	0.61931	-0.6961	9	0.49607	T	0.09	.	7.7657	0.28978	0.0:0.7237:0.132:0.1444	.	969;1350	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	1350;969;966	ENSP00000385545:S1350C;ENSP00000355475:S969C	ENSP00000355475:S969C	S	+	2	0	KIF26B	243916957	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	1.739000	0.38217	1.473000	0.48159	-0.258000	0.10820	TCT		0.557	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		13	19	0	0	0	0.093190	0	13	19				
DST	667	broad.mit.edu	37	6	56496810	56496810	+	Silent	SNP	G	G	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:56496810G>C	ENST00000361203.3	-	25	3208	c.3201C>G	c.(3199-3201)ctC>ctG	p.L1067L	DST_ENST00000421834.2_Silent_p.L1067L|DST_ENST00000370765.6_Silent_p.L741L|DST_ENST00000370788.2_Silent_p.L1067L|DST_ENST00000370754.5_Silent_p.L1245L|DST_ENST00000446842.2_Silent_p.L741L|DST_ENST00000244364.6_Silent_p.L741L|DST_ENST00000312431.6_Silent_p.L1067L|DST_ENST00000518935.1_Silent_p.L741L|DST_ENST00000370769.4_Silent_p.L1067L			Q03001	DYST_HUMAN	dystonin	1067					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGAGATGTAGAGATTATAAA	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3733-3735)ctC>ctG		dystonin							87.0	87.0	87.0					6																	56496810		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496810G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3201C>G	6.37:g.56496810G>C						DST_ENST00000370769.4_Silent_p.L1067L|DST_ENST00000446842.2_Silent_p.L741L|DST_ENST00000370765.6_Silent_p.L741L|DST_ENST00000312431.6_Silent_p.L1067L|DST_ENST00000361203.3_Silent_p.L1067L|DST_ENST00000518935.1_Silent_p.L741L|DST_ENST00000244364.6_Silent_p.L741L|DST_ENST00000370788.2_Silent_p.L1067L|DST_ENST00000421834.2_Silent_p.L1067L	p.L1245L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		28	3734	-	Lung NSC(77;0.103)		1067					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.3735C>G																																																																																					0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	38	0	0	0	0.160694	0	17	38				
PTPRD	5789	broad.mit.edu	37	9	8484233	8484233	+	Missense_Mutation	SNP	G	G	A	rs200684369		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:8484233G>A	ENST00000381196.4	-	27	3842	c.3299C>T	c.(3298-3300)aCg>aTg	p.T1100M	PTPRD_ENST00000397617.3_Missense_Mutation_p.T679M|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1100M|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1100M|PTPRD_ENST00000397606.3_Missense_Mutation_p.T679M|PTPRD_ENST00000397611.3_Missense_Mutation_p.T686M|PTPRD_ENST00000537002.1_Missense_Mutation_p.T686M|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1087M|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1078M|PTPRD_ENST00000486161.1_Missense_Mutation_p.T689M|PTPRD_ENST00000355233.5_Missense_Mutation_p.T689M|PTPRD_ENST00000471274.1_5'Flank	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1100	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCTTTGCCGTGACCCTGTG	0.483										TSP Lung(15;0.13)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		17675	0.0		0.0	False		,,,				2504	0.0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3298-3300)aCg>aTg		protein tyrosine phosphatase, receptor type, D							158.0	129.0	139.0					9																	8484233		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484233G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3299C>T	9.37:g.8484233G>A	ENSP00000370593:p.Thr1100Met	TSP Lung(15;0.13)				PTPRD_ENST00000537002.1_Missense_Mutation_p.T686M|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1078M|PTPRD_ENST00000486161.1_Missense_Mutation_p.T689M|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1087M|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1100M|PTPRD_ENST00000355233.5_Missense_Mutation_p.T689M|PTPRD_ENST00000397606.3_Missense_Mutation_p.T679M|PTPRD_ENST00000397611.3_Missense_Mutation_p.T686M|PTPRD_ENST00000397617.3_Missense_Mutation_p.T679M|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1100M	p.T1100M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3842	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1100			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3299C>T	CCDS43786.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.26	3.584795	0.65992	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.155524	0.64402	D	0.000020	T	0.60392	0.2265	L	0.38175	1.15	0.58432	D	0.999999	D;B;D;P;B;D;D;P;D	0.64830	0.981;0.079;0.958;0.888;0.18;0.994;0.991;0.625;0.985	P;B;B;B;B;P;P;B;P	0.56278	0.508;0.002;0.13;0.18;0.216;0.642;0.795;0.336;0.628	T	0.52764	-0.8532	9	.	.	.	.	20.2312	0.98350	0.0:0.0:1.0:0.0	.	679;684;689;689;686;686;1087;1100;1100	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	1100;1100;1087;1078;689;679;686;686;1100;689;679	ENSP00000370593:T1100M;ENSP00000348812:T1100M;ENSP00000353187:T1087M;ENSP00000351293:T1078M;ENSP00000347373:T689M;ENSP00000380741:T679M;ENSP00000380735:T686M;ENSP00000440515:T686M;ENSP00000438164:T1100M;ENSP00000417093:T689M;ENSP00000380731:T679M	.	T	-	2	0	PTPRD	8474233	1.000000	0.71417	0.123000	0.21794	0.193000	0.23685	7.904000	0.87408	2.882000	0.98803	0.655000	0.94253	ACG		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	49	0	0	0	0.083992	0	24	49				
SLTM	79811	broad.mit.edu	37	15	59172279	59172279	+	Silent	SNP	T	T	C			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:59172279T>C	ENST00000380516.2	-	21	3111	c.3024A>G	c.(3022-3024)gtA>gtG	p.V1008V	SLTM_ENST00000536328.1_Silent_p.V577V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	1008					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTGATTTGTACAATTCTAT	0.413																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(3022-3024)gtA>gtG		SAFB-like, transcription modulator							58.0	58.0	58.0					15																	59172279		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59172279T>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.3024A>G	15.37:g.59172279T>C						SLTM_ENST00000536328.1_Silent_p.V577V	p.V1008V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			21	3111	-			1008					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.3024A>G	CCDS10168.2																																																																																				0.413	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		7	55	0	0	0	0.029380	0	7	55				
NCK2	8440	broad.mit.edu	37	2	106498358	106498358	+	Silent	SNP	A	A	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:106498358A>G	ENST00000233154.4	+	4	1243	c.801A>G	c.(799-801)ccA>ccG	p.P267P	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.P267P	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	267					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CGCACGCCCCACAGATAAGCT	0.667																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(799-801)ccA>ccG		NCK adaptor protein 2							44.0	44.0	44.0					2																	106498358		2203	4299	6502	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498358A>G	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.801A>G	2.37:g.106498358A>G						NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.P267P|NCK2_ENST00000522586.1_Intron	p.P267P	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	1243	+			267					D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.801A>G	CCDS33266.1																																																																																				0.667	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		19	32	0	0	0	0.055883	0	19	32				
PDE11A	50940	broad.mit.edu	37	2	178592823	178592823	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:178592823G>A	ENST00000286063.6	-	11	2183	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A	PDE11A_ENST00000389683.3_Silent_p.A178A|PDE11A_ENST00000449286.2_Silent_p.A264A|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.A264A|PDE11A_ENST00000358450.4_Silent_p.A372A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	622					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGTGATCATGGCATCAACGT	0.443									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1864-1866)gcC>gcT		phosphodiesterase 11A							97.0	92.0	94.0					2																	178592823		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178592823G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1866C>T	2.37:g.178592823G>A						PDE11A_ENST00000449286.2_Silent_p.A264A|PDE11A_ENST00000409504.1_Silent_p.A264A|PDE11A_ENST00000358450.4_Silent_p.A372A|PDE11A_ENST00000389683.3_Silent_p.A178A|PDE11A_ENST00000497003.1_5'UTR	p.A622A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		11	2183	-			622					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1866C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998685	0.19121	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.71358	0.3330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69676	-0.5081	4	.	.	.	.	15.1299	0.72514	0.0:0.0:0.8581:0.1419	.	.	.	.	L	230	.	.	P	-	2	0	PDE11A	178301069	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.210000	0.51129	2.609000	0.88269	0.563000	0.77884	CCA		0.443	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			23	38	0	0	0	0.091800	0	23	38				
ANK3	288	broad.mit.edu	37	10	61831830	61831830	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831830C>T	ENST00000280772.2	-	37	9000	c.8809G>A	c.(8809-8811)Gaa>Aaa	p.E2937K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2937					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGTCCCCTTCTTTCACAACA	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8809-8811)Gaa>Aaa		ankyrin 3, node of Ranvier (ankyrin G)							71.0	70.0	70.0					10																	61831830		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831830C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8809G>A	10.37:g.61831830C>T	ENSP00000280772:p.Glu2937Lys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.E2937K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9000	-			2937					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8809G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010509	0.35511	.	.	ENSG00000151150	ENST00000280772	T	0.66815	-0.23	5.43	5.43	0.79202	.	0.515454	0.16078	N	0.230680	T	0.57607	0.2065	N	0.19112	0.55	0.80722	D	1	B	0.18013	0.025	B	0.19391	0.025	T	0.53795	-0.8388	10	0.59425	D	0.04	.	19.2364	0.93862	0.0:1.0:0.0:0.0	.	2937	Q12955	ANK3_HUMAN	K	2937	ENSP00000280772:E2937K	ENSP00000280772:E2937K	E	-	1	0	ANK3	61501836	1.000000	0.71417	0.329000	0.25429	0.712000	0.41017	3.279000	0.51670	2.556000	0.86216	0.455000	0.32223	GAA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		14	38	0	0	0	0.105934	0	14	38				
GALR2	8811	broad.mit.edu	37	17	74072818	74072818	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:74072818C>G	ENST00000329003.3	+	2	560	c.470C>G	c.(469-471)tCc>tGc	p.S157C	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	157					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTGCTCTTCTCCGGGCCCTAC	0.692																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(469-471)tCc>tGc		galanin receptor 2							25.0	26.0	26.0					17																	74072818		2202	4298	6500	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74072818C>G	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.470C>G	17.37:g.74072818C>G	ENSP00000329684:p.Ser157Cys						p.S157C	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	560	+			157					A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.470C>G	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700553	0.88924	.	.	ENSG00000182687	ENST00000329003	T	0.44482	0.92	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.63331	0.2502	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.66097	-0.6008	10	0.52906	T	0.07	.	17.3019	0.87184	0.0:1.0:0.0:0.0	.	157	O43603	GALR2_HUMAN	C	157	ENSP00000329684:S157C	ENSP00000329684:S157C	S	+	2	0	GALR2	71584413	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.711000	0.84669	2.190000	0.69967	0.462000	0.41574	TCC		0.692	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			14	35	0	0	0	0.132662	0	14	35				
RYR2	6262	broad.mit.edu	37	1	237713931	237713931	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:237713931G>A	ENST00000366574.2	+	27	3471	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1036K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1050K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1052	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1050K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCTCCGCGAGGCTGTGCG	0.493																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.E1050K(1)	breast(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3154-3156)Gag>Aag		ryanodine receptor 2 (cardiac)							92.0	92.0	92.0					1																	237713931		1924	4142	6066	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237713931G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3154G>A	1.37:g.237713931G>A	ENSP00000355533:p.Glu1052Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.E1036K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1050K	p.E1052K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		27	3471	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1052			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3154G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351545	0.95830	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93247	-3.19;-3.19;-3.19	5.14	5.14	0.70334	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.53938	U	0.000049	D	0.95172	0.8435	M	0.90759	3.145	0.80722	D	1	D	0.54047	0.964	P	0.44518	0.452	D	0.96305	0.9224	10	0.87932	D	0	.	18.6043	0.91261	0.0:0.0:1.0:0.0	.	1052	Q92736	RYR2_HUMAN	K	1052;1050;1036	ENSP00000355533:E1052K;ENSP00000353174:E1050K;ENSP00000443798:E1036K	ENSP00000353174:E1050K	E	+	1	0	RYR2	235780554	1.000000	0.71417	0.932000	0.37286	0.790000	0.44656	7.875000	0.87205	2.393000	0.81446	0.563000	0.77884	GAG		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	6	0	0	0	0.029380	0	6	6				
MVB12B	89853	broad.mit.edu	37	9	129157913	129157913	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:129157913C>T	ENST00000361171.3	+	6	680	c.599C>T	c.(598-600)tCa>tTa	p.S200L	MVB12B_ENST00000535766.1_Missense_Mutation_p.S193L|MVB12B_ENST00000436593.3_Missense_Mutation_p.S185L|MVB12B_ENST00000545391.1_Missense_Mutation_p.S200L	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	200					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										AATCATGACTCATCTCAACCC	0.532																																						ENST00000361171.3																			0											c.(598-600)tCa>tTa		multivesicular body subunit 12B							200.0	173.0	182.0					9																	129157913		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129157913C>T	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.599C>T	9.37:g.129157913C>T	ENSP00000354772:p.Ser200Leu					MVB12B_ENST00000535766.1_Missense_Mutation_p.S193L|MVB12B_ENST00000436593.3_Missense_Mutation_p.S185L|MVB12B_ENST00000545391.1_Missense_Mutation_p.S200L	p.S200L	NM_033446.2	NP_258257.1					6	680	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.599C>T	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617872	0.87359	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.69	5.69	0.88448	.	0.060576	0.64402	D	0.000002	T	0.57154	0.2034	L	0.55103	1.725	0.80722	D	1	D;P;D;P	0.57571	0.98;0.905;0.98;0.826	P;P;P;B	0.59487	0.858;0.475;0.816;0.294	T	0.45131	-0.9282	10	0.24483	T	0.36	-3.25	19.8045	0.96525	0.0:1.0:0.0:0.0	.	193;185;69;200	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	L	200;200;185;185;193	ENSP00000354772:S200L;ENSP00000441988:S200L;ENSP00000384751:S185L;ENSP00000401379:S185L;ENSP00000442846:S193L	ENSP00000354772:S200L	S	+	2	0	FAM125B	128197734	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	5.286000	0.65639	2.676000	0.91093	0.655000	0.94253	TCA		0.532	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		57	91	0	0	0	0.139131	0	57	91				
DENND2A	27147	broad.mit.edu	37	7	140266910	140266910	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:140266910T>A	ENST00000275884.6	-	8	2172	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D	DENND2A_ENST00000492720.1_Missense_Mutation_p.E585D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E585D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E585D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	585	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTGGGTGAGTTCTGGCACGT	0.562																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1753-1755)gaA>gaT		DENN/MADD domain containing 2A							31.0	35.0	33.0					7																	140266910		1951	4143	6094	SO:0001583	missense	27147							g.chr7:140266910T>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1755A>T	7.37:g.140266910T>A	ENSP00000275884:p.Glu585Asp					DENND2A_ENST00000496613.1_Missense_Mutation_p.E585D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E585D|DENND2A_ENST00000492720.1_Missense_Mutation_p.E585D	p.E585D			Q9ULE3	DEN2A_HUMAN			8	2172	-	Melanoma(164;0.00956)		585			UDENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1755A>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562465	0.86335	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.71	-3.38	0.04883	uDENN (3);	0.119155	0.56097	D	0.000032	T	0.60038	0.2238	M	0.62016	1.91	0.38310	D	0.943227	D;P	0.76494	0.999;0.862	D;D	0.69307	0.963;0.95	T	0.65088	-0.6253	10	0.49607	T	0.09	-20.3987	16.2273	0.82306	0.0:0.6415:0.0:0.3585	.	585;585	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	D	585	ENSP00000275884:E585D;ENSP00000442245:E585D;ENSP00000419654:E585D;ENSP00000419464:E585D	ENSP00000275884:E585D	E	-	3	2	DENND2A	139913379	0.911000	0.30947	0.928000	0.36995	0.971000	0.66376	-0.025000	0.12413	-0.515000	0.06479	0.533000	0.62120	GAA		0.562	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		6	5	0	0	0	0.029380	0	6	5				
ACOT2	10965	broad.mit.edu	37	14	74040259	74040259	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr14:74040259G>A	ENST00000238651.5	+	2	993	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	ACOT2_ENST00000538782.1_Missense_Mutation_p.E74K	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	271					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGAGTACTTTGAAGAAGCCAT	0.453																																						ENST00000238651.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(811-813)Gaa>Aaa		acyl-CoA thioesterase 2							234.0	193.0	207.0					14																	74040259		2203	4299	6502	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74040259G>A	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.811G>A	14.37:g.74040259G>A	ENSP00000238651:p.Glu271Lys					ACOT2_ENST00000538782.1_Missense_Mutation_p.E74K	p.E271K	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	2	993	+			271					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.811G>A	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096454	0.76870	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.46063	0.88;0.88	4.27	3.38	0.38709	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.045241	0.85682	N	0.000000	T	0.67627	0.2913	M	0.90977	3.165	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.65443	0.913;0.935	T	0.73978	-0.3812	10	0.87932	D	0	-19.6479	11.7308	0.51735	0.0873:0.0:0.9127:0.0	.	271;74	P49753;B3KSA0	ACOT2_HUMAN;.	K	74;271	ENSP00000440961:E74K;ENSP00000238651:E271K	ENSP00000238651:E271K	E	+	1	0	ACOT2	73110012	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.503000	0.81632	0.764000	0.33197	0.411000	0.27672	GAA		0.453	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		62	89	0	0	0	0.139131	0	62	89				
TP53I3	9540	broad.mit.edu	37	2	24302332	24302332	+	Silent	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:24302332C>T	ENST00000238721.4	-	4	1652	c.798G>A	c.(796-798)ctG>ctA	p.L266L	TP53I3_ENST00000335934.4_Silent_p.L266L|TP53I3_ENST00000407482.1_Intron|TP53I3_ENST00000313482.4_Intron|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'Flank	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	266					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGACCTCAGCAAACTGG	0.438																																						ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(796-798)ctG>ctA		tumor protein p53 inducible protein 3							136.0	133.0	134.0					2																	24302332		2203	4300	6503	SO:0001819	synonymous_variant	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24302332C>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.798G>A	2.37:g.24302332C>T						TP53I3_ENST00000335934.4_Silent_p.L266L|TP53I3_ENST00000313482.4_Intron|TP53I3_ENST00000407482.1_Intron|FAM228B_ENST00000461972.1_Intron	p.L266L	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN			4	1652	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		266					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	ENST00000238721.4	37	c.798G>A	CCDS1708.1																																																																																				0.438	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		35	90	0	0	0	0.080422	0	35	90				
LY9	4063	broad.mit.edu	37	1	160771628	160771628	+	Intron	SNP	G	G	A	rs369757789		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:160771628G>A	ENST00000263285.6	+	2	484				LY9_ENST00000368040.1_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368039.2_Missense_Mutation_p.R168H|LY9_ENST00000368041.2_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000392203.4_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R168H(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGTGACCACCGCACACTCCTG	0.572																																						ENST00000368039.2																			1	Substitution - Missense(1)	p.R168H(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(502-504)cGc>cAc		lymphocyte antigen 9							121.0	124.0	123.0					1																	160771628		2203	4300	6503	SO:0001627	intron_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160771628G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1756G>A	1.37:g.160771628G>A						LY9_ENST00000263285.5_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron	p.R168H	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	504	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		0			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.503G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272906	0.10349	.	.	ENSG00000122224	ENST00000368039	T	0.37584	1.19	0.158	0.158	0.14942	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.80722	D	1	P	0.37997	0.614	B	0.20767	0.031	T	0.13202	-1.0518	7	0.44086	T	0.13	.	.	.	.	.	168	Q6P2J4	.	H	168	ENSP00000357018:R168H	ENSP00000357018:R168H	R	+	2	0	LY9	159038252	1.000000	0.71417	0.029000	0.17559	0.030000	0.12068	3.382000	0.52463	0.202000	0.20498	0.205000	0.17691	CGC		0.572	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		4	148	0	0	0	0.150653	0	4	148				
DOK1	1796	broad.mit.edu	37	2	74784055	74784055	+	Silent	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:74784055C>A	ENST00000233668.5	+	5	1929	c.1260C>A	c.(1258-1260)ctC>ctA	p.L420L	M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000409429.1_Silent_p.L281L|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	420	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAAAGCCCCTCCTTGCTCCCA	0.617																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1258-1260)ctC>ctA		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							128.0	132.0	131.0					2																	74784055		2203	4300	6503	SO:0001819	synonymous_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74784055C>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1260C>A	2.37:g.74784055C>A						DOK1_ENST00000409429.1_Silent_p.L281L|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	p.L420L	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1929	+			420			Pro-rich.		O43204|Q53TY2|Q9UHG6	Silent	SNP	ENST00000233668.5	37	c.1260C>A	CCDS1954.1																																																																																				0.617	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		81	147	1	0	3.16549e-35	0.139131	3.49015e-35	81	147				
KIAA2026	158358	broad.mit.edu	37	9	5968206	5968206	+	Silent	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:5968206G>A	ENST00000399933.3	-	3	2024	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	KIAA2026_ENST00000381461.2_Silent_p.L675L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	675	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGTTAGTTTGAGTTTCTTGT	0.333																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2023-2025)ctC>ctT		KIAA2026							68.0	61.0	63.0					9																	5968206		1813	4071	5884	SO:0001819	synonymous_variant	158358							g.chr9:5968206G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2025C>T	9.37:g.5968206G>A						KIAA2026_ENST00000381461.2_Silent_p.L675L	p.L675L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	2024	-		Acute lymphoblastic leukemia(23;0.158)	675			Lys-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.2025C>T																																																																																					0.333	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		23	41	0	0	0	0.076483	0	23	41				
CTSS	1520	broad.mit.edu	37	1	150724308	150724308	+	Silent	SNP	G	G	A	rs369060138		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724308G>A	ENST00000368985.3	-	5	836	c.576C>T	c.(574-576)atC>atT	p.I192I	CTSS_ENST00000448301.2_Silent_p.I142I|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	192					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTATCAATGATGTACTGGA	0.468																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(574-576)atC>atT		cathepsin S							238.0	205.0	216.0					1																	150724308		2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724308G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.576C>T	1.37:g.150724308G>A						CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.I142I	p.I192I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	836	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		192					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.576C>T	CCDS968.1																																																																																				0.468	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		48	88	0	0	0	0.139131	0	48	88				
CAMSAP3	57662	broad.mit.edu	37	19	7677766	7677766	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr19:7677766G>A	ENST00000160298.4	+	11	2488	c.2387G>A	c.(2386-2388)aGg>aAg	p.R796K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R823K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	796	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCTTGACCAGGGTGCTTACG	0.726																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(2467-2469)aGg>aAg		calmodulin regulated spectrin-associated protein family, member 3							11.0	14.0	13.0					19																	7677766		1975	4093	6068	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677766G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2387G>A	19.37:g.7677766G>A	ENSP00000160298:p.Arg796Lys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R796K	p.R823K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	2569	+			796			Pro-rich.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.2468G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.431882	0.83776	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.39787	1.09;1.06	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.64997	1.995	0.28926	N	0.891857	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.921	T	0.55611	-0.8114	10	0.13470	T	0.59	-29.9269	17.5159	0.87773	0.0:0.0:1.0:0.0	.	796;823	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	823;796	ENSP00000416797:R823K;ENSP00000160298:R796K	ENSP00000160298:R796K	R	+	2	0	KIAA1543	7583766	0.996000	0.38824	0.978000	0.43139	0.811000	0.45836	6.169000	0.71913	2.436000	0.82500	0.551000	0.68910	AGG		0.726	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		3	8	0	0	0	0.115264	0	3	8				
SLC12A8	84561	broad.mit.edu	37	3	124839586	124839586	+	Intron	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:124839586C>A	ENST00000393469.4	-	6	786				RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000430155.2_Silent_p.G28G|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8						potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GCATCGCCTTCCCCAGGGCTG	0.637																																						ENST00000430155.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(82-84)ggG>ggT		solute carrier family 12, member 8							40.0	44.0	43.0					3																	124839586		692	1591	2283	SO:0001627	intron_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124839586C>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.737-56G>T	3.37:g.124839586C>A						SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Intron	p.G28G			A0AV02	S12A8_HUMAN			1	112	-			0					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.84G>T	CCDS43143.1																																																																																				0.637	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		8	7	1	0	3.09899e-07	0.047766	3.211e-07	8	7				
NFATC1	4772	broad.mit.edu	37	18	77208872	77208872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr18:77208872C>T	ENST00000427363.2	+	4	1477	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	NFATC1_ENST00000329101.4_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000318065.5_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000397790.2_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000253506.5_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000592223.1_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000591814.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000587635.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.Q480*			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	493	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCCTTCTACCAGGTGCACCG	0.622																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1477-1479)Cag>Tag		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							81.0	70.0	73.0					18																	77208872		2203	4300	6503	SO:0001587	stop_gained	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77208872C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1477C>T	18.37:g.77208872C>T	ENSP00000389377:p.Gln493*					NFATC1_ENST00000545796.1_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000397790.2_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000318065.5_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000587635.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000592223.1_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000591814.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.Q480*	p.Q493*	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	4	1846	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	493			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Nonsense_Mutation	SNP	ENST00000427363.2	37	c.1477C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.909289	0.97928	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	.	.	.	4.31	4.31	0.51392	.	0.058497	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7772	16.9798	0.86324	0.0:1.0:0.0:0.0	.	.	.	.	X	493;493;21;493;480;21;480;457	.	ENSP00000253506:Q493X	Q	+	1	0	NFATC1	75309860	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.283000	0.78640	2.230000	0.72887	0.561000	0.74099	CAG		0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		18	13	0	0	0	0.175082	0	18	13				
RPE	6120	broad.mit.edu	37	2	210867428	210867428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:210867428G>A	ENST00000359429.6	+	1	140	c.43G>A	c.(43-45)Gac>Aac	p.D15N	RPE_ENST00000540255.1_Missense_Mutation_p.D15N|RPE_ENST00000452025.1_Missense_Mutation_p.D15N|RPE_ENST00000435437.2_Missense_Mutation_p.D15N|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000354506.6_Missense_Mutation_p.D15N|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000429921.1_5'UTR|RPE_ENST00000445268.1_5'UTR|RPE_ENST00000454822.1_5'UTR|RPE_ENST00000436630.2_5'UTR	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	15					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CCTCAACAGCGACCTGGCCAA	0.617																																						ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(43-45)Gac>Aac		ribulose-5-phosphate-3-epimerase							63.0	62.0	63.0					2																	210867428		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210867428G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.43G>A	2.37:g.210867428G>A	ENSP00000352401:p.Asp15Asn					RPE_ENST00000454822.1_5'UTR|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000429921.1_5'UTR|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000354506.6_Missense_Mutation_p.D15N|RPE_ENST00000540255.1_Missense_Mutation_p.D15N|RPE_ENST00000435437.2_Missense_Mutation_p.D15N|RPE_ENST00000452025.1_Missense_Mutation_p.D15N|RPE_ENST00000445268.1_5'UTR	p.D15N	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	1	140	+			15					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.43G>A	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740213	0.96873	.	.	ENSG00000197713	ENST00000359429;ENST00000540255;ENST00000452025;ENST00000435437;ENST00000354506	.	.	.	5.1	5.1	0.69264	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	L	0.61387	1.9	0.80722	D	1	D;P;D	0.89917	0.999;0.898;1.0	D;P;D	0.97110	0.965;0.63;1.0	T	0.78914	-0.2016	9	0.66056	D	0.02	.	19.0748	0.93156	0.0:0.0:1.0:0.0	.	15;15;15	B4E016;Q96AT9;C9J9T0	.;RPE_HUMAN;.	N	15	.	ENSP00000346501:D15N	D	+	1	0	RPE	210575673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.760000	0.74939	2.817000	0.96982	0.561000	0.74099	GAC		0.617	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		16	34	0	0	0	0.132662	0	16	34				
POT1	25913	broad.mit.edu	37	7	124481048	124481048	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:124481048C>T	ENST00000357628.3	-	14	1946	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	POT1_ENST00000393329.1_Missense_Mutation_p.E319K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	450					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGTAGACATTCATTTGAAAGC	0.269																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1348-1350)Gaa>Aaa		protection of telomeres 1							98.0	98.0	98.0					7																	124481048		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124481048C>T	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1348G>A	7.37:g.124481048C>T	ENSP00000350249:p.Glu450Lys					POT1_ENST00000393329.1_Missense_Mutation_p.E319K	p.E450K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			14	1946	-			450					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1348G>A	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536344	0.45176	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.41400	1.01;1.0	5.41	3.55	0.40652	.	0.611112	0.18336	N	0.144334	T	0.29458	0.0734	L	0.34521	1.04	0.30414	N	0.778819	B	0.28713	0.22	B	0.26864	0.074	T	0.19614	-1.0300	10	0.30854	T	0.27	-5.8327	9.0862	0.36584	0.0:0.7476:0.0:0.2524	.	450	Q9NUX5	POTE1_HUMAN	K	450;319;450;450;449	ENSP00000350249:E450K;ENSP00000377002:E319K	ENSP00000265391:E449K	E	-	1	0	POT1	124268284	0.994000	0.37717	0.993000	0.49108	0.996000	0.88848	0.599000	0.24089	0.718000	0.32166	0.655000	0.94253	GAA		0.269	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			30	77	0	0	0	0.163468	0	30	77				
UNC5D	137970	broad.mit.edu	37	8	35616853	35616853	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:35616853G>A	ENST00000404895.2	+	14	2507	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	UNC5D_ENST00000449677.1_Missense_Mutation_p.E303K|UNC5D_ENST00000287272.2_Missense_Mutation_p.E658K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E722K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E732K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E660K	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	727					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTTTCAGATGAAAGGCATCA	0.378																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1972-1974)Gaa>Aaa		unc-5 homolog D (C. elegans)							125.0	122.0	123.0					8																	35616853		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35616853G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2179G>A	8.37:g.35616853G>A	ENSP00000385143:p.Glu727Lys					UNC5D_ENST00000420357.1_Missense_Mutation_p.E660K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E732K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E722K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E727K|UNC5D_ENST00000449677.1_Missense_Mutation_p.E303K	p.E658K			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	1992	+			727					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1972G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	32	5.135957	0.94517	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.73152	-0.69;-0.29;-0.33;-0.69;-0.72;1.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	D	0.87750	0.2591	10	0.87932	D	0	-20.3382	19.1711	0.93578	0.0:0.0:1.0:0.0	.	303;722;727	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	K	727;660;658;732;722;303	ENSP00000385143:E727K;ENSP00000392739:E660K;ENSP00000287272:E658K;ENSP00000412652:E732K;ENSP00000394303:E722K;ENSP00000397211:E303K	ENSP00000287272:E658K	E	+	1	0	UNC5D	35736395	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.799000	0.99117	2.518000	0.84900	0.462000	0.41574	GAA		0.378	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			37	70	0	0	0	0.069456	0	37	70				
HERC1	8925	broad.mit.edu	37	15	64026927	64026927	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:64026927C>A	ENST00000443617.2	-	13	2729	c.2642G>T	c.(2641-2643)gGa>gTa	p.G881V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	881					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCTACCTGTCCTTTAGATAA	0.403																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2641-2643)gGa>gTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							93.0	84.0	87.0					15																	64026927		1882	4110	5992	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64026927C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2642G>T	15.37:g.64026927C>A	ENSP00000390158:p.Gly881Val						p.G881V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			13	2729	-			881					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2642G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194808	0.94960	.	.	ENSG00000103657	ENST00000443617	T	0.52295	0.67	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000001	T	0.68796	0.3040	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69866	-0.5029	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	881	Q15751	HERC1_HUMAN	V	881	ENSP00000390158:G881V	ENSP00000390158:G881V	G	-	2	0	HERC1	61813980	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	GGA		0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		25	49	1	0	7.76418e-22	0.108266	8.45215e-22	25	49				
MARCH7	64844	broad.mit.edu	37	2	160615841	160615841	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:160615841G>A	ENST00000259050.4	+	7	2010	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	MARCH7_ENST00000409175.1_Missense_Mutation_p.E630K|MARCH7_ENST00000409591.1_Missense_Mutation_p.E592K|MARCH7_ENST00000539065.1_Missense_Mutation_p.E574K	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	630					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCATGCAAATGAACAAGTTAG	0.353																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1888-1890)Gaa>Aaa		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							103.0	104.0	104.0					2																	160615841		2203	4296	6499	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160615841G>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1888G>A	2.37:g.160615841G>A	ENSP00000259050:p.Glu630Lys					MARCH7_ENST00000409175.1_Missense_Mutation_p.E630K|MARCH7_ENST00000409591.1_Missense_Mutation_p.E592K|MARCH7_ENST00000539065.1_Missense_Mutation_p.E574K	p.E630K	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			7	2010	+			630					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1888G>A	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464957	0.84425	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.43294	2.7;2.71;2.7;2.7;0.95	5.49	5.49	0.81192	.	0.119463	0.56097	D	0.000028	T	0.59046	0.2165	L	0.44542	1.39	0.58432	D	0.999999	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.77557	0.99;0.98;0.98	T	0.54846	-0.8232	10	0.44086	T	0.13	-10.5411	19.7301	0.96179	0.0:0.0:1.0:0.0	.	574;592;630	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	K	630;574;630;592;63	ENSP00000386830:E630K;ENSP00000442992:E574K;ENSP00000259050:E630K;ENSP00000387238:E592K;ENSP00000391493:E63K	ENSP00000259050:E630K	E	+	1	0	MARCH7	160324087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.179000	0.77665	2.725000	0.93324	0.555000	0.69702	GAA		0.353	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		38	57	0	0	0	0.098360	0	38	57				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			100288069							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			3	4						3	4	---	---	---	---
ARID5A	10865	broad.mit.edu	37	2	97215191	97215195	+	Splice_Site	DEL	AGCAG	AGCAG	-			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:97215191_97215195delAGCAG	ENST00000357485.3	+	3	332_336	c.254_258delAGCAG	c.(253-258)aagcag>a	p.KQ85fs	ARID5A_ENST00000454558.2_Splice_Site_p.KQ17fs	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	85	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTCGGCTTCAAGCAGAGTGCGTCCC	0.678																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.e3+1		AT rich interactive domain 5A (MRF1-like)																																				SO:0001630	splice_region_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97215191_97215195delAGCAG	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.259+1AGCAG>-	2.37:g.97215191_97215195delAGCAG						ARID5A_ENST00000357485.3_Splice_Site_p.KQ85_splice	p.KQ17_splice			Q03989	ARI5A_HUMAN			3	1227_1231	+			85					Q6NX37	Splice_Site	DEL	ENST00000357485.3	37	c.55_splice	CCDS33251.1																																																																																				0.678	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481	Frame_Shift_Del	21	54						21	54	---	---	---	---
FBLL1	345630	broad.mit.edu	37	5	167956924	167956924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:167956924delG	ENST00000338333.4	+	1	804	c.415delG	c.(415-417)gagfs	p.E139fs				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	139					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										CACGGTGACCGAGGGCGGCGT	0.677																																						ENST00000338333.4																			0											c.(415-417)agfs									9.0	8.0	8.0					5																	167956924		864	1972	2836	SO:0001589	frameshift_variant	345630							g.chr5:167956924delG			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.415delG	5.37:g.167956924delG	ENSP00000473383:p.Glu139fs						p.E139fs							1	804	+									Frame_Shift_Del	DEL	ENST00000338333.4	37	c.415delG																																																																																					0.677	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		2	4						2	4	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110463612	110463618	+	Frame_Shift_Del	DEL	AAAAAAG	AAAAAAG	-			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:110463612_110463618delAAAAAAG	ENST00000261739.4	+	8	1033_1039	c.867_873delAAAAAAG	c.(865-873)gaaaaaaagfs	p.EKK289fs		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	289						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCGAGGAGGAAAAAAAGAGATATAAAG	0.406																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(865-873)gafs		ankyrin repeat domain 13A																																				SO:0001589	frameshift_variant	88455							g.chr12:110463612_110463618delAAAAAAG	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.867_873delAAAAAAG	12.37:g.110463612_110463618delAAAAAAG	ENSP00000261739:p.Glu289fs						p.EKK289fs	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			8	1033_1039	+			289					O60736	Frame_Shift_Del	DEL	ENST00000261739.4	37	c.867_873delAAAAAAG	CCDS9140.1																																																																																				0.406	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		12	92						12	92	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47282157	47282157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr19:47282157delG	ENST00000542575.2	-	5	1461	c.833delC	c.(832-834)cctfs	p.P278fs	SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.P102fs|SLC1A5_ENST00000412532.2_Frame_Shift_Del_p.P50fs|SLC1A5_ENST00000434726.2_Frame_Shift_Del_p.P76fs	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	278					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GATGCCCACAGGGGCGTACCT	0.582																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(832-834)ctfs		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						137.0	116.0	123.0					19																	47282157		2203	4300	6503	SO:0001589	frameshift_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47282157delG	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.833delC	19.37:g.47282157delG	ENSP00000444408:p.Pro278fs					SLC1A5_ENST00000434726.2_Frame_Shift_Del_p.P76fs|SLC1A5_ENST00000412532.2_Frame_Shift_Del_p.P50fs|SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.P102fs	p.P278fs	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	5	1461	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	278					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Frame_Shift_Del	DEL	ENST00000542575.2	37	c.833delC	CCDS12692.1																																																																																				0.582	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			15	27						15	27	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	lincRNA	INS	-	-	A	rs546582747|rs190702005	byFrequency	TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442									transmembrane phosphatase with tensin homology pseudogene 1																		AGGGCCTAGAGAAAAAAAAAAT	0.421													|||unknown(NO_COVERAGE)	11	0.00219649	0.0023	0.0014	5008	,	,		23257	0.001		0.001	False		,,,				2504	0.0051					ENST00000426585.1																			0																																																			387590							g.chr22:17127506_17127507insA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17127516_17127516dupA														0	442	+									RNA	INS	ENST00000426585.1	37																																																																																						0.421	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		7	87						7	87	---	---	---	---
