#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
PCDHA6	56142	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(337-339)Ccg>Acg									112.0	123.0	120.0					5																	140208013		2203	4298	6501	SO:0001583	missense	0							g.chr5:140208013C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.337C>A	5.37:g.140208013C>A	ENSP00000433378:p.Pro113Thr					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P113T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	451	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.337C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028464	0.75390	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.56103	0.58;0.48	3.87	3.87	0.44632	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002518	T	0.78923	0.4360	M	0.93939	3.475	0.43793	D	0.996339	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.80764	0.994;0.993;0.955	D	0.85512	0.1198	10	0.62326	D	0.03	.	16.3488	0.83191	0.0:1.0:0.0:0.0	.	113;113;113	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	113	ENSP00000433378:P113T;ENSP00000434113:P113T	ENSP00000434113:P113T	P	+	1	0	PCDHA6	140188197	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	4.743000	0.62110	2.139000	0.66308	0.313000	0.20887	CCG		0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		22	218	1	0	1.17739e-12	0.693898	1.43134e-12	22	218				
ELP2	55250	broad.mit.edu	37	18	33739979	33739979	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.e16+1		elongator acetyltransferase complex subunit 2							81.0	80.0	81.0					18																	33739979		2203	4300	6503	SO:0001630	splice_region_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33739979G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1688+1G>T	18.37:g.33739979G>T						ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000351393.6_Splice_Site		NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			16	1751	+								A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Splice_Site	SNP	ENST00000358232.6	37		CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315005	0.81358	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2061	0.86918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP2	31993977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.318000	0.96334	2.745000	0.94114	0.484000	0.47621	.		0.383	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	Intron	5	55	1	0	0.307466	0.307466	0.3231	5	55				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	43	0	0	0	0.115264	0	3	43				
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4513-4515)gaC>gaA		FRAS1 related extracellular matrix protein 2							118.0	109.0	112.0					13																	39265996		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265996C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4515C>A	13.37:g.39265996C>A	ENSP00000280481:p.Asp1505Glu						p.D1505E	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4731	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1505					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4515C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255388	0.59321	.	.	ENSG00000150893	ENST00000280481	T	0.50001	0.76	6.07	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.96489	3.83	0.58432	D	0.999999	D	0.65815	0.995	D	0.64410	0.925	T	0.82468	-0.0442	10	0.62326	D	0.03	.	13.9506	0.64113	0.0:0.8775:0.0:0.1225	.	1505	Q5SZK8	FREM2_HUMAN	E	1505	ENSP00000280481:D1505E	ENSP00000280481:D1505E	D	+	3	2	FREM2	38163996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.688000	0.37690	2.890000	0.99128	0.650000	0.86243	GAC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	111	1	0	0.014758	0.184627	0.0163392	4	111				
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGTGTCCCGCTGCGGCTGCGG	0.726																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(205-207)cTg>cAg		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						16.0	21.0	19.0					5																	131630515		2198	4286	6484	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630515T>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.206T>A	5.37:g.131630515T>A	ENSP00000200652:p.Leu69Gln					P4HA2_ENST00000471826.1_Intron	p.L69Q	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	380	+		all_cancers(142;0.0752)|Breast(839;0.198)	69					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.206T>A	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240128	0.39598	.	.	ENSG00000197208	ENST00000200652	T	0.75938	-0.98	4.54	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.770532	0.11770	N	0.531169	T	0.70692	0.3253	M	0.69463	2.115	0.22762	N	0.998766	B	0.22683	0.073	B	0.22601	0.04	T	0.57768	-0.7754	10	0.27785	T	0.31	.	10.1861	0.42998	0.0:0.0:0.1672:0.8328	.	69	Q9H015	S22A4_HUMAN	Q	69	ENSP00000200652:L69Q	ENSP00000200652:L69Q	L	+	2	0	SLC22A4	131658414	0.006000	0.16342	0.812000	0.32479	0.976000	0.68499	0.009000	0.13219	0.831000	0.34780	0.459000	0.35465	CTG		0.726	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	15	0	0	0	0.361761	0	8	15				
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(1306-1308)gcG>gcT		mitogen-activated protein kinase kinase kinase 5							146.0	153.0	151.0					6																	136990479		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990479C>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1308G>T	6.37:g.136990479C>A							p.A436A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1668	-	Colorectal(23;0.24)		436					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1308G>T	CCDS5179.1																																																																																				0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			28	109	1	0	2.47511e-08	0.729181	2.84179e-08	28	109				
FAF1	11124	broad.mit.edu	37	1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T	rs370452298		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458																																						ENST00000396153.2																			3	Whole gene deletion(3)	p.0?(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(253-255)cGa>cAa		Fas (TNFRSF6) associated factor 1							111.0	98.0	103.0					1																	51253785		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51253785C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.254G>A	1.37:g.51253785C>T	ENSP00000379457:p.Arg85Gln					FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	4	705	-			85					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.254G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049354	0.55218	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.96	5.05	0.67936	.	0.059993	0.64402	D	0.000001	T	0.26448	0.0646	N	0.19112	0.55	0.80722	D	1	P	0.48998	0.918	B	0.32090	0.14	T	0.07829	-1.0752	9	0.13470	T	0.59	-21.5233	15.1575	0.72755	0.0:0.9325:0.0:0.0675	.	85	Q9UNN5	FAF1_HUMAN	Q	85;85;77;85	.	ENSP00000360843:R85Q	R	-	2	0	FAF1	51026373	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.689000	0.61723	1.532000	0.49169	0.655000	0.94253	CGA		0.458	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		15	46	0	0	0	0.539581	0	15	46				
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3112-3114)aCc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							75.0	69.0	71.0					5																	129037257		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037257C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3113C>A	5.37:g.129037257C>A	ENSP00000274487:p.Thr1038Asn					CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.T1038N	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3258	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1038						Missense_Mutation	SNP	ENST00000274487.4	37	c.3113C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046707	0.75846	.	.	ENSG00000145808	ENST00000274487	T	0.18338	2.22	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000006	T	0.18551	0.0445	L	0.38175	1.15	0.58432	D	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.02925	-1.1093	9	.	.	.	.	17.4141	0.87495	0.0:1.0:0.0:0.0	.	1038	Q8TE59	ATS19_HUMAN	N	1038	ENSP00000274487:T1038N	.	T	+	2	0	ADAMTS19	129065156	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.891000	0.69782	2.526000	0.85167	0.650000	0.86243	ACC		0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	85	1	0	2.4624e-09	0.575678	2.93593e-09	14	85				
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(961-963)Gca>Aca		B-cell CLL/lymphoma 6							86.0	101.0	96.0					3																	187447232		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447232C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.961G>A	3.37:g.187447232C>T	ENSP00000384371:p.Ala321Thr					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1327	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		321					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.961G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827834	0.16749	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.19	5.48	5.48	0.80851	.	0.097709	0.64402	D	0.000001	T	0.03871	0.0109	N	0.08118	0	0.33969	D	0.646595	B;B	0.13145	0.005;0.007	B;B	0.12156	0.003;0.007	T	0.38001	-0.9681	10	0.15066	T	0.55	.	7.0909	0.25283	0.1732:0.7373:0.0:0.0895	.	321;321	B8PSA7;P41182	.;BCL6_HUMAN	T	321	ENSP00000384371:A321T;ENSP00000232014:A321T;ENSP00000413122:A321T	ENSP00000232014:A321T	A	-	1	0	BCL6	188929926	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.804000	0.47931	2.747000	0.94245	0.462000	0.41574	GCA		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		8	131	0	0	0	0.307466	0	8	131				
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000392715.2_Silent_p.D425D|EIF5_ENST00000558506.1_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398																																						ENST00000216554.3																			1	Deletion - Frameshift(1)	p.D425fs*>5(1)	pancreas(1)	breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1273-1275)gaC>gaT		eukaryotic translation initiation factor 5							153.0	125.0	135.0					14																	103807368		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103807368C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1275C>T	14.37:g.103807368C>T						EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		12	1951	+		Melanoma(154;0.155)	425			Asp-rich (acidic).		Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.1275C>T	CCDS9980.1																																																																																				0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		6	80	0	0	0	0.278610	0	6	80				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		3	58	0	0	0	0.150653	0	3	58				
DPPA3P2	400206	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:36841171A>G	ENST00000557188.1	+	0	802									developmental pluripotency associated 3 pseudogene 2																		CTATGCTAGTATAGACTATAC	0.323																																						ENST00000557188.1																			0																																																			0							g.chr14:36841171A>G			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841171A>G														0	802	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.323	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			5	19	0	0	0	0.217242	0	5	19				
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2035-2037)tTc>tGc		dehydrogenase E1 and transketolase domain containing 1							206.0	184.0	192.0					10																	12148384		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148384T>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2036T>G	10.37:g.12148384T>G	ENSP00000263035:p.Phe679Cys						p.F679C	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2098	+		Renal(717;0.228)	679					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2036T>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494511	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.92397	-3.03	6.01	6.01	0.97437	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	H	0.96048	3.76	0.80722	D	1	P	0.37731	0.607	P	0.53224	0.721	D	0.97535	1.0082	10	0.87932	D	0	-14.2657	15.1499	0.72689	0.0:0.0:0.0:1.0	.	679	Q96HY7	DHTK1_HUMAN	C	679	ENSP00000263035:F679C	ENSP00000263035:F679C	F	+	2	0	DHTKD1	12188390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.236000	0.78154	2.315000	0.78130	0.519000	0.50382	TTC		0.537	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	196	0	0	0	0.520397	0	13	196				
PCDHB4	56131	broad.mit.edu	37	5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	31					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(91-93)cGt>cAt									107.0	107.0	107.0					5																	140501672		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501672G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.92G>A	5.37:g.140501672G>A	ENSP00000194152:p.Arg31His						p.R31H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	92	+			31					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.92G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358646	0.24598	.	.	ENSG00000081818	ENST00000194152	T	0.31769	1.48	4.66	0.841	0.18918	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	L	0.55743	1.74	0.33212	D	0.553564	B	0.22800	0.075	B	0.27715	0.082	T	0.30794	-0.9966	9	0.44086	T	0.13	.	8.447	0.32847	0.4859:0.0:0.5141:0.0	.	31	Q9Y5E5	PCDB4_HUMAN	H	31	ENSP00000194152:R31H	ENSP00000194152:R31H	R	+	2	0	PCDHB4	140481856	0.000000	0.05858	0.958000	0.39756	0.941000	0.58515	0.059000	0.14322	0.274000	0.22072	0.655000	0.94253	CGT		0.527	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		5	73	0	0	0	0.217242	0	5	73				
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1306-1308)cgT>cgG		CTS telomere maintenance complex component 1							70.0	78.0	75.0					17																	8138502		2047	4184	6231	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138502A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1308T>G	17.37:g.8138502A>C							p.R436R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1315	-			436					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1308T>G	CCDS42259.1																																																																																				0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		14	91	0	0	0	0.539581	0	14	91				
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.6	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(484-486)cCa>cTa		transmembrane protein 192							96.0	98.0	97.0					4																	166009709		2017	4192	6209	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166009709G>A	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.485C>T	4.37:g.166009709G>A	ENSP00000305069:p.Pro162Leu					TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	p.P162L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	4	630	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	162					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.485C>T	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333377	0.60853	.	.	ENSG00000170088	ENST00000306480;ENST00000506087;ENST00000505095	.	.	.	5.43	5.43	0.79202	.	0.118367	0.64402	D	0.000019	T	0.77405	0.4125	M	0.73598	2.24	0.50813	D	0.999894	D	0.67145	0.996	P	0.62089	0.898	T	0.76958	-0.2766	9	0.44086	T	0.13	-38.6905	18.1655	0.89724	0.0:0.0:1.0:0.0	.	162	Q8IY95	TM192_HUMAN	L	162;158;21	.	ENSP00000305069:P162L	P	-	2	0	TMEM192	166229159	1.000000	0.71417	0.926000	0.36857	0.008000	0.06430	5.627000	0.67784	2.708000	0.92522	0.655000	0.94253	CCA		0.453	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		4	27	0	0	0	0.217242	0	4	27				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		3	99	0	0	0	0.115264	0	3	99				
ISLR	3671	broad.mit.edu	37	15	74467874	74467874	+	Silent	SNP	G	G	A	rs554846282		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	ISLR_ENST00000395118.1_Silent_p.P225P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18047	0.001		0.0	False		,,,				2504	0.0					ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(673-675)ccG>ccA		immunoglobulin superfamily containing leucine-rich repeat							32.0	31.0	31.0					15																	74467874		2192	4291	6483	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467874G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.675G>A	15.37:g.74467874G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1032	+			225			LRRCT.			Silent	SNP	ENST00000249842.3	37	c.675G>A	CCDS10260.1																																																																																				0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		7	56	0	0	0	0.307466	0	7	56				
TMEM116	89894	broad.mit.edu	37	12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T	rs371845657		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:112369540C>T	ENST00000550831.3	-	10	991	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000354825.3_Missense_Mutation_p.R208H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(622-624)cGt>cAt		transmembrane protein 116		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137.0	124.0	129.0		794,899,623	3.8	0.9	12		129	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TMEM116	NM_001193453.1,NM_001193531.1,NM_138341.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	265/303,300/338,208/246	112369540	2,13004	2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112369540C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.623G>A	12.37:g.112369540C>T	ENSP00000450377:p.Arg208His					TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	p.R208H			Q8NCL8	TM116_HUMAN			13	1278	-			208					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.623G>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259408	0.80246	0.0	2.33E-4	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.65	3.84	0.44239	.	0.156200	0.41194	N	0.000928	T	0.63815	0.2543	L	0.36672	1.1	0.38764	D	0.954401	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.66196	0.942;0.942;0.942;0.942	T	0.67780	-0.5582	10	0.87932	D	0	-1.8737	11.4483	0.50136	0.0:0.8513:0.0:0.1487	.	114;265;300;208	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	H	265;208;208;208;114;300	ENSP00000347620:R265H;ENSP00000346883:R208H;ENSP00000450377:R208H;ENSP00000395861:R208H;ENSP00000449163:R114H;ENSP00000447731:R300H	ENSP00000346883:R208H	R	-	2	0	TMEM116	110853923	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	2.691000	0.47010	0.767000	0.33267	0.467000	0.42956	CGT		0.493	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		5	100	0	0	0	0.248553	0	5	100				
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	rs376948016		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(469-471)aAc>aTc		selenophosphate synthetase 2							95.0	92.0	93.0					16																	30456579		2098	4226	6324	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456579T>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.470A>T	16.37:g.30456579T>A	ENSP00000418669:p.Asn157Ile					SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I	p.N157I			Q99611	SPS2_HUMAN			1	923	-			157					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.470A>T		.	.	.	.	.	.	.	.	.	.	T	17.46	3.395331	0.62066	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	3.34	0.38264	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.092033	0.64402	N	0.000001	T	0.59865	0.2225	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.97;0.999	D;D	0.79784	0.946;0.993	T	0.63681	-0.6582	10	0.87932	D	0	-10.8222	9.7018	0.40192	0.2767:0.0:0.0:0.7233	.	157;100	Q99611;F5H8F9	SPS2_HUMAN;.	I	157;100;108;157	ENSP00000418669:N157I;ENSP00000443601:N100I;ENSP00000426234:N157I	ENSP00000390233:N108I	N	-	2	0	SEPHS2	30364080	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.909000	0.87444	0.471000	0.27319	-0.333000	0.08304	AAC		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		16	92	0	0	0	0.539581	0	16	92				
TCOF1	6949	broad.mit.edu	37	5	149755039	149755039	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:149755039G>A	ENST00000504761.2	+	11	1626	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000451292.1_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1624-1626)gaG>gaA		Treacher Collins-Franceschetti syndrome 1							51.0	53.0	52.0					5																	149755039		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755039G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1626G>A	5.37:g.149755039G>A						TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000504761.2_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E	p.E542E			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1734	+		all_hematologic(541;0.224)	542					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1626G>A	CCDS54936.1																																																																																				0.662	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	45	0	0	0	0.361761	0	9	45				
KCNH5	27133	broad.mit.edu	37	14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A	rs180894715		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19251	0.0		0.0	False		,,,				2504	0.0					ENST00000322893.7																			1	Substitution - Missense(1)	p.T147M(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(439-441)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 5		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	82.0	78.0	80.0		440,440,266	5.7	1.0	14		80	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense,missense	KCNH5	NM_139318.3,NM_172375.1,NM_172376.1	81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	147/989,147/612,89/625	63453899	2,13002	2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453899G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.440C>T	14.37:g.63453899G>A	ENSP00000321427:p.Thr147Met					KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M	p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	708	-			147					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.440C>T	CCDS9756.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.50	3.405912	0.62288	0.0	2.33E-4	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98937	-5.25;-5.08;-5.08;-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.44542	1.39	0.80722	D	1	P;P;P;D	0.53885	0.892;0.889;0.759;0.963	B;B;B;B	0.43809	0.21;0.27;0.27;0.432	D	0.97467	1.0038	10	0.49607	T	0.09	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	89;89;147;147	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	147;147;89;89	ENSP00000321427:T147M;ENSP00000395439:T147M;ENSP00000378419:T89M;ENSP00000378415:T89M	ENSP00000321427:T147M	T	-	2	0	KCNH5	62523652	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.559000	0.67326	2.697000	0.92050	0.563000	0.77884	ACG		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		12	40	0	0	0	0.435327	0	12	40				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			4	181	0	0	0	0.217242	0	4	181				
TTC37	9652	broad.mit.edu	37	5	94848278	94848278	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2821-2823)ttG>ttA		tetratricopeptide repeat domain 37							186.0	156.0	166.0					5																	94848278		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94848278C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2823G>A	5.37:g.94848278C>T						TTC37_ENST00000515176.1_5'UTR	p.L941L	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			28	3121	-			941					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2823G>A	CCDS4072.1																																																																																				0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		12	84	0	0	0	0.479597	0	12	84				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	110	0	0	0	0.150653	0	4	110				
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1291-1293)cTt>cGt		CTS telomere maintenance complex component 1							68.0	77.0	74.0					17																	8138518		2060	4193	6253	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138518A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1292T>G	17.37:g.8138518A>C	ENSP00000313759:p.Leu431Arg						p.L431R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1299	-			431					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1292T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	a	9.164	1.019478	0.19355	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86097	-2.07;-2.07	5.04	5.04	0.67666	.	0.361669	0.24869	N	0.034954	D	0.88043	0.6331	M	0.63428	1.95	0.09310	N	0.999997	D	0.55385	0.971	P	0.55577	0.779	T	0.82043	-0.0653	10	0.87932	D	0	-3.8521	11.0997	0.48166	1.0:0.0:0.0:0.0	.	431	Q2NKJ3	CTC1_HUMAN	R	431;396	ENSP00000313759:L431R;ENSP00000396018:L396R	ENSP00000313759:L431R	L	-	2	0	CTC1	8079243	0.275000	0.24201	0.037000	0.18230	0.061000	0.15899	3.396000	0.52565	2.124000	0.65301	0.487000	0.48397	CTT		0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		18	93	0	0	0	0.592651	0	18	93				
FAM187B	148109	broad.mit.edu	37	19	35718888	35718888	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(694-696)ctC>ctT		family with sequence similarity 187, member B							79.0	65.0	70.0					19																	35718888		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35718888G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.696C>T	19.37:g.35718888G>A							p.L232L	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	744	-			232					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.696C>T	CCDS12448.1																																																																																				0.502	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		6	21	0	0	0	0.248553	0	6	21				
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000552744.1_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(55-57)gCg>gTg		synaptotagmin I							56.0	56.0	56.0					12																	79611355		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611355C>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.56C>T	12.37:g.79611355C>T	ENSP00000261205:p.Ala19Val					SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			4	713	+			19					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.56C>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903371	0.52333	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.60424	0.2;0.2;0.19;0.2;1.85;2.43	5.51	4.62	0.57501	.	0.303302	0.37095	N	0.002258	T	0.51686	0.1689	L	0.58101	1.795	0.54753	D	0.999986	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.47058	-0.9146	10	0.30078	T	0.28	.	11.4254	0.50007	0.0:0.8545:0.0:0.1455	.	19;19	Q6AI31;P21579	.;SYT1_HUMAN	V	19	ENSP00000376932:A19V;ENSP00000261205:A19V;ENSP00000391056:A19V;ENSP00000447575:A19V;ENSP00000448861:A19V;ENSP00000401559:A19V	ENSP00000261205:A19V	A	+	2	0	SYT1	78135486	0.948000	0.32251	0.059000	0.19551	0.141000	0.21300	4.276000	0.58933	1.321000	0.45227	0.643000	0.83706	GCG		0.527	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		11	62	0	0	0	0.387290	0	11	62				
ABCA13	154664	broad.mit.edu	37	7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A	rs367666935		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522																																						ENST00000435803.1																			2	Substitution - Missense(2)	p.A3359T(1)|p.A3414T(1)	breast(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10240-10242)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13		G	THR/ALA	0,4104		0,0,2052	157.0	157.0	157.0		10240	2.8	0.0	7		157	1,8423		0,1,4211	no	missense	ABCA13	NM_152701.3	58	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	3414/5059	48390275	1,12527	2052	4212	6264	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390275G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10240G>A	7.37:g.48390275G>A	ENSP00000411096:p.Ala3414Thr						p.A3414T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10264	+			3414					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10240G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394446	0.42410	0.0	1.19E-4	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	2.82	0.32997	.	0.313704	0.22699	N	0.056706	T	0.81654	0.4868	L	0.46157	1.445	0.09310	N	1	P;D	0.56968	0.72;0.978	B;P	0.48270	0.079;0.572	T	0.73026	-0.4112	10	0.66056	D	0.02	.	6.8772	0.24153	0.3104:0.0:0.6896:0.0	.	1116;3414	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3414	ENSP00000411096:A3414T	ENSP00000411096:A3414T	A	+	1	0	ABCA13	48360821	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.082000	0.30803	0.371000	0.24564	0.655000	0.94253	GCT		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		19	100	0	0	0	0.592651	0	19	100				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			0							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				3	21	0	0	0	0.115264	0	3	21				
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(73-75)acA>acG		KIAA1614							23.0	27.0	26.0					1																	180885314		1914	4118	6032	SO:0001819	synonymous_variant	57710							g.chr1:180885314A>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.75A>G	1.37:g.180885314A>G							p.T25T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	130	+			25					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.75A>G	CCDS41442.1																																																																																				0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	52	0	0	0	0.435327	0	11	52				
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000293879.4	+	13	1419	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.K473K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1417-1419)aaG>aaA		WD repeat domain 90							38.0	45.0	43.0					16																	703785		1980	4156	6136	SO:0001819	synonymous_variant	197335							g.chr16:703785G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1419G>A	16.37:g.703785G>A						WDR90_ENST00000293879.4_Silent_p.K473K	p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			13	1511	+		Hepatocellular(780;0.0218)	473					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1419G>A	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	77	0	0	0	0.115264	0	3	77				
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4054-4056)Aag>Gag		cadherin, EGF LAG seven-pass G-type receptor 2							100.0	96.0	98.0					1																	109803759		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803759A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4054A>G	1.37:g.109803759A>G	ENSP00000271332:p.Lys1352Glu						p.K1352E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4115	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1352			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4054A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217153	0.58560	.	.	ENSG00000143126	ENST00000271332	D	0.87491	-2.26	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.68778	0.3038	L	0.31664	0.95	0.45477	D	0.99844	P	0.47302	0.893	B	0.39590	0.304	T	0.70099	-0.4965	9	0.24483	T	0.36	.	11.4327	0.50050	0.8384:0.1616:0.0:0.0	.	1352	Q9HCU4	CELR2_HUMAN	E	1352	ENSP00000271332:K1352E	ENSP00000271332:K1352E	K	+	1	0	CELSR2	109605282	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.856000	0.48341	2.007000	0.58848	0.459000	0.35465	AAG		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	130	0	0	0	0.819951	0	34	130				
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602																																						ENST00000244050.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17						c.(475-477)tGc>tTc		snail family zinc finger 1							40.0	41.0	41.0					20																	48600754		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600754G>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.476G>T	20.37:g.48600754G>T	ENSP00000244050:p.Cys159Phe						p.C159F	NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	537	+			159					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.476G>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718233	0.89205	.	.	ENSG00000124216	ENST00000244050	D	0.99974	-10.2	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95682	0.8733	10	0.87932	D	0	-34.5017	17.7592	0.88460	0.0:0.0:1.0:0.0	.	159	O95863	SNAI1_HUMAN	F	159	ENSP00000244050:C159F	ENSP00000244050:C159F	C	+	2	0	SNAI1	48034161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	TGC		0.602	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			3	34	1	0	0.115264	0.115264	0.125375	3	34				
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(757-759)gGt>gAt		thioredoxin-like 1							88.0	85.0	86.0					18																	54278306		2203	4297	6500	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54278306C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.758G>A	18.37:g.54278306C>T	ENSP00000217515:p.Gly253Asp					TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	7	962	-			253			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.758G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945721	0.73672	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.24538	1.85	5.78	5.78	0.91487	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.045533	0.85682	D	0.000000	T	0.42223	0.1193	M	0.83012	2.62	0.80722	D	1	B;B	0.14805	0.01;0.011	B;B	0.31547	0.132;0.091	T	0.31110	-0.9955	10	0.44086	T	0.13	.	19.6075	0.95586	0.0:1.0:0.0:0.0	.	253;253	B2R960;O43396	.;TXNL1_HUMAN	D	253;130	ENSP00000217515:G253D	ENSP00000217515:G253D	G	-	2	0	TXNL1	52429304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.151000	0.77411	2.749000	0.94314	0.655000	0.94253	GGT		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			9	41	0	0	0	0.361761	0	9	41				
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCTCCCGCAACGACTTCATGG	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(757-759)aaC>aaT		protein kinase C, gamma							57.0	45.0	49.0					19																	54395835		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395835C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.759C>T	19.37:g.54395835C>T						PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000540413.1_Silent_p.N253N	p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1041	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		253			C2.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.759C>T	CCDS12867.1																																																																																				0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		8	37	0	0	0	0.361761	0	8	37				
CCM2L	140706	broad.mit.edu	37	20	30617620	30617620	+	Missense_Mutation	SNP	C	C	T	rs78544950	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:30617620C>T	ENST00000300415.8	+	9	1394	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	461																	CTACGGAGACCGGCGCAAGTT	0.647																																						ENST00000300415.8																			0											c.(1381-1383)Cgg>Tgg		cerebral cavernous malformation 2-like							46.0	43.0	44.0					20																	30617620		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30617620C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1381C>T	20.37:g.30617620C>T	ENSP00000300415:p.Arg461Trp					RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR	p.R461W							9	1394	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1381C>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.163315	0.57476	.	.	ENSG00000101331	ENST00000300415;ENST00000452892	T;T	0.37584	1.19;1.19	5.65	3.56	0.40772	.	0.570763	0.17797	N	0.161699	T	0.34019	0.0883	.	.	.	0.27044	N	0.963933	D	0.60160	0.987	B	0.42882	0.401	T	0.26292	-1.0107	9	0.72032	D	0.01	-23.6914	13.4301	0.61051	0.3949:0.6051:0.0:0.0	.	461	Q9NUG4	CT160_HUMAN	W	461;214	ENSP00000300415:R461W;ENSP00000392448:R214W	ENSP00000300415:R461W	R	+	1	2	C20orf160	30081281	0.998000	0.40836	0.997000	0.53966	0.958000	0.62258	2.860000	0.48372	1.357000	0.45904	-0.311000	0.09066	CGG		0.647	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		26	74	0	0	0	0.740014	0	26	74				
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CGCCAACATCATCTGCTCCAT	0.498																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(535-537)Atc>Gtc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						110.0	95.0	100.0					19																	41512860		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512860A>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.535A>G	19.37:g.41512860A>G	ENSP00000324648:p.Ile179Val					CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR	p.I179V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	542	+			179					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.535A>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.386107	0.42308	.	.	ENSG00000197408	ENST00000324071	T	0.73047	-0.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.82923	2.615	0.80722	D	1	B	0.28801	0.223	B	0.31547	0.132	T	0.75997	-0.3120	10	0.72032	D	0.01	.	11.8072	0.52163	1.0:0.0:0.0:0.0	.	179	P20813	CP2B6_HUMAN	V	179	ENSP00000324648:I179V	ENSP00000324648:I179V	I	+	1	0	CYP2B6	46204700	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.725000	0.74752	1.901000	0.55032	0.348000	0.21847	ATC		0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		3	42	0	0	0	0.115264	0	3	42				
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1693-1695)Cag>Aag		transcription factor 20 (AR1)							61.0	57.0	58.0					22																	42609619		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609619G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1693C>A	22.37:g.42609619G>T	ENSP00000352463:p.Gln565Lys					TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1829	-			565					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1693C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.12;0.12	6.17	6.17	0.99709	.	0.172756	0.41500	D	0.000875	T	0.57359	0.2048	N	0.19112	0.55	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.49153	-0.8969	10	0.06494	T	0.89	-12.6915	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	565;565	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	565	ENSP00000352463:Q565K;ENSP00000335561:Q565K	ENSP00000335561:Q565K	Q	-	1	0	TCF20	40939563	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.765000	0.68834	2.941000	0.99782	0.655000	0.94253	CAG		0.582	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	66	1	0	0.150653	0.150653	0.161043	4	66				
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(790-792)cCa>cTa		FAT atypical cadherin 3							176.0	169.0	171.0					11																	92086069		2026	4186	6212	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086069C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.791C>T	11.37:g.92086069C>T	ENSP00000298047:p.Pro264Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L	p.P264L			Q8TDW7	FAT3_HUMAN			1	808	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	264			Cadherin 2.|Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	C	17.35	3.366856	0.61513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.09	5.09	0.68999	.	.	.	.	.	D	0.96380	0.8819	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97996	1.0357	9	0.72032	D	0.01	.	17.8503	0.88744	0.0:1.0:0.0:0.0	.	264	Q8TDW7-3	.	L	264;264;264;114	ENSP00000298047:P264L;ENSP00000387040:P264L;ENSP00000443786:P264L;ENSP00000432586:P114L	ENSP00000298047:P264L	P	+	2	0	FAT3	91725717	1.000000	0.71417	0.257000	0.24404	0.584000	0.36387	7.752000	0.85141	2.509000	0.84616	0.557000	0.71058	CCA		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	109	0	0	0	0.592651	0	18	109				
CARD10	29775	broad.mit.edu	37	22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657																																						ENST00000403299.1																			1	Substitution - Missense(1)	p.R838W(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2512-2514)Cgg>Tgg		caspase recruitment domain family, member 10							28.0	28.0	28.0					22																	37888774		2202	4300	6502	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888774G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2512C>T	22.37:g.37888774G>A	ENSP00000384570:p.Arg838Trp					CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W	p.R838W			Q9BWT7	CAR10_HUMAN			18	2728	-	Melanoma(58;0.0574)		838					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2512C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310674	0.60414	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.44482	0.92;2.62;0.92;1.24	4.84	2.65	0.31530	.	0.263418	0.32884	N	0.005536	T	0.55784	0.1942	L	0.53249	1.67	0.31308	N	0.687487	D;D	0.89917	0.996;1.0	P;D	0.75020	0.727;0.985	T	0.61821	-0.6984	10	0.87932	D	0	-25.2973	11.2183	0.48840	0.0:0.0:0.6667:0.3333	.	838;552	Q9BWT7;Q8NC81	CAR10_HUMAN;.	W	838;552;838;479	ENSP00000384570:R838W;ENSP00000385799:R552W;ENSP00000251973:R838W;ENSP00000416239:R479W	ENSP00000251973:R838W	R	-	1	2	CARD10	36218720	0.997000	0.39634	1.000000	0.80357	0.376000	0.30014	2.646000	0.46630	0.588000	0.29660	-0.314000	0.08810	CGG		0.657	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		3	49	0	0	0	0.115264	0	3	49				
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T	rs376593773		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000247087.5	-	5	4409	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000374011.2_Silent_p.P1271P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3811-3813)ccG>ccA		AT hook, DNA binding motif, containing 1		C		1,4403		0,1,2201	40.0	51.0	48.0		3813	-9.8	0.8	1		48	1,8591		0,1,4295	no	coding-synonymous	AHDC1	NM_001029882.2		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		1271/1604	27874814	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874814C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3813G>A	1.37:g.27874814C>T						AHDC1_ENST00000247087.5_Silent_p.P1271P|AHDC1_ENST00000482400.2_Intron	p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4781	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1271					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3813G>A	CCDS30652.1																																																																																				0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			29	105	0	0	0	0.769981	0	29	105				
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1138-1140)cCt>cTt		T-box 20							79.0	80.0	80.0					7																	35242247		1990	4164	6154	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242247G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1139C>T	7.37:g.35242247G>A	ENSP00000386170:p.Pro380Leu						p.P380L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1665	-			380					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1139C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775571	0.90195	.	.	ENSG00000164532	ENST00000408931	D	0.88046	-2.33	5.46	5.46	0.80206	.	0.055617	0.64402	D	0.000001	T	0.81650	0.4867	L	0.27053	0.805	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.77403	-0.2601	10	0.34782	T	0.22	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	380	Q9UMR3	TBX20_HUMAN	L	380	ENSP00000386170:P380L	ENSP00000386170:P380L	P	-	2	0	TBX20	35208772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.548000	0.85928	0.609000	0.83330	CCT		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		7	66	0	0	0	0.307466	0	7	66				
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.V963V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3286-3288)gtG>gtT		SH3 and PX domains 2A							112.0	117.0	115.0					10																	105361687		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361687C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3288G>T	10.37:g.105361687C>A						SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.V963V	p.V1096V			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3564	-		Colorectal(252;0.0815)|Breast(234;0.131)	1096			SH3 5.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3288G>T		.	.	.	.	.	.	.	.	.	.	C	3.174	-0.169338	0.06461	.	.	ENSG00000107957	ENST00000420222	T	0.29655	1.56	5.39	3.55	0.40652	.	0.116207	0.64402	D	0.000015	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.52906	T	0.07	-18.6284	2.9755	0.05936	0.1242:0.5384:0.1763:0.1611	.	.	.	.	F	1023	ENSP00000395781:V1023F	ENSP00000395781:V1023F	V	-	1	0	SH3PXD2A	105351677	0.393000	0.25237	1.000000	0.80357	0.921000	0.55340	-0.347000	0.07750	0.660000	0.30964	-0.258000	0.10820	GTC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	105	1	0	1.96895e-08	0.639603	2.3033e-08	22	105				
SULF2	55959	broad.mit.edu	37	20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15904	0.001		0.0	False		,,,				2504	0.0					ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1477-1479)Gtg>Atg		sulfatase 2			MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		1477,1477,1477	4.5	1.0	20	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	21,21,21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	493/871,493/871,493/868	46301041	3,13003	2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46301041C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1477G>A	20.37:g.46301041C>T	ENSP00000353007:p.Val493Met					SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			11	2328	-			493					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1477G>A	CCDS13408.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.25	1.881683	0.33255	2.27E-4	2.33E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.42	4.46	0.54185	Alkaline-phosphatase-like, core domain (1);	0.481359	0.23395	N	0.048644	D	0.93867	0.8038	N	0.03115	-0.41	0.23563	N	0.997408	B;B	0.20459	0.016;0.045	B;B	0.15870	0.009;0.014	D	0.86428	0.1759	10	0.34782	T	0.22	-9.0405	6.3516	0.21379	0.0:0.6835:0.1542:0.1623	.	493;493	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	M	493	ENSP00000353007:V493M;ENSP00000418290:V493M;ENSP00000354662:V493M;ENSP00000418442:V493M	ENSP00000353007:V493M	V	-	1	0	SULF2	45734448	0.089000	0.21612	1.000000	0.80357	0.889000	0.51656	0.170000	0.16663	2.537000	0.85549	0.552000	0.68991	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		28	80	0	0	0	0.769981	0	28	80				
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(529-531)aaT>aaA		protease, serine, 58							179.0	162.0	168.0					7																	141952337		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952337A>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.531T>A	7.37:g.141952337A>T	ENSP00000446916:p.Asn177Lys					PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K	p.N177K			Q8IYP2	PRS58_HUMAN			4	850	-			177			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.531T>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384552	0.61845	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82167	-1.58;-1.58	4.35	-8.0	0.01126	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81659	0.4869	L	0.55481	1.735	0.20307	N	0.999911	D	0.60575	0.988	P	0.56088	0.791	T	0.77563	-0.2541	9	0.59425	D	0.04	.	7.4421	0.27190	0.6054:0.2321:0.1625:0.0	.	177	Q8IYP2	PRS58_HUMAN	K	177	ENSP00000447588:N177K;ENSP00000446916:N177K	ENSP00000307206:N177K	N	-	3	2	PRSS58	141598815	0.005000	0.15991	0.000000	0.03702	0.120000	0.20174	-0.172000	0.09868	-1.768000	0.01298	-0.408000	0.06270	AAT		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	148	0	0	0	0.307466	0	7	148				
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002					ENST00000463781.3																			2	Substitution - Missense(2)	p.A1006T(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3016-3018)Gcc>Acc		mucin 4, cell surface associated							71.0	43.0	51.0					3																	195515435		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515435C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr					MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3475	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1008			Repeat.|Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3016G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	8	0	0	0	0.115264	0	3	8				
PCDH9	5101	broad.mit.edu	37	13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:67801779G>A	ENST00000377865.2	-	1	928	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A265V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V			Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(793-795)gCt>gTt		protocadherin 9							119.0	109.0	112.0					13																	67801779		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801779G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.794C>T	13.37:g.67801779G>A	ENSP00000367096:p.Ala265Val					PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V	p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1485	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	265			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.794C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701842	0.68501	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.048166	0.85682	D	0.000000	T	0.63058	0.2479	L	0.33753	1.03	0.80722	D	1	P;D;D;D	0.62365	0.956;0.984;0.98;0.991	P;P;P;D	0.63597	0.818;0.868;0.863;0.916	T	0.54262	-0.8320	10	0.30078	T	0.28	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	265;265;265;265	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	265	ENSP00000442186:A265V;ENSP00000367096:A265V;ENSP00000401699:A265V;ENSP00000332060:A265V;ENSP00000367092:A265V	ENSP00000332060:A265V	A	-	2	0	PCDH9	66699780	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	81	0	0	0	0.500413	0	13	81				
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).		G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(7-9)Cga>Tga		gastrin							283.0	279.0	280.0					17																	39871695		2203	4300	6503	SO:0001587	stop_gained	2520					extracellular region	hormone activity	g.chr17:39871695C>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.7C>T	17.37:g.39871695C>T	ENSP00000331358:p.Arg3*					JUP_ENST00000540235.1_Intron	p.R3*	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	74	+		Breast(137;0.000307)	3		R -> P (in dbSNP:rs34309618).			P78463|P78464	Nonsense_Mutation	SNP	ENST00000329402.3	37	c.7C>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984941	0.53934	.	.	ENSG00000184502	ENST00000329402	.	.	.	4.41	2.22	0.28083	.	0.933817	0.08817	N	0.889406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9714	9.2442	0.37515	0.389:0.611:0.0:0.0	.	.	.	.	X	3	.	ENSP00000331358:R3X	R	+	1	2	GAST	37125221	0.001000	0.12720	0.005000	0.12908	0.161000	0.22273	0.676000	0.25247	1.025000	0.39708	0.655000	0.94253	CGA		0.592	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			42	342	0	0	0	0.870114	0	42	342				
NT5C2	22978	broad.mit.edu	37	10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:104849590G>A	ENST00000404739.3	-	17	1548	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000343289.5_Missense_Mutation_p.R509C|CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(1525-1527)Cgc>Tgc		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						146.0	122.0	130.0					10																	104849590		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849590G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1525C>T	10.37:g.104849590G>A	ENSP00000383960:p.Arg509Cys					NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C	p.R509C	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	18	1612	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	509					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.1525C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643011	0.67244	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468	T;T;T	0.24908	2.14;2.14;1.83	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.993	B;B;B	0.44315	0.446;0.446;0.446	T	0.00807	-1.1558	10	0.44086	T	0.13	-1.8622	15.4518	0.75279	0.0:0.0:0.8613:0.1387	.	480;356;509	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	C	509;509;480	ENSP00000339479:R509C;ENSP00000383960:R509C;ENSP00000392236:R480C	ENSP00000339479:R509C	R	-	1	0	NT5C2	104839580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.871000	0.87180	2.906000	0.99361	0.655000	0.94253	CGC		0.507	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	73	0	0	0	0.248553	0	5	73				
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000353533.5	+	9	1025	c.962T>A	c.(961-963)gTg>gAg	p.V321E	MAP2K4_ENST00000415385.3_Missense_Mutation_p.V332E	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(994-996)gTg>gAg		mitogen-activated protein kinase kinase 4							96.0	88.0	91.0					17																	12032526		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032526T>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.962T>A	17.37:g.12032526T>A	ENSP00000262445:p.Val321Glu					MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	p.V332E			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1048	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	321			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.995T>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820585	0.90873	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.954;0.993;0.994	T	0.76487	-0.2941	10	0.87932	D	0	.	14.2917	0.66284	0.0:0.0:0.0:1.0	.	193;332;321	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	E	321;332;298;193	ENSP00000262445:V321E;ENSP00000410402:V332E	ENSP00000262445:V321E	V	+	2	0	MAP2K4	11973251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.263000	0.75096	0.533000	0.62120	GTG		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			14	62	0	0	0	0.457914	0	14	62				
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1093-1095)Tcg>Gcg		tripartite motif containing 31							128.0	137.0	134.0					6																	30071498		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071498A>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1093T>G	6.37:g.30071498A>C	ENSP00000365924:p.Ser365Ala					TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			9	1218	-			365					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1093T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	6.172	0.399963	0.11696	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.66815	-0.23;-0.23	2.25	-2.05	0.07321	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.35607	0.206	T	0.22138	-1.0225	9	0.18276	T	0.48	.	2.1743	0.03858	0.4426:0.0:0.317:0.2403	.	365	Q9BZY9	TRI31_HUMAN	A	365	ENSP00000365924:S365A;ENSP00000444311:S365A	ENSP00000365918:S365A	S	-	1	0	TRIM31	30179477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.148000	0.16224	-0.480000	0.06803	0.472000	0.43445	TCG		0.527	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			14	139	0	0	0	0.539581	0	14	139				
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000358528.4	-	18	2602	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000483407.1_5'Flank|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000438362.2_Missense_Mutation_p.R772C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2314-2316)Cgc>Tgc		cold shock domain containing E1, RNA-binding							146.0	146.0	146.0					1																	115262240		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115262240G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2176C>T	1.37:g.115262240G>A	ENSP00000351329:p.Arg726Cys					CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	p.R772C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2692	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	726					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.2314C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933538	0.73442	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	5.26	0.73747	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.092767	0.85682	D	0.000000	T	0.62319	0.2418	M	0.87328	2.875	0.80722	D	1	B;B;B	0.18863	0.031;0.003;0.003	B;B;B	0.12837	0.008;0.005;0.003	T	0.68150	-0.5485	9	0.87932	D	0	-1.1453	15.7894	0.78343	0.065:0.0:0.935:0.0	.	741;726;772	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	C	695;772;726;695;596;741;726	.	ENSP00000261443:R695C	R	-	1	0	CSDE1	115063763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	1.626000	0.50381	0.655000	0.94253	CGC		0.453	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		7	101	0	0	0	0.307466	0	7	101				
PCDHA6	56142	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(337-339)Ccg>Acg									112.0	123.0	120.0					5																	140208013		2203	4298	6501	SO:0001583	missense	0							g.chr5:140208013C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.337C>A	5.37:g.140208013C>A	ENSP00000433378:p.Pro113Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.P113T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	451	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.337C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028464	0.75390	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.56103	0.58;0.48	3.87	3.87	0.44632	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002518	T	0.78923	0.4360	M	0.93939	3.475	0.43793	D	0.996339	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.80764	0.994;0.993;0.955	D	0.85512	0.1198	10	0.62326	D	0.03	.	16.3488	0.83191	0.0:1.0:0.0:0.0	.	113;113;113	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	113	ENSP00000433378:P113T;ENSP00000434113:P113T	ENSP00000434113:P113T	P	+	1	0	PCDHA6	140188197	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	4.743000	0.62110	2.139000	0.66308	0.313000	0.20887	CCG		0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		22	218	1	0	1.17739e-12	0.693898	1.42646e-12	22	218				
ELP2	55250	broad.mit.edu	37	18	33739979	33739979	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.e16+1		elongator acetyltransferase complex subunit 2							81.0	80.0	81.0					18																	33739979		2203	4300	6503	SO:0001630	splice_region_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33739979G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1688+1G>T	18.37:g.33739979G>T						ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000442325.2_Splice_Site		NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			16	1751	+								A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Splice_Site	SNP	ENST00000358232.6	37		CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315005	0.81358	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2061	0.86918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP2	31993977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.318000	0.96334	2.745000	0.94114	0.484000	0.47621	.		0.383	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	Intron	5	55	1	0	0.307466	0.307466	0.322839	5	55				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	43	0	0	0	0.115264	0	3	43				
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4513-4515)gaC>gaA		FRAS1 related extracellular matrix protein 2							118.0	109.0	112.0					13																	39265996		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265996C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4515C>A	13.37:g.39265996C>A	ENSP00000280481:p.Asp1505Glu						p.D1505E	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4731	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1505					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4515C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255388	0.59321	.	.	ENSG00000150893	ENST00000280481	T	0.50001	0.76	6.07	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.96489	3.83	0.58432	D	0.999999	D	0.65815	0.995	D	0.64410	0.925	T	0.82468	-0.0442	10	0.62326	D	0.03	.	13.9506	0.64113	0.0:0.8775:0.0:0.1225	.	1505	Q5SZK8	FREM2_HUMAN	E	1505	ENSP00000280481:D1505E	ENSP00000280481:D1505E	D	+	3	2	FREM2	38163996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.688000	0.37690	2.890000	0.99128	0.650000	0.86243	GAC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	111	1	0	0.014758	0.184627	0.0163115	4	111				
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGTGTCCCGCTGCGGCTGCGG	0.726																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(205-207)cTg>cAg		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						16.0	21.0	19.0					5																	131630515		2198	4286	6484	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630515T>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.206T>A	5.37:g.131630515T>A	ENSP00000200652:p.Leu69Gln					P4HA2_ENST00000471826.1_Intron	p.L69Q	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	380	+		all_cancers(142;0.0752)|Breast(839;0.198)	69					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.206T>A	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240128	0.39598	.	.	ENSG00000197208	ENST00000200652	T	0.75938	-0.98	4.54	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.770532	0.11770	N	0.531169	T	0.70692	0.3253	M	0.69463	2.115	0.22762	N	0.998766	B	0.22683	0.073	B	0.22601	0.04	T	0.57768	-0.7754	10	0.27785	T	0.31	.	10.1861	0.42998	0.0:0.0:0.1672:0.8328	.	69	Q9H015	S22A4_HUMAN	Q	69	ENSP00000200652:L69Q	ENSP00000200652:L69Q	L	+	2	0	SLC22A4	131658414	0.006000	0.16342	0.812000	0.32479	0.976000	0.68499	0.009000	0.13219	0.831000	0.34780	0.459000	0.35465	CTG		0.726	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	15	0	0	0	0.361761	0	8	15				
NT5C2	22978	broad.mit.edu	37	10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:104849590G>A	ENST00000404739.3	-	17	1548	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000343289.5_Missense_Mutation_p.R509C|CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(1525-1527)Cgc>Tgc		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						146.0	122.0	130.0					10																	104849590		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849590G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1525C>T	10.37:g.104849590G>A	ENSP00000383960:p.Arg509Cys					NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C|NT5C2_ENST00000369857.4_5'UTR	p.R509C	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	18	1612	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	509					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.1525C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643011	0.67244	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468	T;T;T	0.24908	2.14;2.14;1.83	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.993	B;B;B	0.44315	0.446;0.446;0.446	T	0.00807	-1.1558	10	0.44086	T	0.13	-1.8622	15.4518	0.75279	0.0:0.0:0.8613:0.1387	.	480;356;509	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	C	509;509;480	ENSP00000339479:R509C;ENSP00000383960:R509C;ENSP00000392236:R480C	ENSP00000339479:R509C	R	-	1	0	NT5C2	104839580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.871000	0.87180	2.906000	0.99361	0.655000	0.94253	CGC		0.507	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	73	0	0	0	0.248553	0	5	73				
FAF1	11124	broad.mit.edu	37	1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T	rs370452298		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458																																						ENST00000396153.2																			3	Whole gene deletion(3)	p.0?(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(253-255)cGa>cAa		Fas (TNFRSF6) associated factor 1							111.0	98.0	103.0					1																	51253785		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51253785C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.254G>A	1.37:g.51253785C>T	ENSP00000379457:p.Arg85Gln					FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	4	705	-			85					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.254G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049354	0.55218	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.96	5.05	0.67936	.	0.059993	0.64402	D	0.000001	T	0.26448	0.0646	N	0.19112	0.55	0.80722	D	1	P	0.48998	0.918	B	0.32090	0.14	T	0.07829	-1.0752	9	0.13470	T	0.59	-21.5233	15.1575	0.72755	0.0:0.9325:0.0:0.0675	.	85	Q9UNN5	FAF1_HUMAN	Q	85;85;77;85	.	ENSP00000360843:R85Q	R	-	2	0	FAF1	51026373	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.689000	0.61723	1.532000	0.49169	0.655000	0.94253	CGA		0.458	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		15	46	0	0	0	0.539581	0	15	46				
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3112-3114)aCc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							75.0	69.0	71.0					5																	129037257		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037257C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3113C>A	5.37:g.129037257C>A	ENSP00000274487:p.Thr1038Asn					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.T1038N	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3258	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1038						Missense_Mutation	SNP	ENST00000274487.4	37	c.3113C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046707	0.75846	.	.	ENSG00000145808	ENST00000274487	T	0.18338	2.22	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000006	T	0.18551	0.0445	L	0.38175	1.15	0.58432	D	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.02925	-1.1093	9	.	.	.	.	17.4141	0.87495	0.0:1.0:0.0:0.0	.	1038	Q8TE59	ATS19_HUMAN	N	1038	ENSP00000274487:T1038N	.	T	+	2	0	ADAMTS19	129065156	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.891000	0.69782	2.526000	0.85167	0.650000	0.86243	ACC		0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	85	1	0	2.4624e-09	0.575678	2.927e-09	14	85				
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(961-963)Gca>Aca		B-cell CLL/lymphoma 6							86.0	101.0	96.0					3																	187447232		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447232C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.961G>A	3.37:g.187447232C>T	ENSP00000384371:p.Ala321Thr					RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1327	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		321					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.961G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827834	0.16749	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.19	5.48	5.48	0.80851	.	0.097709	0.64402	D	0.000001	T	0.03871	0.0109	N	0.08118	0	0.33969	D	0.646595	B;B	0.13145	0.005;0.007	B;B	0.12156	0.003;0.007	T	0.38001	-0.9681	10	0.15066	T	0.55	.	7.0909	0.25283	0.1732:0.7373:0.0:0.0895	.	321;321	B8PSA7;P41182	.;BCL6_HUMAN	T	321	ENSP00000384371:A321T;ENSP00000232014:A321T;ENSP00000413122:A321T	ENSP00000232014:A321T	A	-	1	0	BCL6	188929926	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.804000	0.47931	2.747000	0.94245	0.462000	0.41574	GCA		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		8	131	0	0	0	0.307466	0	8	131				
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000392715.2_Silent_p.D425D|EIF5_ENST00000558506.1_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398																																						ENST00000216554.3																			1	Deletion - Frameshift(1)	p.D425fs*>5(1)	pancreas(1)	breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1273-1275)gaC>gaT		eukaryotic translation initiation factor 5							153.0	125.0	135.0					14																	103807368		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103807368C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1275C>T	14.37:g.103807368C>T						EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		12	1951	+		Melanoma(154;0.155)	425			Asp-rich (acidic).		Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.1275C>T	CCDS9980.1																																																																																				0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		6	80	0	0	0	0.278610	0	6	80				
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2035-2037)tTc>tGc		dehydrogenase E1 and transketolase domain containing 1							206.0	184.0	192.0					10																	12148384		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148384T>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2036T>G	10.37:g.12148384T>G	ENSP00000263035:p.Phe679Cys						p.F679C	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2098	+		Renal(717;0.228)	679					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2036T>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494511	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.92397	-3.03	6.01	6.01	0.97437	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	H	0.96048	3.76	0.80722	D	1	P	0.37731	0.607	P	0.53224	0.721	D	0.97535	1.0082	10	0.87932	D	0	-14.2657	15.1499	0.72689	0.0:0.0:0.0:1.0	.	679	Q96HY7	DHTK1_HUMAN	C	679	ENSP00000263035:F679C	ENSP00000263035:F679C	F	+	2	0	DHTKD1	12188390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.236000	0.78154	2.315000	0.78130	0.519000	0.50382	TTC		0.537	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	196	0	0	0	0.520397	0	13	196				
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(790-792)cCa>cTa		FAT atypical cadherin 3							176.0	169.0	171.0					11																	92086069		2026	4186	6212	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086069C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.791C>T	11.37:g.92086069C>T	ENSP00000298047:p.Pro264Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L	p.P264L			Q8TDW7	FAT3_HUMAN			1	808	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	264			Cadherin 2.|Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	C	17.35	3.366856	0.61513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.09	5.09	0.68999	.	.	.	.	.	D	0.96380	0.8819	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97996	1.0357	9	0.72032	D	0.01	.	17.8503	0.88744	0.0:1.0:0.0:0.0	.	264	Q8TDW7-3	.	L	264;264;264;114	ENSP00000298047:P264L;ENSP00000387040:P264L;ENSP00000443786:P264L;ENSP00000432586:P114L	ENSP00000298047:P264L	P	+	2	0	FAT3	91725717	1.000000	0.71417	0.257000	0.24404	0.584000	0.36387	7.752000	0.85141	2.509000	0.84616	0.557000	0.71058	CCA		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	109	0	0	0	0.592651	0	18	109				
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(1306-1308)gcG>gcT		mitogen-activated protein kinase kinase kinase 5							146.0	153.0	151.0					6																	136990479		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990479C>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1308G>T	6.37:g.136990479C>A							p.A436A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1668	-	Colorectal(23;0.24)		436					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1308G>T	CCDS5179.1																																																																																				0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			28	109	1	0	2.47511e-08	0.729181	2.83512e-08	28	109				
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1306-1308)cgT>cgG		CTS telomere maintenance complex component 1							70.0	78.0	75.0					17																	8138502		2047	4184	6231	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138502A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1308T>G	17.37:g.8138502A>C							p.R436R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1315	-			436					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1308T>G	CCDS42259.1																																																																																				0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		14	91	0	0	0	0.539581	0	14	91				
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr4:166009709G>A	ENST00000306480.6	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(484-486)cCa>cTa		transmembrane protein 192							96.0	98.0	97.0					4																	166009709		2017	4192	6209	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166009709G>A	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.485C>T	4.37:g.166009709G>A	ENSP00000305069:p.Pro162Leu					TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	p.P162L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	4	630	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	162					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.485C>T	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333377	0.60853	.	.	ENSG00000170088	ENST00000306480;ENST00000506087;ENST00000505095	.	.	.	5.43	5.43	0.79202	.	0.118367	0.64402	D	0.000019	T	0.77405	0.4125	M	0.73598	2.24	0.50813	D	0.999894	D	0.67145	0.996	P	0.62089	0.898	T	0.76958	-0.2766	9	0.44086	T	0.13	-38.6905	18.1655	0.89724	0.0:0.0:1.0:0.0	.	162	Q8IY95	TM192_HUMAN	L	162;158;21	.	ENSP00000305069:P162L	P	-	2	0	TMEM192	166229159	1.000000	0.71417	0.926000	0.36857	0.008000	0.06430	5.627000	0.67784	2.708000	0.92522	0.655000	0.94253	CCA		0.453	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		4	27	0	0	0	0.217242	0	4	27				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		3	99	0	0	0	0.115264	0	3	99				
ISLR	3671	broad.mit.edu	37	15	74467874	74467874	+	Silent	SNP	G	G	A	rs554846282		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	ISLR_ENST00000395118.1_Silent_p.P225P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18047	0.001		0.0	False		,,,				2504	0.0					ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(673-675)ccG>ccA		immunoglobulin superfamily containing leucine-rich repeat							32.0	31.0	31.0					15																	74467874		2192	4291	6483	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467874G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.675G>A	15.37:g.74467874G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1032	+			225			LRRCT.			Silent	SNP	ENST00000249842.3	37	c.675G>A	CCDS10260.1																																																																																				0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		7	56	0	0	0	0.307466	0	7	56				
TMEM116	89894	broad.mit.edu	37	12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T	rs371845657		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr12:112369540C>T	ENST00000550831.3	-	10	991	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000354825.3_Missense_Mutation_p.R208H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(622-624)cGt>cAt		transmembrane protein 116		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137.0	124.0	129.0		794,899,623	3.8	0.9	12		129	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TMEM116	NM_001193453.1,NM_001193531.1,NM_138341.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	265/303,300/338,208/246	112369540	2,13004	2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112369540C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.623G>A	12.37:g.112369540C>T	ENSP00000450377:p.Arg208His					TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	p.R208H			Q8NCL8	TM116_HUMAN			13	1278	-			208					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.623G>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259408	0.80246	0.0	2.33E-4	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.65	3.84	0.44239	.	0.156200	0.41194	N	0.000928	T	0.63815	0.2543	L	0.36672	1.1	0.38764	D	0.954401	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.66196	0.942;0.942;0.942;0.942	T	0.67780	-0.5582	10	0.87932	D	0	-1.8737	11.4483	0.50136	0.0:0.8513:0.0:0.1487	.	114;265;300;208	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	H	265;208;208;208;114;300	ENSP00000347620:R265H;ENSP00000346883:R208H;ENSP00000450377:R208H;ENSP00000395861:R208H;ENSP00000449163:R114H;ENSP00000447731:R300H	ENSP00000346883:R208H	R	-	2	0	TMEM116	110853923	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	2.691000	0.47010	0.767000	0.33267	0.467000	0.42956	CGT		0.493	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		5	100	0	0	0	0.248553	0	5	100				
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	rs376948016		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(469-471)aAc>aTc		selenophosphate synthetase 2							95.0	92.0	93.0					16																	30456579		2098	4226	6324	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456579T>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.470A>T	16.37:g.30456579T>A	ENSP00000418669:p.Asn157Ile					SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I	p.N157I			Q99611	SPS2_HUMAN			1	923	-			157					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.470A>T		.	.	.	.	.	.	.	.	.	.	T	17.46	3.395331	0.62066	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	3.34	0.38264	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.092033	0.64402	N	0.000001	T	0.59865	0.2225	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.97;0.999	D;D	0.79784	0.946;0.993	T	0.63681	-0.6582	10	0.87932	D	0	-10.8222	9.7018	0.40192	0.2767:0.0:0.0:0.7233	.	157;100	Q99611;F5H8F9	SPS2_HUMAN;.	I	157;100;108;157	ENSP00000418669:N157I;ENSP00000443601:N100I;ENSP00000426234:N157I	ENSP00000390233:N108I	N	-	2	0	SEPHS2	30364080	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.909000	0.87444	0.471000	0.27319	-0.333000	0.08304	AAC		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		16	92	0	0	0	0.539581	0	16	92				
TCOF1	6949	broad.mit.edu	37	5	149755039	149755039	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:149755039G>A	ENST00000504761.2	+	11	1626	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000451292.1_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1624-1626)gaG>gaA		Treacher Collins-Franceschetti syndrome 1							51.0	53.0	52.0					5																	149755039		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755039G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1626G>A	5.37:g.149755039G>A						TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E|TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000504761.2_Silent_p.E542E	p.E542E			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1734	+		all_hematologic(541;0.224)	542					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1626G>A	CCDS54936.1																																																																																				0.662	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	45	0	0	0	0.361761	0	9	45				
KCNH5	27133	broad.mit.edu	37	14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A	rs180894715		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19251	0.0		0.0	False		,,,				2504	0.0					ENST00000322893.7																			1	Substitution - Missense(1)	p.T147M(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(439-441)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 5		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	82.0	78.0	80.0		440,440,266	5.7	1.0	14		80	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense,missense	KCNH5	NM_139318.3,NM_172375.1,NM_172376.1	81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	147/989,147/612,89/625	63453899	2,13002	2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453899G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.440C>T	14.37:g.63453899G>A	ENSP00000321427:p.Thr147Met					KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M	p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	708	-			147					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.440C>T	CCDS9756.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.50	3.405912	0.62288	0.0	2.33E-4	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98937	-5.25;-5.08;-5.08;-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.44542	1.39	0.80722	D	1	P;P;P;D	0.53885	0.892;0.889;0.759;0.963	B;B;B;B	0.43809	0.21;0.27;0.27;0.432	D	0.97467	1.0038	10	0.49607	T	0.09	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	89;89;147;147	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	147;147;89;89	ENSP00000321427:T147M;ENSP00000395439:T147M;ENSP00000378419:T89M;ENSP00000378415:T89M	ENSP00000321427:T147M	T	-	2	0	KCNH5	62523652	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.559000	0.67326	2.697000	0.92050	0.563000	0.77884	ACG		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		12	40	0	0	0	0.435327	0	12	40				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	84	0	0	0	0.184627	0	3	84				
TTC37	9652	broad.mit.edu	37	5	94848278	94848278	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2821-2823)ttG>ttA		tetratricopeptide repeat domain 37							186.0	156.0	166.0					5																	94848278		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94848278C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2823G>A	5.37:g.94848278C>T						TTC37_ENST00000515176.1_5'UTR	p.L941L	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			28	3121	-			941					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2823G>A	CCDS4072.1																																																																																				0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		12	84	0	0	0	0.479597	0	12	84				
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1291-1293)cTt>cGt		CTS telomere maintenance complex component 1							68.0	77.0	74.0					17																	8138518		2060	4193	6253	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138518A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1292T>G	17.37:g.8138518A>C	ENSP00000313759:p.Leu431Arg						p.L431R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1299	-			431					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1292T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	a	9.164	1.019478	0.19355	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86097	-2.07;-2.07	5.04	5.04	0.67666	.	0.361669	0.24869	N	0.034954	D	0.88043	0.6331	M	0.63428	1.95	0.09310	N	0.999997	D	0.55385	0.971	P	0.55577	0.779	T	0.82043	-0.0653	10	0.87932	D	0	-3.8521	11.0997	0.48166	1.0:0.0:0.0:0.0	.	431	Q2NKJ3	CTC1_HUMAN	R	431;396	ENSP00000313759:L431R;ENSP00000396018:L396R	ENSP00000313759:L431R	L	-	2	0	CTC1	8079243	0.275000	0.24201	0.037000	0.18230	0.061000	0.15899	3.396000	0.52565	2.124000	0.65301	0.487000	0.48397	CTT		0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		18	93	0	0	0	0.592651	0	18	93				
FAM187B	148109	broad.mit.edu	37	19	35718888	35718888	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(694-696)ctC>ctT		family with sequence similarity 187, member B							79.0	65.0	70.0					19																	35718888		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35718888G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.696C>T	19.37:g.35718888G>A							p.L232L	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	744	-			232					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.696C>T	CCDS12448.1																																																																																				0.502	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		6	21	0	0	0	0.248553	0	6	21				
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000552744.1_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(55-57)gCg>gTg		synaptotagmin I							56.0	56.0	56.0					12																	79611355		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611355C>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.56C>T	12.37:g.79611355C>T	ENSP00000261205:p.Ala19Val					SYT1_ENST00000552744.1_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V	p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			4	713	+			19					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.56C>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903371	0.52333	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.60424	0.2;0.2;0.19;0.2;1.85;2.43	5.51	4.62	0.57501	.	0.303302	0.37095	N	0.002258	T	0.51686	0.1689	L	0.58101	1.795	0.54753	D	0.999986	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.47058	-0.9146	10	0.30078	T	0.28	.	11.4254	0.50007	0.0:0.8545:0.0:0.1455	.	19;19	Q6AI31;P21579	.;SYT1_HUMAN	V	19	ENSP00000376932:A19V;ENSP00000261205:A19V;ENSP00000391056:A19V;ENSP00000447575:A19V;ENSP00000448861:A19V;ENSP00000401559:A19V	ENSP00000261205:A19V	A	+	2	0	SYT1	78135486	0.948000	0.32251	0.059000	0.19551	0.141000	0.21300	4.276000	0.58933	1.321000	0.45227	0.643000	0.83706	GCG		0.527	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		11	62	0	0	0	0.387290	0	11	62				
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(73-75)acA>acG		KIAA1614							23.0	27.0	26.0					1																	180885314		1914	4118	6032	SO:0001819	synonymous_variant	57710							g.chr1:180885314A>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.75A>G	1.37:g.180885314A>G							p.T25T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	130	+			25					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.75A>G	CCDS41442.1																																																																																				0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	52	0	0	0	0.435327	0	11	52				
ABCA13	154664	broad.mit.edu	37	7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A	rs367666935		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522																																						ENST00000435803.1																			2	Substitution - Missense(2)	p.A3359T(1)|p.A3414T(1)	breast(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10240-10242)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13		G	THR/ALA	0,4104		0,0,2052	157.0	157.0	157.0		10240	2.8	0.0	7		157	1,8423		0,1,4211	no	missense	ABCA13	NM_152701.3	58	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	3414/5059	48390275	1,12527	2052	4212	6264	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390275G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10240G>A	7.37:g.48390275G>A	ENSP00000411096:p.Ala3414Thr						p.A3414T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10264	+			3414					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10240G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394446	0.42410	0.0	1.19E-4	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	2.82	0.32997	.	0.313704	0.22699	N	0.056706	T	0.81654	0.4868	L	0.46157	1.445	0.09310	N	1	P;D	0.56968	0.72;0.978	B;P	0.48270	0.079;0.572	T	0.73026	-0.4112	10	0.66056	D	0.02	.	6.8772	0.24153	0.3104:0.0:0.6896:0.0	.	1116;3414	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3414	ENSP00000411096:A3414T	ENSP00000411096:A3414T	A	+	1	0	ABCA13	48360821	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.082000	0.30803	0.371000	0.24564	0.655000	0.94253	GCT		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		19	100	0	0	0	0.592651	0	19	100				
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr16:703785G>A	ENST00000293879.4	+	13	1419	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.K473K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1417-1419)aaG>aaA		WD repeat domain 90							38.0	45.0	43.0					16																	703785		1980	4156	6136	SO:0001819	synonymous_variant	197335							g.chr16:703785G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1419G>A	16.37:g.703785G>A						WDR90_ENST00000293879.4_Silent_p.K473K	p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			13	1511	+		Hepatocellular(780;0.0218)	473					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1419G>A	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	77	0	0	0	0.115264	0	3	77				
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4054-4056)Aag>Gag		cadherin, EGF LAG seven-pass G-type receptor 2							100.0	96.0	98.0					1																	109803759		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803759A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4054A>G	1.37:g.109803759A>G	ENSP00000271332:p.Lys1352Glu						p.K1352E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4115	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1352			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4054A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217153	0.58560	.	.	ENSG00000143126	ENST00000271332	D	0.87491	-2.26	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.68778	0.3038	L	0.31664	0.95	0.45477	D	0.99844	P	0.47302	0.893	B	0.39590	0.304	T	0.70099	-0.4965	9	0.24483	T	0.36	.	11.4327	0.50050	0.8384:0.1616:0.0:0.0	.	1352	Q9HCU4	CELR2_HUMAN	E	1352	ENSP00000271332:K1352E	ENSP00000271332:K1352E	K	+	1	0	CELSR2	109605282	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.856000	0.48341	2.007000	0.58848	0.459000	0.35465	AAG		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	130	0	0	0	0.819951	0	34	130				
MT-ND2	4536	broad.mit.edu	37	M	2054	2054	+	5'Flank	SNP	T	T	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:2054T>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TCAACTTTAAATTTGCCCACA	0.398																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2054T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2054T>C	Exception_encountered							NR_039705.1						0	384	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.398	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		25	28	0	0	0	0.729181	0	25	28				
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602																																						ENST00000244050.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17						c.(475-477)tGc>tTc		snail family zinc finger 1							40.0	41.0	41.0					20																	48600754		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600754G>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.476G>T	20.37:g.48600754G>T	ENSP00000244050:p.Cys159Phe						p.C159F	NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	537	+			159					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.476G>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718233	0.89205	.	.	ENSG00000124216	ENST00000244050	D	0.99974	-10.2	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95682	0.8733	10	0.87932	D	0	-34.5017	17.7592	0.88460	0.0:0.0:1.0:0.0	.	159	O95863	SNAI1_HUMAN	F	159	ENSP00000244050:C159F	ENSP00000244050:C159F	C	+	2	0	SNAI1	48034161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	TGC		0.602	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			3	34	1	0	0.115264	0.115264	0.125201	3	34				
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(757-759)gGt>gAt		thioredoxin-like 1							88.0	85.0	86.0					18																	54278306		2203	4297	6500	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54278306C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.758G>A	18.37:g.54278306C>T	ENSP00000217515:p.Gly253Asp					TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D|TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D	p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	7	962	-			253			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.758G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945721	0.73672	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.24538	1.85	5.78	5.78	0.91487	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.045533	0.85682	D	0.000000	T	0.42223	0.1193	M	0.83012	2.62	0.80722	D	1	B;B	0.14805	0.01;0.011	B;B	0.31547	0.132;0.091	T	0.31110	-0.9955	10	0.44086	T	0.13	.	19.6075	0.95586	0.0:1.0:0.0:0.0	.	253;253	B2R960;O43396	.;TXNL1_HUMAN	D	253;130	ENSP00000217515:G253D	ENSP00000217515:G253D	G	-	2	0	TXNL1	52429304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.151000	0.77411	2.749000	0.94314	0.655000	0.94253	GGT		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			9	41	0	0	0	0.361761	0	9	41				
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCTCCCGCAACGACTTCATGG	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(757-759)aaC>aaT		protein kinase C, gamma							57.0	45.0	49.0					19																	54395835		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395835C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.759C>T	19.37:g.54395835C>T						PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000536044.1_Silent_p.N253N	p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1041	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		253			C2.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.759C>T	CCDS12867.1																																																																																				0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		8	37	0	0	0	0.361761	0	8	37				
CCM2L	140706	broad.mit.edu	37	20	30617620	30617620	+	Missense_Mutation	SNP	C	C	T	rs78544950	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:30617620C>T	ENST00000300415.8	+	9	1394	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	461																	CTACGGAGACCGGCGCAAGTT	0.647																																						ENST00000300415.8																			0											c.(1381-1383)Cgg>Tgg		cerebral cavernous malformation 2-like							46.0	43.0	44.0					20																	30617620		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30617620C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1381C>T	20.37:g.30617620C>T	ENSP00000300415:p.Arg461Trp					CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA	p.R461W							9	1394	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1381C>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.163315	0.57476	.	.	ENSG00000101331	ENST00000300415;ENST00000452892	T;T	0.37584	1.19;1.19	5.65	3.56	0.40772	.	0.570763	0.17797	N	0.161699	T	0.34019	0.0883	.	.	.	0.27044	N	0.963933	D	0.60160	0.987	B	0.42882	0.401	T	0.26292	-1.0107	9	0.72032	D	0.01	-23.6914	13.4301	0.61051	0.3949:0.6051:0.0:0.0	.	461	Q9NUG4	CT160_HUMAN	W	461;214	ENSP00000300415:R461W;ENSP00000392448:R214W	ENSP00000300415:R461W	R	+	1	2	C20orf160	30081281	0.998000	0.40836	0.997000	0.53966	0.958000	0.62258	2.860000	0.48372	1.357000	0.45904	-0.311000	0.09066	CGG		0.647	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		26	74	0	0	0	0.740014	0	26	74				
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CGCCAACATCATCTGCTCCAT	0.498																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(535-537)Atc>Gtc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						110.0	95.0	100.0					19																	41512860		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512860A>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.535A>G	19.37:g.41512860A>G	ENSP00000324648:p.Ile179Val					CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron	p.I179V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	542	+			179					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.535A>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.386107	0.42308	.	.	ENSG00000197408	ENST00000324071	T	0.73047	-0.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.82923	2.615	0.80722	D	1	B	0.28801	0.223	B	0.31547	0.132	T	0.75997	-0.3120	10	0.72032	D	0.01	.	11.8072	0.52163	1.0:0.0:0.0:0.0	.	179	P20813	CP2B6_HUMAN	V	179	ENSP00000324648:I179V	ENSP00000324648:I179V	I	+	1	0	CYP2B6	46204700	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.725000	0.74752	1.901000	0.55032	0.348000	0.21847	ATC		0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		3	42	0	0	0	0.115264	0	3	42				
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1693-1695)Cag>Aag		transcription factor 20 (AR1)							61.0	57.0	58.0					22																	42609619		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609619G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1693C>A	22.37:g.42609619G>T	ENSP00000352463:p.Gln565Lys					TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1829	-			565					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1693C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.12;0.12	6.17	6.17	0.99709	.	0.172756	0.41500	D	0.000875	T	0.57359	0.2048	N	0.19112	0.55	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.49153	-0.8969	10	0.06494	T	0.89	-12.6915	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	565;565	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	565	ENSP00000352463:Q565K;ENSP00000335561:Q565K	ENSP00000335561:Q565K	Q	-	1	0	TCF20	40939563	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.765000	0.68834	2.941000	0.99782	0.655000	0.94253	CAG		0.582	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	66	1	0	0.150653	0.150653	0.160867	4	66				
PCDHB4	56131	broad.mit.edu	37	5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	31					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(91-93)cGt>cAt									107.0	107.0	107.0					5																	140501672		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501672G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.92G>A	5.37:g.140501672G>A	ENSP00000194152:p.Arg31His						p.R31H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	92	+			31					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.92G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358646	0.24598	.	.	ENSG00000081818	ENST00000194152	T	0.31769	1.48	4.66	0.841	0.18918	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	L	0.55743	1.74	0.33212	D	0.553564	B	0.22800	0.075	B	0.27715	0.082	T	0.30794	-0.9966	9	0.44086	T	0.13	.	8.447	0.32847	0.4859:0.0:0.5141:0.0	.	31	Q9Y5E5	PCDB4_HUMAN	H	31	ENSP00000194152:R31H	ENSP00000194152:R31H	R	+	2	0	PCDHB4	140481856	0.000000	0.05858	0.958000	0.39756	0.941000	0.58515	0.059000	0.14322	0.274000	0.22072	0.655000	0.94253	CGT		0.527	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		5	73	0	0	0	0.217242	0	5	73				
CARD10	29775	broad.mit.edu	37	22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657																																						ENST00000403299.1																			1	Substitution - Missense(1)	p.R838W(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2512-2514)Cgg>Tgg		caspase recruitment domain family, member 10							28.0	28.0	28.0					22																	37888774		2202	4300	6502	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888774G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2512C>T	22.37:g.37888774G>A	ENSP00000384570:p.Arg838Trp					CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W	p.R838W			Q9BWT7	CAR10_HUMAN			18	2728	-	Melanoma(58;0.0574)		838					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2512C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310674	0.60414	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.44482	0.92;2.62;0.92;1.24	4.84	2.65	0.31530	.	0.263418	0.32884	N	0.005536	T	0.55784	0.1942	L	0.53249	1.67	0.31308	N	0.687487	D;D	0.89917	0.996;1.0	P;D	0.75020	0.727;0.985	T	0.61821	-0.6984	10	0.87932	D	0	-25.2973	11.2183	0.48840	0.0:0.0:0.6667:0.3333	.	838;552	Q9BWT7;Q8NC81	CAR10_HUMAN;.	W	838;552;838;479	ENSP00000384570:R838W;ENSP00000385799:R552W;ENSP00000251973:R838W;ENSP00000416239:R479W	ENSP00000251973:R838W	R	-	1	2	CARD10	36218720	0.997000	0.39634	1.000000	0.80357	0.376000	0.30014	2.646000	0.46630	0.588000	0.29660	-0.314000	0.08810	CGG		0.657	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		3	49	0	0	0	0.115264	0	3	49				
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T	rs376593773		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:27874814C>T	ENST00000247087.5	-	5	4409	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000374011.2_Silent_p.P1271P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3811-3813)ccG>ccA		AT hook, DNA binding motif, containing 1		C		1,4403		0,1,2201	40.0	51.0	48.0		3813	-9.8	0.8	1		48	1,8591		0,1,4295	no	coding-synonymous	AHDC1	NM_001029882.2		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		1271/1604	27874814	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874814C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3813G>A	1.37:g.27874814C>T						AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.P1271P	p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4781	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1271					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3813G>A	CCDS30652.1																																																																																				0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			29	105	0	0	0	0.769981	0	29	105				
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1138-1140)cCt>cTt		T-box 20							79.0	80.0	80.0					7																	35242247		1990	4164	6154	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242247G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1139C>T	7.37:g.35242247G>A	ENSP00000386170:p.Pro380Leu						p.P380L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1665	-			380					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1139C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775571	0.90195	.	.	ENSG00000164532	ENST00000408931	D	0.88046	-2.33	5.46	5.46	0.80206	.	0.055617	0.64402	D	0.000001	T	0.81650	0.4867	L	0.27053	0.805	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.77403	-0.2601	10	0.34782	T	0.22	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	380	Q9UMR3	TBX20_HUMAN	L	380	ENSP00000386170:P380L	ENSP00000386170:P380L	P	-	2	0	TBX20	35208772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.548000	0.85928	0.609000	0.83330	CCT		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		7	66	0	0	0	0.307466	0	7	66				
MT-ND5	4540	broad.mit.edu	37	M	13367	13367	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:13367G>A	ENST00000361567.2	+	1	1031	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	344					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TATGTGCTCCGGGTCCATCAT	0.443																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1030-1032)gGg>gAg		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13367G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1031G>A	M.37:g.13367G>A	ENSP00000354813:p.Gly344Glu						p.G344E			P03915	NU5M_HUMAN			1	1031	+			344					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1031G>A																																																																																					0.443	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		29	28	0	0	0	0.769981	0	29	28				
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.V963V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3286-3288)gtG>gtT		SH3 and PX domains 2A							112.0	117.0	115.0					10																	105361687		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361687C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3288G>T	10.37:g.105361687C>A						SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V	p.V1096V			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3564	-		Colorectal(252;0.0815)|Breast(234;0.131)	1096			SH3 5.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3288G>T		.	.	.	.	.	.	.	.	.	.	C	3.174	-0.169338	0.06461	.	.	ENSG00000107957	ENST00000420222	T	0.29655	1.56	5.39	3.55	0.40652	.	0.116207	0.64402	D	0.000015	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.52906	T	0.07	-18.6284	2.9755	0.05936	0.1242:0.5384:0.1763:0.1611	.	.	.	.	F	1023	ENSP00000395781:V1023F	ENSP00000395781:V1023F	V	-	1	0	SH3PXD2A	105351677	0.393000	0.25237	1.000000	0.80357	0.921000	0.55340	-0.347000	0.07750	0.660000	0.30964	-0.258000	0.10820	GTC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	105	1	0	1.96895e-08	0.639603	2.29711e-08	22	105				
SULF2	55959	broad.mit.edu	37	20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15904	0.001		0.0	False		,,,				2504	0.0					ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1477-1479)Gtg>Atg		sulfatase 2			MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		1477,1477,1477	4.5	1.0	20	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	21,21,21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	493/871,493/871,493/868	46301041	3,13003	2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46301041C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1477G>A	20.37:g.46301041C>T	ENSP00000353007:p.Val493Met					SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			11	2328	-			493					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1477G>A	CCDS13408.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.25	1.881683	0.33255	2.27E-4	2.33E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.42	4.46	0.54185	Alkaline-phosphatase-like, core domain (1);	0.481359	0.23395	N	0.048644	D	0.93867	0.8038	N	0.03115	-0.41	0.23563	N	0.997408	B;B	0.20459	0.016;0.045	B;B	0.15870	0.009;0.014	D	0.86428	0.1759	10	0.34782	T	0.22	-9.0405	6.3516	0.21379	0.0:0.6835:0.1542:0.1623	.	493;493	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	M	493	ENSP00000353007:V493M;ENSP00000418290:V493M;ENSP00000354662:V493M;ENSP00000418442:V493M	ENSP00000353007:V493M	V	-	1	0	SULF2	45734448	0.089000	0.21612	1.000000	0.80357	0.889000	0.51656	0.170000	0.16663	2.537000	0.85549	0.552000	0.68991	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		28	80	0	0	0	0.769981	0	28	80				
MT-ND2	4536	broad.mit.edu	37	M	2302	2302	+	5'Flank	SNP	T	T	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:2302T>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AAGAACTAATGTTAGTATAAG	0.393																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2302T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2302T>C	Exception_encountered							NR_039705.1						0	632	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		12	41	0	0	0	0.457914	0	12	41				
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(529-531)aaT>aaA		protease, serine, 58							179.0	162.0	168.0					7																	141952337		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952337A>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.531T>A	7.37:g.141952337A>T	ENSP00000446916:p.Asn177Lys					PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K	p.N177K			Q8IYP2	PRS58_HUMAN			4	850	-			177			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.531T>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384552	0.61845	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82167	-1.58;-1.58	4.35	-8.0	0.01126	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81659	0.4869	L	0.55481	1.735	0.20307	N	0.999911	D	0.60575	0.988	P	0.56088	0.791	T	0.77563	-0.2541	9	0.59425	D	0.04	.	7.4421	0.27190	0.6054:0.2321:0.1625:0.0	.	177	Q8IYP2	PRS58_HUMAN	K	177	ENSP00000447588:N177K;ENSP00000446916:N177K	ENSP00000307206:N177K	N	-	3	2	PRSS58	141598815	0.005000	0.15991	0.000000	0.03702	0.120000	0.20174	-0.172000	0.09868	-1.768000	0.01298	-0.408000	0.06270	AAT		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	148	0	0	0	0.307466	0	7	148				
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																						ENST00000396396.1																			3	Substitution - Missense(3)	p.I98V(3)	endometrium(3)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(292-294)Atc>Gtc		phosphoglucomutase 5							35.0	38.0	37.0					9																	70993145		2198	4289	6487	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993145A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val					PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	521	+			98					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.292A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		4	64	0	0	0	0.217242	0	4	64				
PCDH9	5101	broad.mit.edu	37	13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:67801779G>A	ENST00000377865.2	-	1	928	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A265V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V			Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(793-795)gCt>gTt		protocadherin 9							119.0	109.0	112.0					13																	67801779		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801779G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.794C>T	13.37:g.67801779G>A	ENSP00000367096:p.Ala265Val					PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V	p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1485	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	265			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.794C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701842	0.68501	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.048166	0.85682	D	0.000000	T	0.63058	0.2479	L	0.33753	1.03	0.80722	D	1	P;D;D;D	0.62365	0.956;0.984;0.98;0.991	P;P;P;D	0.63597	0.818;0.868;0.863;0.916	T	0.54262	-0.8320	10	0.30078	T	0.28	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	265;265;265;265	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	265	ENSP00000442186:A265V;ENSP00000367096:A265V;ENSP00000401699:A265V;ENSP00000332060:A265V;ENSP00000367092:A265V	ENSP00000332060:A265V	A	-	2	0	PCDH9	66699780	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	81	0	0	0	0.500413	0	13	81				
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).		G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(7-9)Cga>Tga		gastrin							283.0	279.0	280.0					17																	39871695		2203	4300	6503	SO:0001587	stop_gained	2520					extracellular region	hormone activity	g.chr17:39871695C>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.7C>T	17.37:g.39871695C>T	ENSP00000331358:p.Arg3*					JUP_ENST00000540235.1_Intron	p.R3*	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	74	+		Breast(137;0.000307)	3		R -> P (in dbSNP:rs34309618).			P78463|P78464	Nonsense_Mutation	SNP	ENST00000329402.3	37	c.7C>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984941	0.53934	.	.	ENSG00000184502	ENST00000329402	.	.	.	4.41	2.22	0.28083	.	0.933817	0.08817	N	0.889406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9714	9.2442	0.37515	0.389:0.611:0.0:0.0	.	.	.	.	X	3	.	ENSP00000331358:R3X	R	+	1	2	GAST	37125221	0.001000	0.12720	0.005000	0.12908	0.161000	0.22273	0.676000	0.25247	1.025000	0.39708	0.655000	0.94253	CGA		0.592	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			42	342	0	0	0	0.870114	0	42	342				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	63	0	0	0	0.479597	0	4	63				
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:12032526T>A	ENST00000353533.5	+	9	1025	c.962T>A	c.(961-963)gTg>gAg	p.V321E	MAP2K4_ENST00000415385.3_Missense_Mutation_p.V332E	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(994-996)gTg>gAg		mitogen-activated protein kinase kinase 4							96.0	88.0	91.0					17																	12032526		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032526T>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.962T>A	17.37:g.12032526T>A	ENSP00000262445:p.Val321Glu					MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	p.V332E			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1048	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	321			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.995T>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820585	0.90873	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.954;0.993;0.994	T	0.76487	-0.2941	10	0.87932	D	0	.	14.2917	0.66284	0.0:0.0:0.0:1.0	.	193;332;321	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	E	321;332;298;193	ENSP00000262445:V321E;ENSP00000410402:V332E	ENSP00000262445:V321E	V	+	2	0	MAP2K4	11973251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.263000	0.75096	0.533000	0.62120	GTG		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			14	62	0	0	0	0.457914	0	14	62				
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1093-1095)Tcg>Gcg		tripartite motif containing 31							128.0	137.0	134.0					6																	30071498		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071498A>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1093T>G	6.37:g.30071498A>C	ENSP00000365924:p.Ser365Ala					TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			9	1218	-			365					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1093T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	6.172	0.399963	0.11696	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.66815	-0.23;-0.23	2.25	-2.05	0.07321	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.35607	0.206	T	0.22138	-1.0225	9	0.18276	T	0.48	.	2.1743	0.03858	0.4426:0.0:0.317:0.2403	.	365	Q9BZY9	TRI31_HUMAN	A	365	ENSP00000365924:S365A;ENSP00000444311:S365A	ENSP00000365918:S365A	S	-	1	0	TRIM31	30179477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.148000	0.16224	-0.480000	0.06803	0.472000	0.43445	TCG		0.527	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			14	139	0	0	0	0.539581	0	14	139				
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:115262240G>A	ENST00000358528.4	-	18	2602	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000483407.1_5'Flank|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000438362.2_Missense_Mutation_p.R772C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2314-2316)Cgc>Tgc		cold shock domain containing E1, RNA-binding							146.0	146.0	146.0					1																	115262240		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115262240G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2176C>T	1.37:g.115262240G>A	ENSP00000351329:p.Arg726Cys					CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	p.R772C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2692	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	726					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.2314C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933538	0.73442	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	5.26	0.73747	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.092767	0.85682	D	0.000000	T	0.62319	0.2418	M	0.87328	2.875	0.80722	D	1	B;B;B	0.18863	0.031;0.003;0.003	B;B;B	0.12837	0.008;0.005;0.003	T	0.68150	-0.5485	9	0.87932	D	0	-1.1453	15.7894	0.78343	0.065:0.0:0.935:0.0	.	741;726;772	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	C	695;772;726;695;596;741;726	.	ENSP00000261443:R695C	R	-	1	0	CSDE1	115063763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	1.626000	0.50381	0.655000	0.94253	CGC		0.453	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		7	101	0	0	0	0.307466	0	7	101				
GRIFIN	402635	broad.mit.edu	37	7	2516117	2516118	+	RNA	DEL	GA	GA	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:2516117_2516118delGA	ENST00000417742.1	-	0	170							A4D1Z8	GRIFN_HUMAN	galectin-related inter-fiber protein								carbohydrate binding (GO:0030246)						Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		agcgccgggggagggctggggg	0.787																																						ENST00000417742.1																			0													galectin-related inter-fiber protein																																						402635							g.chr7:2516117_2516118delGA			7p22.2	2013-01-30			ENSG00000236734	ENSG00000275572			4577	protein-coding gene	gene with protein product						9786891, 18087242	Standard	NM_001291784		Approved			A4D1Z8	OTTHUMG00000152042		7.37:g.2516117_2516118delGA													UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)	0	170	-		Ovarian(82;0.11)							RNA	DEL	ENST00000417742.1	37																																																																																						0.787	GRIFIN-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000325020.1			2	4						2	4	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729786	78729786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:78729786delT	ENST00000286628.8	-	20	2305	c.2306delA	c.(2305-2307)aagfs	p.K769fs	KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000286627.5_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	769					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.K711fs*17(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATTCCGTTGCTTTTTTTTTGG	0.502																																						ENST00000286627.5																			1	Deletion - Frameshift(1)	p.K711fs*17(1)	ovary(1)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2131-2133)agfs		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						249.0	212.0	225.0					10																	78729786		2203	4300	6503	SO:0001589	frameshift_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78729786delT	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2306delA	10.37:g.78729786delT	ENSP00000286628:p.Lys769fs					KCNMA1_ENST00000286628.8_Frame_Shift_Del_p.K769fs|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs	p.K711fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		19	3084	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		706					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Del	DEL	ENST00000286628.8	37	c.2132delA																																																																																					0.502	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	86						7	86	---	---	---	---
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000452508.2	+	11	1640	c.1451delG	c.(1450-1452)tggfs	p.W484fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.W484fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	484					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1450-1452)tgfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							89.0	96.0	93.0					11																	108121643		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121643delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1451delG	11.37:g.108121643delG	ENSP00000388058:p.Trp484fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1836	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	484					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.1451delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	54						15	54	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-	rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)ccgcca>cca	p.420_421PP>P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	420	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1258-1263)cca>cc		Zic family member 5																																				SO:0001651	inframe_deletion	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622668_100622670delGGC	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1260_1262delGCC	13.37:g.100622677_100622679delGGC	ENSP00000267294:p.Pro424del						p.PP422del	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1493_1495	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		422			Pro-rich.		Q5VYB0	In_Frame_Del	DEL	ENST00000267294.4	37	c.1260_1262delGCC	CCDS9494.2																																																																																				0.724	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		3	3						3	3	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000380102.2																			1	Deletion - In frame(1)	p.S50_P54delSCCAP(1)	upper_aerodigestive_tract(1)	breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(133-150)ccc>cc		keratin associated protein 10-7			,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675					keratin filament		g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS45del	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	160_174	+			45			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	ENST00000380102.2	37	c.135_149delCTGCTGCGCCCCCAG																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		7	13						7	13	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65.0	66.0	66.0					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	89						7	89	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)cagdel	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1201-1203)del		ZFP36 ring finger protein-like 2				5,1,155,3111		0,0,0,5,0,0,1,34,87,1509						0.7	1.0			4	81,23,410,6270		16,1,1,47,2,0,18,47,315,2945	no	codingComplex	ZFP36L2	NM_006887.4		16,1,1,52,2,0,19,81,402,4454	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.5767,4.9205,6.7124				86,24,565,9381				SO:0001651	inframe_deletion	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451740_43451742delCTG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1201_1203delCAG	2.37:g.43451749_43451751delCTG	ENSP00000282388:p.Gln401del					THADA_ENST00000330266.7_Intron	p.Q401del	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1494_1496	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	401			Poly-Gln.		Q53TB4|Q9BSJ3	In_Frame_Del	DEL	ENST00000282388.3	37	c.1201_1203delCAG	CCDS1811.1																																																																																				0.764	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		3	6						3	6	---	---	---	---
UBE2E1	7324	broad.mit.edu	37	3	23847374	23847376	+	5'Flank	DEL	GAG	GAG	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr3:23847374_23847376delGAG	ENST00000306627.3	+	0	0				UBE2E1_ENST00000346855.3_5'Flank|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						gggtgagggcgaggaggaggagg	0.69																																						ENST00000426702.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:23847374_23847376delGAG	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483		3.37:g.23847383_23847385delGAG	Exception_encountered													0	87	-								B2RBX4|C9J8K2|K4DI90	RNA	DEL	ENST00000306627.3	37		CCDS2638.1																																																																																				0.690	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341		4	5						4	5	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-	rs368317388		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:72667747delT	ENST00000425256.1	-	0	633									GTF2I repeat domain containing 2 pseudogene 1																		tttttttttcttttttttttt	0.388																																						ENST00000425256.1																			0																																																			0							g.chr7:72667747delT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72667747delT								NR_002164.1						0	633	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.388	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	4						3	4	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101730036	101730037	+	Frame_Shift_Ins	INS	-	-	C	rs545344384	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr8:101730036_101730037insC	ENST00000318607.5	-	3	1595_1596	c.467_468insG	c.(466-468)gaafs	p.E156fs	PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTCATTTTTTCAATAGCTCT	0.337													-|-|C|insertion	726	0.144968	0.2133	0.1124	5008	,	,		20837	0.0764		0.0825	False		,,,				2504	0.2106					ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(466-468)gaafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730036_101730037insC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.467_468insG	8.37:g.101730036_101730037insC	ENSP00000313007:p.Glu156fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs	p.E156fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		3	1595_1596	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		156			RRM 2.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.467_468insG	CCDS6289.1																																																																																				0.337	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		13	87						13	87	---	---	---	---
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr11:108121643delG	ENST00000452508.2	+	11	1640	c.1451delG	c.(1450-1452)tggfs	p.W484fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.W484fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	484					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1450-1452)tgfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							89.0	96.0	93.0					11																	108121643		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121643delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1451delG	11.37:g.108121643delG	ENSP00000388058:p.Trp484fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1836	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	484					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.1451delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	54						15	54	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-	rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)ccgcca>cca	p.420_421PP>P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	420	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1258-1263)cca>cc		Zic family member 5																																				SO:0001651	inframe_deletion	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622668_100622670delGGC	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1260_1262delGCC	13.37:g.100622677_100622679delGGC	ENSP00000267294:p.Pro424del						p.PP422del	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1493_1495	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		422			Pro-rich.		Q5VYB0	In_Frame_Del	DEL	ENST00000267294.4	37	c.1260_1262delGCC	CCDS9494.2																																																																																				0.724	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		3	3						3	3	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36861675	36861675	+	5'Flank	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:36861675delG	ENST00000325718.7	+	0	0				CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_5'Flank|CTB-58E17.1_ENST00000563897.1_lincRNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGCACGGCGGGGGGGGCGG	0.736			T	MLL	AL																																	ENST00000583409.1				Dom	yes		17	17q21	4302		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L					0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:36861675delG		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498		17.37:g.36861675delG	Exception_encountered													0	208	-								Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	DEL	ENST00000325718.7	37		CCDS11327.1																																																																																				0.736	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		2	4						2	4	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17119421	17119422	+	lincRNA	INS	-	-	ATTTATTT	rs201717356|rs371888525		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:17119421_17119422insATTTATTT	ENST00000426585.1	+	0	280									transmembrane phosphatase with tensin homology pseudogene 1																		TTTATCTTTGCatttatttatt	0.351																																						ENST00000426585.1																			0																																																			0							g.chr22:17119421_17119422insATTTATTT			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119422_17119429dupATTTATTT														0	280	+									RNA	INS	ENST00000426585.1	37																																																																																						0.351	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	4						3	4	---	---	---	---
