#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
ABI2	10152	broad.mit.edu	37	2	204259536	204259536	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:204259536C>G	ENST00000422511.2	+	6	723	c.692C>G	c.(691-693)aCa>aGa	p.T231R	ABI2_ENST00000430418.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.T225R|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.T180R|ABI2_ENST00000295851.5_Missense_Mutation_p.T231R|ABI2_ENST00000261017.5_Missense_Mutation_p.T225R|ABI2_ENST00000261018.7_Intron|RAPH1_ENST00000457812.1_3'UTR			Q9NYB9	ABI2_HUMAN	abl-interactor 2	231	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGTGAGGACAGCTTCTGTG	0.468																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(691-693)aCa>aGa		abl-interactor 2							144.0	132.0	136.0					2																	204259536		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259536C>G	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.692C>G	2.37:g.204259536C>G	ENSP00000396249:p.Thr231Arg					ABI2_ENST00000261016.6_Missense_Mutation_p.T180R|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.T225R|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.T225R|ABI2_ENST00000422511.2_Missense_Mutation_p.T231R	p.T231R			Q9NYB9	ABI2_HUMAN			6	988	+			231			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.692C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679257|4.679257	0.88542|0.88542	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.94138	.|-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96636|0.96636	0.8902|0.8902	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.997;1.0;0.998;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.987;0.998;0.991;0.997;0.986;1.0	D|D	0.96497|0.96497	0.9368|0.9368	5|10	.|0.87932	.|D	.|0	-11.606|-11.606	20.2822|20.2822	0.98520|0.98520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|66;169;225;180;231;225	.|B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;ABI2_HUMAN;.	E|R	97;72|231;225;225;180;231;231	.|ENSP00000295851:T231R;ENSP00000261017:T225R;ENSP00000391433:T225R;ENSP00000261016:T180R;ENSP00000414703:T231R;ENSP00000396249:T231R	.|ENSP00000261016:T180R	Q|T	+|+	1|2	0|0	ABI2|ABI2	203967781|203967781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.625000|7.625000	0.83145|0.83145	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.468	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		9	156	0	0	0	1	0	9	156				
PSG8	440533	broad.mit.edu	37	19	43268150	43268150	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:43268150G>T	ENST00000306511.4	-	2	445	c.348C>A	c.(346-348)gaC>gaA	p.D116E	PSG8_ENST00000404209.4_Missense_Mutation_p.D116E|PSG8_ENST00000401467.2_Missense_Mutation_p.D116E|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	116	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCTGGG	0.428																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(346-348)gaC>gaA		pregnancy specific beta-1-glycoprotein 8							363.0	364.0	364.0					19																	43268150		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268150G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.348C>A	19.37:g.43268150G>T	ENSP00000305005:p.Asp116Glu					PSG8_ENST00000401467.2_Missense_Mutation_p.D116E|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.D116E	p.D116E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	444	-		Prostate(69;0.00899)	116			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.348C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.795289	0.31777	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	D;D;D	0.87729	-2.29;-2.29;-2.29	1.35	0.0855	0.14442	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93933	0.8058	H	0.95850	3.73	0.09310	N	1	D;D;P;D;D	0.76494	0.999;0.99;0.522;0.987;0.989	D;D;P;D;D	0.77557	0.99;0.982;0.676;0.983;0.99	D	0.83919	0.0300	9	0.87932	D	0	.	4.148	0.10225	0.2449:0.0:0.7551:0.0	.	116;116;116;116;116	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	E	116	ENSP00000385869:D116E;ENSP00000386090:D116E;ENSP00000305005:D116E	ENSP00000305005:D116E	D	-	3	2	PSG8	47959990	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.369000	0.07533	0.097000	0.17492	0.184000	0.17185	GAC		0.428	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			8	284	1	0	5.18039e-06	1	5.57136e-06	8	284				
GALNT3	2591	broad.mit.edu	37	2	166605326	166605326	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:166605326G>T	ENST00000392701.3	-	11	2642	c.1867C>A	c.(1867-1869)Cca>Aca	p.P623T	GALNT3_ENST00000409882.1_Missense_Mutation_p.P361T	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	623	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTTGGAGTGGATCTGATGGG	0.338																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1867-1869)Cca>Aca		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							86.0	83.0	84.0					2																	166605326		2203	4299	6502	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166605326G>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1867C>A	2.37:g.166605326G>T	ENSP00000376465:p.Pro623Thr					GALNT3_ENST00000409882.1_Missense_Mutation_p.P361T	p.P623T	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			11	2642	-			623			Ricin B-type lectin.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1867C>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	4.022	0.001607	0.07819	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.26067	1.76;1.76	5.86	-2.82	0.05787	Ricin B-related lectin (1);Ricin B lectin (3);	1.609780	0.03389	N	0.201570	T	0.20740	0.0499	L	0.54323	1.7	0.09310	N	0.999993	B	0.09022	0.002	B	0.09377	0.004	T	0.15150	-1.0447	10	0.16896	T	0.51	.	3.9086	0.09193	0.3222:0.1013:0.4832:0.0933	.	623	Q14435	GALT3_HUMAN	T	623;361	ENSP00000376465:P623T;ENSP00000386955:P361T	ENSP00000376465:P623T	P	-	1	0	GALNT3	166313572	0.383000	0.25156	0.592000	0.28758	0.950000	0.60333	0.121000	0.15667	-0.396000	0.07703	-1.008000	0.02478	CCA		0.338	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		6	78	1	0	2.0095e-06	1	2.2241e-06	6	78				
OR8H2	390151	broad.mit.edu	37	11	55872628	55872628	+	Missense_Mutation	SNP	T	T	A	rs186532936		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:55872628T>A	ENST00000313503.1	+	1	110	c.110T>A	c.(109-111)cTa>cAa	p.L37Q		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGATATACCTAATTACTATG	0.413										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(109-111)cTa>cAa		olfactory receptor, family 8, subfamily H, member 2							265.0	250.0	255.0					11																	55872628		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872628T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.110T>A	11.37:g.55872628T>A	ENSP00000323982:p.Leu37Gln	HNSCC(53;0.14)					p.L37Q	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	110	+	Esophageal squamous(21;0.00693)		37					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.110T>A	CCDS31518.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	10.29	1.308196	0.23821	.	.	ENSG00000181767	ENST00000313503	T	0.05786	3.39	3.58	2.4	0.29515	.	0.175744	0.27831	N	0.017666	T	0.24774	0.0601	M	0.92691	3.335	0.09310	N	1	D	0.54047	0.964	P	0.58577	0.841	T	0.08229	-1.0732	10	0.87932	D	0	.	8.9915	0.36026	0.2918:0.0:0.0:0.7082	.	37	Q8N162	OR8H2_HUMAN	Q	37	ENSP00000323982:L37Q	ENSP00000323982:L37Q	L	+	2	0	OR8H2	55629204	0.023000	0.18921	0.298000	0.25002	0.025000	0.11179	2.208000	0.42797	0.506000	0.28125	0.362000	0.22060	CTA		0.413	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		11	312	0	0	0	1	0	11	312				
CENPE	1062	broad.mit.edu	37	4	104030140	104030140	+	Missense_Mutation	SNP	C	C	G	rs150817909		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:104030140C>G	ENST00000265148.3	-	48	7920	c.7831G>C	c.(7831-7833)Gtg>Ctg	p.V2611L	CENPE_ENST00000380026.3_Missense_Mutation_p.V2490L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2611	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTCCAGTCACTTTAGGAGAC	0.388																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7831-7833)Gtg>Ctg		centromere protein E, 312kDa							143.0	143.0	143.0					4																	104030140		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030140C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7831G>C	4.37:g.104030140C>G	ENSP00000265148:p.Val2611Leu					CENPE_ENST00000380026.3_Missense_Mutation_p.V2490L	p.V2611L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7920	-			2611			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7831G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	3.354	-0.131858	0.06753	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.66638	-0.22;-0.21	5.19	2.32	0.28847	.	.	.	.	.	T	0.53126	0.1777	L	0.41236	1.265	0.09310	N	1	B;B	0.17667	0.015;0.023	B;B	0.16722	0.016;0.01	T	0.39583	-0.9607	9	0.30078	T	0.28	.	6.5645	0.22505	0.0:0.6506:0.1629:0.1865	.	2490;2611	Q02224-3;Q02224	.;CENPE_HUMAN	L	2611;2490	ENSP00000265148:V2611L;ENSP00000369365:V2490L	ENSP00000265148:V2611L	V	-	1	0	CENPE	104249589	0.000000	0.05858	0.017000	0.16124	0.087000	0.18053	0.093000	0.15086	0.583000	0.29574	0.655000	0.94253	GTG		0.388	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	147	0	0	0	1	0	9	147				
FAM133B	257415	broad.mit.edu	37	7	92210853	92210853	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:92210853A>G	ENST00000445716.1	-	2	191	c.89T>C	c.(88-90)aTa>aCa	p.I30T	FAM133B_ENST00000427372.1_Missense_Mutation_p.I20T|FAM133B_ENST00000438306.1_Missense_Mutation_p.I20T	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	30							poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATAATCCTGTATTGTTGGCCC	0.373																																						ENST00000438306.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(58-60)aTa>aCa		family with sequence similarity 133, member B							96.0	89.0	91.0					7																	92210853		1834	4086	5920	SO:0001583	missense	257415							g.chr7:92210853A>G		CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.89T>C	7.37:g.92210853A>G	ENSP00000398401:p.Ile30Thr					FAM133B_ENST00000427372.1_Missense_Mutation_p.I20T|FAM133B_ENST00000445716.1_Missense_Mutation_p.I30T	p.I20T	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		3	289	-	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		30					B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	ENST00000445716.1	37	c.59T>C	CCDS47640.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576257	0.86645	.	.	ENSG00000234545	ENST00000438306;ENST00000445716;ENST00000427372;ENST00000456502	T;T;T	0.47869	0.83;0.83;0.83	5.49	5.49	0.81192	.	.	.	.	.	T	0.72309	0.3444	M	0.86420	2.815	0.53688	D	0.999975	D	0.58970	0.984	D	0.69479	0.964	T	0.78252	-0.2276	9	0.87932	D	0	-6.2036	15.5802	0.76428	1.0:0.0:0.0:0.0	.	30	Q5BKY9	F133B_HUMAN	T	20;30;20;20	ENSP00000389783:I20T;ENSP00000398401:I30T;ENSP00000402843:I20T	ENSP00000389559:I30T	I	-	2	0	FAM133B	92048789	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.462000	0.90374	2.076000	0.62316	0.454000	0.30748	ATA		0.373	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342181.2	NM_001040057		3	50	0	0	0	1	0	3	50				
LAMA3	3909	broad.mit.edu	37	18	21508591	21508591	+	Silent	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21508591T>A	ENST00000313654.9	+	64	8539	c.8298T>A	c.(8296-8298)ctT>ctA	p.L2766L	LAMA3_ENST00000269217.6_Silent_p.L1157L|LAMA3_ENST00000399516.3_Silent_p.L2710L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L1101L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2766					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CATTTCAGCTTGTGCGATCTG	0.418																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8296-8298)ctT>ctA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						162.0	141.0	148.0					18																	21508591		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508591T>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8298T>A	18.37:g.21508591T>A						LAMA3_ENST00000269217.6_Silent_p.L1157L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L1101L|LAMA3_ENST00000399516.3_Silent_p.L2710L	p.L2766L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			64	8539	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2766					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8298T>A	CCDS42419.1																																																																																				0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	152	0	0	0	1	0	6	152				
CBLB	868	broad.mit.edu	37	3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A	rs372086643		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000394027.3_Missense_Mutation_p.R662W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1918-1920)Cgg>Tgg		Cbl proto-oncogene B, E3 ubiquitin protein ligase		G	TRP/ARG	0,4406		0,0,2203	135.0	137.0	136.0		1918	-2.1	0.3	3		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	640/983	105420979	1,13005	2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105420979G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1918C>T	3.37:g.105420979G>A	ENSP00000264122:p.Arg640Trp					CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			12	2239	-			640			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1918C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828909	0.50845	0.0	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84660	-1.29;-1.85;-1.85;-1.88;-1.88	5.73	-2.08	0.07254	.	0.419665	0.25076	N	0.033327	D	0.85296	0.5664	L	0.59436	1.845	0.47862	D	0.999533	P;D;D	0.60160	0.946;0.987;0.978	B;P;P	0.49887	0.421;0.625;0.619	D	0.86495	0.1800	10	0.87932	D	0	-1.9622	17.5349	0.87827	0.0:0.0:0.2863:0.7137	.	662;640;640	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	23;640;662;640;640	ENSP00000377598:R23W;ENSP00000264122:R640W;ENSP00000377595:R662W;ENSP00000384816:R640W;ENSP00000384938:R640W	ENSP00000264122:R640W	R	-	1	2	CBLB	106903669	0.389000	0.25205	0.341000	0.25589	0.775000	0.43874	-0.031000	0.12287	-0.213000	0.10094	-0.196000	0.12772	CGG		0.473	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		4	202	0	0	0	1	0	4	202				
F5	2153	broad.mit.edu	37	1	169489863	169489863	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:169489863T>C	ENST00000367797.3	-	22	6289	c.6088A>G	c.(6088-6090)Aat>Gat	p.N2030D	F5_ENST00000367796.3_Missense_Mutation_p.N2035D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2030	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCAAACTGATTCTCTTTTATT	0.358																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6103-6105)Aat>Gat		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						63.0	62.0	62.0					1																	169489863		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489863T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6088A>G	1.37:g.169489863T>C	ENSP00000356771:p.Asn2030Asp					F5_ENST00000367797.3_Missense_Mutation_p.N2030D	p.N2035D			P12259	FA5_HUMAN			22	6304	-	all_hematologic(923;0.208)		2030			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6103A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150569	0.78001	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99121	-5.45;-5.45	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.048364	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96691	3.865	0.39734	D	0.971648	D	0.89917	1.0	D	0.87578	0.998	D	0.97894	1.0299	9	0.87932	D	0	-30.2843	15.2069	0.73186	0.0:0.0:0.0:1.0	.	2030	P12259	FA5_HUMAN	D	2030;2035	ENSP00000356771:N2030D;ENSP00000356770:N2035D	ENSP00000356770:N2035D	N	-	1	0	F5	167756487	1.000000	0.71417	0.907000	0.35723	0.893000	0.52053	4.122000	0.57910	2.073000	0.62155	0.533000	0.62120	AAT		0.358	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		25	43	0	0	0	1	0	25	43				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	122	0	0	0	1	0	4	122				
KRTAP5-3	387266	broad.mit.edu	37	11	1629104	1629104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:1629104C>T	ENST00000399685.1	-	1	589	c.512G>A	c.(511-513)tGt>tAt	p.C171Y		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	171	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gcagggcttacagcagctgga	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(511-513)tGt>tAt		keratin associated protein 5-3							126.0	134.0	132.0					11																	1629104		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629104C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.512G>A	11.37:g.1629104C>T	ENSP00000382592:p.Cys171Tyr						p.C171Y	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	589	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	171			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.512G>A	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	1.409	-0.576048	0.03882	.	.	ENSG00000196224	ENST00000399685	T	0.01185	5.21	3.24	2.3	0.28687	.	.	.	.	.	T	0.03011	0.0089	M	0.92649	3.33	0.09310	N	1	B	0.24823	0.112	B	0.23419	0.046	T	0.27434	-1.0074	9	0.66056	D	0.02	.	5.0085	0.14300	0.0:0.6552:0.2189:0.1259	.	171	Q6L8H2	KRA53_HUMAN	Y	171	ENSP00000382592:C171Y	ENSP00000382592:C171Y	C	-	2	0	KRTAP5-3	1585680	0.971000	0.33674	0.002000	0.10522	0.003000	0.03518	2.555000	0.45854	0.454000	0.26884	0.442000	0.29010	TGT		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	640	0	0	0	1	0	6	640				
PLCD1	5333	broad.mit.edu	37	3	38061842	38061842	+	Splice_Site	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:38061842G>T	ENST00000334661.4	-	2	258	c.36C>A	c.(34-36)ggC>ggA	p.G12G	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Splice_Site_p.G33G	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	12					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATCCTGTAGGCCTGGGGATC	0.577																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.e2-1		phospholipase C, delta 1							80.0	66.0	71.0					3																	38061842		2203	4300	6503	SO:0001630	splice_region_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38061842G>T		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.35-1C>A	3.37:g.38061842G>T						PLCD1_ENST00000334661.4_Splice_Site_p.G12_splice	p.G33_splice	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	2	452	-			12			PH.|Substrate binding (By similarity).		B3KR14|Q86VN8	Splice_Site	SNP	ENST00000334661.4	37	c.97_splice	CCDS2671.1																																																																																				0.577	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		Silent	4	68	1	0	0.0215528	1	0.0217435	4	68				
KDM5D	8284	broad.mit.edu	37	Y	21894510	21894510	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrY:21894510A>G	ENST00000317961.4	-	9	1323	c.1052T>C	c.(1051-1053)aTc>aCc	p.I351T	KDM5D_ENST00000382806.2_Missense_Mutation_p.I294T|KDM5D_ENST00000541639.1_Missense_Mutation_p.I351T	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	351					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCCTCTGGGGATTTCAGGAAG	0.453																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(1051-1053)aTc>aCc		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)																																			SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21894510A>G	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1052T>C	Y.37:g.21894510A>G	ENSP00000322408:p.Ile351Thr					KDM5D_ENST00000317961.4_Missense_Mutation_p.I351T|KDM5D_ENST00000382806.2_Missense_Mutation_p.I294T	p.I351T	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			9	1339	-			351					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.1052T>C	CCDS14794.1																																																																																				0.453	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		6	21	0	0	0	1	0	6	21				
DNAH8	1769	broad.mit.edu	37	6	38854673	38854673	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:38854673T>C	ENST00000359357.3	+	55	7969	c.7715T>C	c.(7714-7716)aTg>aCg	p.M2572T	DNAH8_ENST00000441566.1_Missense_Mutation_p.M2536T|DNAH8_ENST00000449981.2_Missense_Mutation_p.M2789T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2572	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGCAGCAATGATCCACCCT	0.398																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7714-7716)aTg>aCg		dynein, axonemal, heavy chain 8							156.0	142.0	147.0					6																	38854673		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38854673T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7715T>C	6.37:g.38854673T>C	ENSP00000352312:p.Met2572Thr					DNAH8_ENST00000449981.2_Missense_Mutation_p.M2789T|DNAH8_ENST00000441566.1_Missense_Mutation_p.M2536T	p.M2572T							55	7969	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7715T>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.220710	0.79464	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.33654	1.4;1.4;1.4	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85544	0.1217	10	0.87932	D	0	.	15.5563	0.76196	0.0:0.0:0.0:1.0	.	2572	Q96JB1	DYH8_HUMAN	T	2777;2777;2572;2536	ENSP00000333363:M2777T;ENSP00000352312:M2572T;ENSP00000402294:M2536T	ENSP00000333363:M2777T	M	+	2	0	DNAH8	38962651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.948000	0.87774	2.078000	0.62432	0.459000	0.35465	ATG		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	81	0	0	0	1	0	8	81				
NR3C2	4306	broad.mit.edu	37	4	149357481	149357481	+	Missense_Mutation	SNP	G	G	A	rs375487193		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:149357481G>A	ENST00000358102.3	-	2	894	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	NR3C2_ENST00000511528.1_Missense_Mutation_p.R178C|NR3C2_ENST00000344721.4_Missense_Mutation_p.R178C|NR3C2_ENST00000355292.3_Missense_Mutation_p.R178C|NR3C2_ENST00000512865.1_Missense_Mutation_p.R178C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	178	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R178C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ACAACGGCGCGCATGACGCCA	0.502																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			1	Substitution - Missense(1)	p.R178C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(532-534)Cgc>Tgc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	106.0	106.0		532,532	4.5	1.0	4		106	0,8600		0,0,4300	no	missense,missense	NR3C2	NM_000901.4,NM_001166104.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	178/985,178/868	149357481	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357481G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.532C>T	4.37:g.149357481G>A	ENSP00000350815:p.Arg178Cys					NR3C2_ENST00000342437.4_Missense_Mutation_p.R178C|NR3C2_ENST00000511528.1_Missense_Mutation_p.R178C|NR3C2_ENST00000512865.1_Missense_Mutation_p.R178C|NR3C2_ENST00000344721.4_Missense_Mutation_p.R178C|NR3C2_ENST00000358102.3_Missense_Mutation_p.R178C	p.R178C			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	894	-	all_hematologic(180;0.151)		178			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.532C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	9.405	1.078946	0.20227	2.27E-4	0.0	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.2;-2.21;-2.62	5.38	4.54	0.55810	.	0.688531	0.14729	N	0.301876	D	0.85737	0.5766	L	0.36672	1.1	0.42829	D	0.994014	B;D	0.61080	0.003;0.989	B;B	0.44163	0.001;0.443	T	0.82165	-0.0592	9	.	.	.	.	9.1999	0.37251	0.0738:0.0:0.7821:0.1441	.	178;178	B0ZBF5;B0ZBF6	.;.	C	178	ENSP00000341390:R178C;ENSP00000347441:R178C;ENSP00000350815:R178C;ENSP00000423510:R178C;ENSP00000343907:R178C;ENSP00000421481:R178C	.	R	-	1	0	NR3C2	149576931	1.000000	0.71417	0.964000	0.40570	0.154000	0.21943	4.934000	0.63491	1.265000	0.44215	0.467000	0.42956	CGC		0.502	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			5	145	0	0	0	1	0	5	145				
DNAH9	1770	broad.mit.edu	37	17	11572578	11572578	+	Splice_Site	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:11572578G>T	ENST00000262442.4	+	16	2996		c.e16+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCACTATCAGGTACTGGAGCT	0.547																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e16+1		dynein, axonemal, heavy chain 9							78.0	72.0	74.0					17																	11572578		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572578G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2928+1G>T	17.37:g.11572578G>T						DNAH9_ENST00000454412.2_Splice_Site		NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2996	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37		CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427208	0.83667	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.599	0.95552	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH9	11513303	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.460000	0.97641	2.632000	0.89209	0.655000	0.94253	.		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	6	131	1	0	0.00116845	1	0.00118931	6	131				
EIF4G1	1981	broad.mit.edu	37	3	184039764	184039764	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:184039764A>G	ENST00000346169.2	+	10	1663	c.1392A>G	c.(1390-1392)gaA>gaG	p.E464E	EIF4G1_ENST00000350481.5_Silent_p.E300E|EIF4G1_ENST00000319274.6_Silent_p.E464E|EIF4G1_ENST00000342981.4_Silent_p.E464E|EIF4G1_ENST00000441154.1_Silent_p.E300E|EIF4G1_ENST00000382330.3_Silent_p.E471E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.E471E|EIF4G1_ENST00000434061.2_Silent_p.E268E|EIF4G1_ENST00000427845.1_Silent_p.E377E|EIF4G1_ENST00000435046.2_Silent_p.E268E|EIF4G1_ENST00000424196.1_Silent_p.E471E|EIF4G1_ENST00000392537.2_Silent_p.E377E|EIF4G1_ENST00000414031.1_Silent_p.E424E|EIF4G1_ENST00000411531.1_Silent_p.E424E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	464	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			aagaagaggaagaaggagaag	0.552																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1390-1392)gaA>gaG		eukaryotic translation initiation factor 4 gamma, 1							59.0	61.0	61.0					3																	184039764		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039764A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1392A>G	3.37:g.184039764A>G						EIF4G1_ENST00000414031.1_Silent_p.E424E|EIF4G1_ENST00000441154.1_Silent_p.E300E|EIF4G1_ENST00000352767.3_Silent_p.E471E|EIF4G1_ENST00000435046.2_Silent_p.E268E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.E424E|EIF4G1_ENST00000392537.2_Silent_p.E377E|EIF4G1_ENST00000346169.2_Silent_p.E464E|EIF4G1_ENST00000350481.5_Silent_p.E300E|EIF4G1_ENST00000424196.1_Silent_p.E471E|EIF4G1_ENST00000319274.6_Silent_p.E464E|EIF4G1_ENST00000382330.3_Silent_p.E471E|EIF4G1_ENST00000427845.1_Silent_p.E377E|EIF4G1_ENST00000434061.2_Silent_p.E268E	p.E464E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1806	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		464			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.1392A>G	CCDS3259.1																																																																																				0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		3	77	0	0	0	1	0	3	77				
APP	351	broad.mit.edu	37	21	27284152	27284152	+	Missense_Mutation	SNP	C	C	T	rs199887707		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:27284152C>T	ENST00000346798.3	-	14	1843	c.1810G>A	c.(1810-1812)Gtg>Atg	p.V604M	APP_ENST00000354192.3_Missense_Mutation_p.V473M|APP_ENST00000440126.3_Missense_Mutation_p.V580M|APP_ENST00000439274.2_Missense_Mutation_p.V548M|APP_ENST00000348990.5_Missense_Mutation_p.V529M|APP_ENST00000358918.3_Missense_Mutation_p.V604M|APP_ENST00000359726.3_Missense_Mutation_p.V548M|APP_ENST00000357903.3_Missense_Mutation_p.V585M|APP_ENST00000448388.2_Missense_Mutation_p.V494M	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	604					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGAGCTCCACGGTGGTTTTC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17957	0.001		0.0	False		,,,				2504	0.0					ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1810-1812)Gtg>Atg		amyloid beta (A4) precursor protein		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	164.0	126.0	139.0		1810,1738,1417,1642,1480,1810,1753,1585,1753,1585	4.6	1.0	21		139	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	APP	NM_000484.3,NM_001136016.3,NM_001136129.2,NM_001136130.2,NM_001136131.2,NM_001204301.1,NM_001204302.1,NM_001204303.1,NM_201413.2,NM_201414.2	21,21,21,21,21,21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	604/771,580/747,473/640,548/715,494/661,604/753,585/734,529/678,585/752,529/696	27284152	2,13004	2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27284152C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1810G>A	21.37:g.27284152C>T	ENSP00000284981:p.Val604Met					APP_ENST00000448388.2_Missense_Mutation_p.V494M|APP_ENST00000354192.3_Missense_Mutation_p.V473M|APP_ENST00000346798.3_Missense_Mutation_p.V604M|APP_ENST00000440126.3_Missense_Mutation_p.V580M|APP_ENST00000439274.2_Missense_Mutation_p.V548M|APP_ENST00000359726.3_Missense_Mutation_p.V548M|APP_ENST00000357903.3_Missense_Mutation_p.V585M|APP_ENST00000348990.5_Missense_Mutation_p.V529M	p.V604M	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			14	2009	-		Breast(209;0.00295)	604					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1810G>A	CCDS13576.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.34	3.809449	0.70797	0.0	2.33E-4	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.96265	-2.02;-3.96;-3.96;-2.02;-1.89;-3.96;-3.96;-2.03;-2.02;-2.78	4.61	4.61	0.57282	.	0.339703	0.31897	N	0.006897	D	0.97108	0.9055	L	0.46157	1.445	0.54753	D	0.999987	P;P;D;P;D;D;P	0.76494	0.622;0.474;0.998;0.74;0.999;0.999;0.474	B;B;D;B;D;D;B	0.76071	0.067;0.067;0.971;0.142;0.987;0.987;0.067	D	0.97137	0.9822	10	0.49607	T	0.09	-24.2276	17.5839	0.87976	0.0:1.0:0.0:0.0	.	494;548;580;473;529;585;604	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	M	604;473;529;585;604;548;494;580;548;191	ENSP00000284981:V604M;ENSP00000346129:V473M;ENSP00000345463:V529M;ENSP00000350578:V585M;ENSP00000351796:V604M;ENSP00000352760:V548M;ENSP00000388538:V494M;ENSP00000387483:V580M;ENSP00000398879:V548M;ENSP00000397795:V191M	ENSP00000284981:V604M	V	-	1	0	APP	26206023	0.997000	0.39634	0.965000	0.40720	0.910000	0.53928	3.896000	0.56266	2.561000	0.86390	0.561000	0.74099	GTG		0.502	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		10	128	0	0	0	1	0	10	128				
GJC2	57165	broad.mit.edu	37	1	228345674	228345674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:228345674C>T	ENST00000366714.2	+	2	390	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GACGCCTTCGCGCCCCTGTCG	0.657																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(214-216)gCg>gTg		gap junction protein, gamma 2, 47kDa							57.0	44.0	48.0					1																	228345674		2203	4300	6503	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345674C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.215C>T	1.37:g.228345674C>T	ENSP00000355675:p.Ala72Val						p.A72V	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	390	+		Prostate(94;0.0405)	72					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.215C>T	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516528	0.64634	.	.	ENSG00000198835	ENST00000366714	D	0.99136	-5.47	3.95	3.95	0.45737	Connexin, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.99309	0.9758	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98959	1.0797	10	0.41790	T	0.15	.	16.1609	0.81704	0.0:1.0:0.0:0.0	.	72	Q5T442	CXG2_HUMAN	V	72	ENSP00000355675:A72V	ENSP00000355675:A72V	A	+	2	0	GJC2	226412297	1.000000	0.71417	0.983000	0.44433	0.103000	0.19146	7.416000	0.80143	2.050000	0.60909	0.313000	0.20887	GCG		0.657	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		9	23	0	0	0	1	0	9	23				
NUDT21	11051	broad.mit.edu	37	16	56473619	56473619	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:56473619T>A	ENST00000300291.5	-	4	593	c.421A>T	c.(421-423)Att>Ttt	p.I141F		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	141	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAATCGTCAATGACCCAGTCT	0.418																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(421-423)Att>Ttt		nudix (nucleoside diphosphate linked moiety X)-type motif 21							187.0	187.0	187.0					16																	56473619		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56473619T>A	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.421A>T	16.37:g.56473619T>A	ENSP00000300291:p.Ile141Phe						p.I141F	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			4	593	-			141			Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.421A>T	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	33	5.209532	0.95069	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.65	5.65	0.86999	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.83505	0.5269	M	0.89095	3.005	0.80722	D	1	D	0.60160	0.987	D	0.63597	0.916	D	0.87000	0.2116	9	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	.	141	O43809	CPSF5_HUMAN	F	141	.	ENSP00000300291:I141F	I	-	1	0	NUDT21	55031120	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.027000	0.88791	2.151000	0.67156	0.460000	0.39030	ATT		0.418	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		9	285	0	0	0	1	0	9	285				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	557	0	0	0	1	0	8	557				
DCHS1	8642	broad.mit.edu	37	11	6650809	6650809	+	Splice_Site	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:6650809C>T	ENST00000299441.3	-	12	5447		c.e12-1		RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGTTGGCCCCTGAGGAGGGG	0.562																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.e12-1		dachsous cadherin-related 1							54.0	52.0	53.0					11																	6650809		2201	4296	6497	SO:0001630	splice_region_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650809C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5036-1G>A	11.37:g.6650809C>T								NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	12	5447	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)						O15098	Splice_Site	SNP	ENST00000299441.3	37		CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142552	0.77888	.	.	ENSG00000166341	ENST00000299441	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.482	0.75534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCHS1	6607385	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.897000	0.75671	2.687000	0.91594	0.563000	0.77884	.		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	Intron	3	51	0	0	0	1	0	3	51				
TIAM2	26230	broad.mit.edu	37	6	155500201	155500201	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:155500201G>T	ENST00000461783.3	+	13	3825	c.2552G>T	c.(2551-2553)gGc>gTc	p.G851V	TIAM2_ENST00000456877.2_Missense_Mutation_p.G163V|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227V|TIAM2_ENST00000360366.4_Missense_Mutation_p.G875V|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851V|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851V|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187V|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	851	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCATTATGGCCTACAGCTT	0.373																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2551-2553)gGc>gTc		T-cell lymphoma invasion and metastasis 2							116.0	105.0	109.0					6																	155500201		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500201G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2552G>T	6.37:g.155500201G>T	ENSP00000437188:p.Gly851Val					TIAM2_ENST00000360366.4_Missense_Mutation_p.G875V|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851V|TIAM2_ENST00000456877.2_Missense_Mutation_p.G163V|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227V|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187V|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851V|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851V	p.G851V			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	13	3825	+		Ovarian(120;0.196)	851			RBD.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2552G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839871	0.32513	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.04809	3.71;3.62;3.68;3.71;3.56;3.72;3.68;3.55;3.56	5.33	5.33	0.75918	Raf-like Ras-binding (2);	0.124357	0.56097	D	0.000034	T	0.03348	0.0097	L	0.46157	1.445	0.80722	D	1	B;B;P;B	0.35033	0.002;0.298;0.481;0.198	B;B;B;B	0.32583	0.04;0.109;0.148;0.051	T	0.42565	-0.9444	10	0.52906	T	0.07	.	17.5931	0.88003	0.0:0.0:1.0:0.0	.	187;851;875;851	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	851;1097;851;851;851;227;875;851;163;187	ENSP00000437188:G851V;ENSP00000434901:G851V;ENSP00000407746:G851V;ENSP00000327315:G851V;ENSP00000356142:G227V;ENSP00000353528:G875V;ENSP00000433348:G851V;ENSP00000407183:G163V;ENSP00000435335:G187V	ENSP00000327315:G851V	G	+	2	0	TIAM2	155541893	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.746000	0.68681	2.652000	0.90054	0.655000	0.94253	GGC		0.373	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		24	55	1	0	1.64293e-13	1	1.83622e-13	24	55				
MYLK	4638	broad.mit.edu	37	3	123512527	123512527	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:123512527C>T	ENST00000475616.1	-	1	161	c.162G>A	c.(160-162)ggG>ggA	p.G54G	MYLK_ENST00000346322.5_Silent_p.G54G|MYLK_ENST00000360304.3_Silent_p.G54G|MYLK_ENST00000359169.1_Silent_p.G54G|MYLK_ENST00000360772.3_Silent_p.G54G			Q15746	MYLK_HUMAN	myosin light chain kinase	54	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTTACCCGCCCTTCGAACT	0.592																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(160-162)ggG>ggA		myosin light chain kinase							40.0	40.0	40.0					3																	123512527		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123512527C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.162G>A	3.37:g.123512527C>T						MYLK_ENST00000346322.5_Silent_p.G54G|MYLK_ENST00000475616.1_Silent_p.G54G|MYLK_ENST00000359169.1_Silent_p.G54G|MYLK_ENST00000360304.3_Silent_p.G54G	p.G54G			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	5	540	-		Lung NSC(201;0.0496)	54			Ig-like C2-type 1.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.162G>A	CCDS46896.1																																																																																				0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		27	40	0	0	0	1	0	27	40				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	222	0	0	0	1	0	5	222				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	33	0	0	0	1	0	4	33				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	528	0	0	0	1	0	8	528				
LAMA1	284217	broad.mit.edu	37	18	7046310	7046310	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:7046310A>T	ENST00000389658.3	-	6	918	c.825T>A	c.(823-825)caT>caA	p.H275Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	275	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGCTACTAGCATGGCCATAGC	0.313																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(823-825)caT>caA		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	105.0	104.0					18																	7046310		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7046310A>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.825T>A	18.37:g.7046310A>T	ENSP00000374309:p.His275Gln						p.H275Q	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			6	918	-		Colorectal(10;0.172)	275			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.825T>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471386	0.63737	.	.	ENSG00000101680	ENST00000389658	T	0.65732	-0.17	5.58	0.646	0.17789	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	H	0.94306	3.52	0.49915	D	0.999832	D	0.89917	1.0	D	0.91635	0.999	T	0.82010	-0.0669	10	0.56958	D	0.05	.	10.3732	0.44066	0.5867:0.0:0.4133:0.0	.	275	P25391	LAMA1_HUMAN	Q	275	ENSP00000374309:H275Q	ENSP00000374309:H275Q	H	-	3	2	LAMA1	7036310	0.948000	0.32251	0.997000	0.53966	0.815000	0.46073	0.177000	0.16801	0.153000	0.19213	-0.297000	0.09499	CAT		0.313	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	81	0	0	0	1	0	4	81				
RAPGEFL1	51195	broad.mit.edu	37	17	38349977	38349977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:38349977G>T	ENST00000456989.2	+	15	1519	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q436H|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.Q436H|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q485H			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	642	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCAGTTTCAGGTCATCGACA	0.577																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(1306-1308)caG>caT		Rap guanine nucleotide exchange factor (GEF)-like 1							160.0	121.0	134.0					17																	38349977		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38349977G>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1473G>T	17.37:g.38349977G>T	ENSP00000394530:p.Gln491His					RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q491H|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q485H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q436H	p.Q436H	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			15	1798	+			642			Ras-GEF.			Missense_Mutation	SNP	ENST00000456989.2	37	c.1308G>T		.	.	.	.	.	.	.	.	.	.	G	10.53	1.375991	0.24857	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.30981	1.51;1.51;1.51	5.48	4.52	0.55395	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.26629	0.0651	N	0.04132	-0.27	0.58432	D	0.99999	B;D	0.61697	0.017;0.99	B;D	0.70487	0.019;0.969	T	0.13522	-1.0506	10	0.22706	T	0.39	.	7.666	0.28432	0.2477:0.0:0.7523:0.0	.	372;642	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	H	491;485;436;641;436	ENSP00000394530:Q491H;ENSP00000438631:Q485H;ENSP00000408322:Q436H	ENSP00000264644:Q641H	Q	+	3	2	RAPGEFL1	35603503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.453000	0.35167	1.320000	0.45209	0.561000	0.74099	CAG		0.577	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		3	67	1	0	2.56e-06	1	2.80615e-06	3	67				
VIM	7431	broad.mit.edu	37	10	17276782	17276782	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:17276782T>C	ENST00000224237.5	+	5	1118	c.973T>C	c.(973-975)Tcc>Ccc	p.S325P	VIM_ENST00000544301.1_Missense_Mutation_p.S325P|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	325	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGGTGCAGTCCCTCACCTG	0.532																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(973-975)Tcc>Ccc		vimentin							81.0	73.0	76.0					10																	17276782		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276782T>C	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.973T>C	10.37:g.17276782T>C	ENSP00000224237:p.Ser325Pro					RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.S325P	p.S325P	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			6	1386	+			325			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.973T>C	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556898	0.65425	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.90004	-2.6;-2.6;-2.6	6.05	4.9	0.64082	Filament (1);	0.153105	0.30483	N	0.009524	D	0.91831	0.7415	M	0.91300	3.195	0.49798	D	0.999827	B;B;B;B	0.24132	0.08;0.091;0.091;0.098	B;B;B;B	0.35688	0.132;0.097;0.097;0.208	D	0.89501	0.3764	10	0.54805	T	0.06	.	10.3227	0.43775	0.3738:0.0:0.0:0.6262	.	312;312;325;325	F5H288;B3KRK8;B0YJC4;P08670	.;.;.;VIME_HUMAN	P	325;325;312;151	ENSP00000446007:S325P;ENSP00000224237:S325P;ENSP00000391842:S151P	ENSP00000224237:S325P	S	+	1	0	VIM	17316788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.364000	0.34171	1.092000	0.41356	0.519000	0.50382	TCC		0.532	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		9	97	0	0	0	1	0	9	97				
C19orf57	79173	broad.mit.edu	37	19	14001063	14001063	+	Silent	SNP	G	G	A	rs374898954		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:14001063G>A	ENST00000586783.1	-	5	605	c.606C>T	c.(604-606)tcC>tcT	p.S202S	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S202S|C19orf57_ENST00000454313.1_Silent_p.S202S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	202					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGTGAGGCGGACAACCCCG	0.647																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(604-606)tcC>tcT		chromosome 19 open reading frame 57		G		1,4405	2.1+/-5.4	0,1,2202	100.0	87.0	91.0		606	-4.9	0.0	19		91	0,8600		0,0,4300	no	coding-synonymous	C19orf57	NM_024323.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		202/638	14001063	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14001063G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.606C>T	19.37:g.14001063G>A						C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.S202S|C19orf57_ENST00000346736.2_Silent_p.S202S	p.S202S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	664	-			202					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.606C>T																																																																																					0.647	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		8	126	0	0	0	1	0	8	126				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	57	0	0	0	1	0	48	57				
ANO3	63982	broad.mit.edu	37	11	26669404	26669404	+	Splice_Site	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:26669404G>C	ENST00000256737.3	+	24	3428		c.e24+1		ANO3_ENST00000531568.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site|ANO3_ENST00000525139.1_Splice_Site	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAGTGAAAAGTAAGGTTTAA	0.323																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.e24+1		anoctamin 3							86.0	79.0	81.0					11																	26669404		2203	4299	6502	SO:0001630	splice_region_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26669404G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2576+1G>C	11.37:g.26669404G>C						ANO3_ENST00000531568.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site|ANO3_ENST00000525139.1_Splice_Site		NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			24	3428	+								B7Z3F5	Splice_Site	SNP	ENST00000256737.3	37		CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640415	0.47153	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4297	0.94759	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO3	26625980	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	9.617000	0.98361	2.699000	0.92147	0.650000	0.86243	.		0.323	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	Intron	23	45	0	0	0	1	0	23	45				
RUFY2	55680	broad.mit.edu	37	10	70141155	70141155	+	Splice_Site	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	ENST00000602465.1	-	11	1041	c.941A>G	c.(940-942)gAt>gGt	p.D314G	RUFY2_ENST00000399200.2_Splice_Site_p.D280G|RUFY2_ENST00000388768.2_Splice_Site_p.D349G|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Splice_Site_p.D256G			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	363						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.e11-1		RUN and FYVE domain containing 2							211.0	190.0	196.0					10																	70141155		1893	4117	6010	SO:0001630	splice_region_variant	55680					nucleus	metal ion binding	g.chr10:70141155T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.940-1A>G	10.37:g.70141155T>C						RUFY2_ENST00000399200.2_Splice_Site_p.D280_splice|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Splice_Site_p.D314_splice|RUFY2_ENST00000454950.2_Splice_Site_p.D256_splice	p.D349_splice	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			11	1372	-			363					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Splice_Site	SNP	ENST00000602465.1	37	c.1044_splice		.	.	.	.	.	.	.	.	.	.	T	26.3	4.727002	0.89390	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.55052	0.54;1.72;1.34	5.46	5.46	0.80206	.	0.050220	0.85682	D	0.000000	T	0.69663	0.3136	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.996;0.996;0.998;0.999	P;D;D;D	0.79784	0.877;0.993;0.942;0.96	T	0.71020	-0.4713	10	0.52906	T	0.07	.	15.6873	0.77421	0.0:0.0:0.0:1.0	.	256;314;280;349	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	G	349;280;256	ENSP00000373420:D349G;ENSP00000382151:D280G;ENSP00000404986:D256G	ENSP00000373420:D349G	D	-	2	0	RUFY2	69811161	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.742000	0.68646	2.289000	0.77006	0.482000	0.46254	GAT		0.358	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987	Missense_Mutation	70	78	0	0	0	1	0	70	78				
YLPM1	56252	broad.mit.edu	37	14	75296015	75296015	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:75296015A>G	ENST00000552421.1	+	18	4269	c.4145A>G	c.(4144-4146)gAt>gGt	p.D1382G	YLPM1_ENST00000325680.7_Missense_Mutation_p.D2088G			P49750	YLPM1_HUMAN	YLP motif containing 1	1893					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGATTATGATACTCGTGCT	0.468																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(6262-6264)gAt>gGt		YLP motif containing 1							152.0	142.0	145.0					14																	75296015		1915	4141	6056	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75296015A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4145A>G	14.37:g.75296015A>G	ENSP00000447921:p.Asp1382Gly					YLPM1_ENST00000552421.1_Missense_Mutation_p.D1382G	p.D2088G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	19	6387	+			1893					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.6263A>G		.	.	.	.	.	.	.	.	.	.	A	12.66	2.005940	0.35415	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.79	5.79	0.91817	.	0.086438	0.49305	D	0.000143	T	0.54647	0.1871	L	0.39898	1.24	0.80722	D	1	B	0.25105	0.118	B	0.17098	0.017	T	0.51317	-0.8721	9	0.41790	T	0.15	-6.2783	16.1222	0.81365	1.0:0.0:0.0:0.0	.	2088	P49750-4	.	G	1382;2088;1801	.	ENSP00000324463:D2088G	D	+	2	0	YLPM1	74365768	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	6.309000	0.72825	2.199000	0.70637	0.455000	0.32223	GAT		0.468	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	52	0	0	0	1	0	3	52				
ECT2	1894	broad.mit.edu	37	3	172533496	172533496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:172533496A>G	ENST00000392692.3	+	23	2679	c.2503A>G	c.(2503-2505)Aaa>Gaa	p.K835E	ECT2_ENST00000540509.1_Missense_Mutation_p.K835E|ECT2_ENST00000417960.1_Missense_Mutation_p.K803E|ECT2_ENST00000441497.2_Missense_Mutation_p.K804E|ECT2_ENST00000232458.5_Missense_Mutation_p.K804E|ECT2_ENST00000427830.1_Missense_Mutation_p.K804E	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	835					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAGACTTCAAAAAAGGTGAG	0.299																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2407-2409)Aaa>Gaa		epithelial cell transforming sequence 2 oncogene							60.0	67.0	65.0					3																	172533496		2198	4285	6483	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172533496A>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2503A>G	3.37:g.172533496A>G	ENSP00000376457:p.Lys835Glu					ECT2_ENST00000540509.1_Missense_Mutation_p.K835E|ECT2_ENST00000427830.1_Missense_Mutation_p.K804E|ECT2_ENST00000392692.3_Missense_Mutation_p.K835E|ECT2_ENST00000441497.2_Missense_Mutation_p.K804E|ECT2_ENST00000232458.5_Missense_Mutation_p.K804E	p.K803E	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		23	2884	+	Ovarian(172;0.00197)|Breast(254;0.158)		804					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2407A>G	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.367565|4.367565	0.82463|0.82463	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.65364|.	-0.12;-0.15;-0.14;-0.12;-0.12;-0.15|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	P;P;D;D;P|.	0.58970|.	0.94;0.893;0.984;0.964;0.935|.	P;P;P;P;P|.	0.58454|.	0.694;0.621;0.839;0.839;0.839|.	T|T	0.70726|0.70726	-0.4793|-0.4793	10|6	0.46703|.	T|.	0.11|.	-24.8274|-24.8274	15.8391|15.8391	0.78831|0.78831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	835;280;835;804;803|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	E|R	804;835;804;803;804;835|174	ENSP00000232458:K804E;ENSP00000376457:K835E;ENSP00000401910:K804E;ENSP00000415876:K803E;ENSP00000412259:K804E;ENSP00000443160:K835E|.	ENSP00000232458:K804E|.	K|K	+|+	1|2	0|0	ECT2|ECT2	174016190|174016190	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.924000|0.924000	0.55760|0.55760	8.740000|8.740000	0.91579|0.91579	2.134000|2.134000	0.65973|0.65973	0.482000|0.482000	0.46254|0.46254	AAA|AAA		0.299	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		4	81	0	0	0	1	0	4	81				
DNMT3L	29947	broad.mit.edu	37	21	45666317	45666317	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:45666317A>C	ENST00000418993.1	-	12	1607	c.1124T>G	c.(1123-1125)tTc>tGc	p.F375C	DNMT3L_ENST00000270172.3_Missense_Mutation_p.F376C	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	375					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AAAATACTTGAAATATTCTCT	0.448																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(1126-1128)tTc>tGc		DNA (cytosine-5-)-methyltransferase 3-like							68.0	77.0	74.0					21																	45666317		2203	4300	6503	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666317A>C	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1124T>G	21.37:g.45666317A>C	ENSP00000412862:p.Phe375Cys					DNMT3L_ENST00000418993.1_Missense_Mutation_p.F375C	p.F376C	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1610	-			375					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.1127T>G	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.41|15.41	2.826479|2.826479	0.50739|0.50739	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	D;D|.	0.86230|.	-2.09;-2.07|.	4.07|4.07	2.85|2.85	0.33270|0.33270	.|.	0.231475|.	0.35349|.	N|.	0.003269|.	T|T	0.52273|0.52273	0.1724|0.1724	M|M	0.72894|0.72894	2.215|2.215	0.29884|0.29884	N|N	0.825786|0.825786	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.51466|0.51466	-0.8702|-0.8702	10|5	0.87932|.	D|.	0|.	-11.3501|-11.3501	6.7288|6.7288	0.23371|0.23371	0.7899:0.0:0.0:0.2101|0.7899:0.0:0.0:0.2101	.|.	376;375|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	C|A	376;375|170	ENSP00000270172:F376C;ENSP00000412862:F375C|.	ENSP00000270172:F376C|.	F|S	-|-	2|1	0|0	DNMT3L|DNMT3L	44490745|44490745	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.816000|0.816000	0.46133|0.46133	3.558000|3.558000	0.53749|0.53749	0.505000|0.505000	0.28104|0.28104	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.448	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		10	116	0	0	0	1	0	10	116				
OR8A1	390275	broad.mit.edu	37	11	124440334	124440334	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:124440334T>G	ENST00000284287.3	+	1	442	c.370T>G	c.(370-372)Ttt>Gtt	p.F124V		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	124					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTTCCTTGTTTTTGTCATTGC	0.463																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(370-372)Ttt>Gtt		olfactory receptor, family 8, subfamily A, member 1							173.0	149.0	157.0					11																	124440334		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440334T>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.370T>G	11.37:g.124440334T>G	ENSP00000284287:p.Phe124Val						p.F124V	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	442	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	124					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.370T>G	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259189	0.59321	.	.	ENSG00000196119	ENST00000284287	T	0.01347	4.99	5.03	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000213	T	0.05868	0.0153	M	0.77486	2.375	0.30495	N	0.771016	D	0.53885	0.963	P	0.56127	0.792	T	0.00945	-1.1505	10	0.87932	D	0	.	11.8449	0.52378	0.0:0.0:0.1466:0.8534	.	124	Q8NGG7	OR8A1_HUMAN	V	124	ENSP00000284287:F124V	ENSP00000284287:F124V	F	+	1	0	OR8A1	123945544	0.310000	0.24527	1.000000	0.80357	0.998000	0.95712	2.041000	0.41213	0.911000	0.36747	0.528000	0.53228	TTT		0.463	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		19	64	0	0	0	1	0	19	64				
ADRB1	153	broad.mit.edu	37	10	115804960	115804960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:115804960C>T	ENST00000369295.2	+	1	1155	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GGTGCCCGACCGCCTCTTCGT	0.627																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1069-1071)Cgc>Tgc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						30.0	21.0	24.0					10																	115804960		2186	4268	6454	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804960C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1069C>T	10.37:g.115804960C>T	ENSP00000358301:p.Arg357Cys						p.R357C	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1155	+		Colorectal(252;0.172)|Breast(234;0.188)	357					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.1069C>T	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492400	0.44352	.	.	ENSG00000043591	ENST00000369295	T	0.37752	1.18	3.81	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.405148	0.25283	U	0.031796	T	0.32255	0.0823	L	0.52905	1.665	0.36535	D	0.870957	D	0.67145	0.996	P	0.47044	0.535	T	0.32877	-0.9890	10	0.56958	D	0.05	.	3.0409	0.06138	0.3058:0.4503:0.1495:0.0944	.	357	P08588	ADRB1_HUMAN	C	357	ENSP00000358301:R357C	ENSP00000358301:R357C	R	+	1	0	ADRB1	115794950	0.859000	0.29813	0.995000	0.50966	0.841000	0.47740	0.080000	0.14802	0.190000	0.20209	0.484000	0.47621	CGC		0.627	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	31	0	0	0	1	0	3	31				
HMCN1	83872	broad.mit.edu	37	1	186097245	186097245	+	Silent	SNP	C	C	T	rs150757082	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:186097245C>T	ENST00000271588.4	+	83	12955	c.12726C>T	c.(12724-12726)aaC>aaT	p.N4242N	HMCN1_ENST00000367492.2_Silent_p.N4242N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4242	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTTGCTAACAATGCTGCAG	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12724-12726)aaC>aaT		hemicentin 1		C		0,4406		0,0,2203	113.0	102.0	105.0		12726	3.6	1.0	1	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HMCN1	NM_031935.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		4242/5636	186097245	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097245C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12726C>T	1.37:g.186097245C>T						HMCN1_ENST00000367492.2_Silent_p.N4242N	p.N4242N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			83	12955	+			4242			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.12726C>T	CCDS30956.1																																																																																				0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	77	0	0	0	1	0	28	77				
CST5	1473	broad.mit.edu	37	20	23860261	23860261	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:23860261G>C	ENST00000304710.4	-	1	126	c.53C>G	c.(52-54)gCc>gGc	p.A18G		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	18					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CCCGGCCACGGCCACCATCAA	0.592																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(52-54)gCc>gGc		cystatin D							67.0	63.0	64.0					20																	23860261		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860261G>C		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.53C>G	20.37:g.23860261G>C	ENSP00000307132:p.Ala18Gly						p.A18G	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	126	-			18					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.53C>G	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	g	1.084	-0.666037	0.03428	.	.	ENSG00000170367	ENST00000304710	T	0.11169	2.8	1.47	-2.94	0.05581	.	0.638034	0.15115	N	0.279710	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.46703	T	0.11	.	5.3735	0.16152	0.1549:0.3618:0.4833:0.0	.	18	P28325	CYTD_HUMAN	G	18	ENSP00000307132:A18G	ENSP00000307132:A18G	A	-	2	0	CST5	23808261	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.369000	0.07533	-1.750000	0.01328	-1.734000	0.00692	GCC		0.592	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		5	96	0	0	0	1	0	5	96				
CACNA1G	8913	broad.mit.edu	37	17	48703623	48703623	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	ENST00000359106.5	+	38	6645	c.6645A>G	c.(6643-6645)ttA>ttG	p.L2215L	CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000352832.5_Silent_p.L2088L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000502264.1_Silent_p.L2144L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2215					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6262-6264)ttA>ttG		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						43.0	52.0	49.0					17																	48703623		2015	4165	6180	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703623A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6645A>G	17.37:g.48703623A>G			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000512389.1_Silent_p.L2111L	p.L2088L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6636	+	Breast(11;6.7e-17)		2215					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.6264A>G	CCDS45730.1																																																																																				0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		33	42	0	0	0	1	0	33	42				
S100A11	6282	broad.mit.edu	37	1	152006246	152006246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152006246G>A	ENST00000271638.2	-	2	153	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	12					negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCGATGCACCGCTCAGTCTCT	0.458																																					Colon(152;1751 1834 12462 21158 46902)	ENST00000271638.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(34-36)Cgg>Tgg		S100 calcium binding protein A11							78.0	78.0	78.0					1																	152006246		2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152006246G>A	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.34C>T	1.37:g.152006246G>A	ENSP00000271638:p.Arg12Trp					S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	p.R12W	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		12					Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.34C>T	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417121	0.42918	.	.	ENSG00000163191	ENST00000271638	T	0.11385	2.78	4.97	2.89	0.33648	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000047	T	0.06735	0.0172	M	0.74467	2.265	0.45025	D	0.998041	B	0.14805	0.011	B	0.10450	0.005	T	0.04621	-1.0938	10	0.52906	T	0.07	.	10.3953	0.44196	0.0:0.0:0.6397:0.3603	.	12	P31949	S10AB_HUMAN	W	12	ENSP00000271638:R12W	ENSP00000271638:R12W	R	-	1	2	S100A11	150272870	0.997000	0.39634	0.998000	0.56505	0.971000	0.66376	1.379000	0.34340	1.152000	0.42452	0.462000	0.41574	CGG		0.458	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		4	101	0	0	0	1	0	4	101				
OR7A5	26659	broad.mit.edu	37	19	14938560	14938560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:14938560C>T	ENST00000322301.3	-	2	581	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	OR7A5_ENST00000594432.1_Missense_Mutation_p.R165Q|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	165					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GAAGGACAGCCGTACTACCAT	0.443																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(493-495)cGg>cAg		olfactory receptor, family 7, subfamily A, member 5							71.0	67.0	68.0					19																	14938560		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938560C>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.494G>A	19.37:g.14938560C>T	ENSP00000316955:p.Arg165Gln					OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R165Q	p.R165Q			Q15622	OR7A5_HUMAN			2	581	-			165					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.494G>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	9.201	1.028503	0.19512	.	.	ENSG00000188269	ENST00000322301	T	0.00145	8.67	3.13	-4.51	0.03483	GPCR, rhodopsin-like superfamily (1);	0.827227	0.09076	N	0.852031	T	0.00109	0.0003	L	0.28776	0.89	0.09310	N	1	B	0.23249	0.082	B	0.24394	0.053	T	0.03068	-1.1076	10	0.11182	T	0.66	.	9.3882	0.38356	0.0:0.313:0.0:0.687	.	165	Q15622	OR7A5_HUMAN	Q	165	ENSP00000316955:R165Q	ENSP00000316955:R165Q	R	-	2	0	OR7A5	14799560	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-4.168000	0.00281	-0.877000	0.04012	0.134000	0.15878	CGG		0.443	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		26	25	0	0	0	1	0	26	25				
CCDC122	160857	broad.mit.edu	37	13	44433897	44433897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:44433897G>A	ENST00000444614.3	-	5	724	c.466C>T	c.(466-468)Cga>Tga	p.R156*	CCDC122_ENST00000281508.3_Nonsense_Mutation_p.R156*|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	156										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ACAAAATCTCGCTTTTCATGG	0.318																																						ENST00000444614.3																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(466-468)Cga>Tga		coiled-coil domain containing 122							130.0	126.0	127.0					13																	44433897		2203	4297	6500	SO:0001587	stop_gained	160857							g.chr13:44433897G>A	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.466C>T	13.37:g.44433897G>A	ENSP00000407763:p.Arg156*					CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Nonsense_Mutation_p.R156*	p.R156*	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	5	724	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	156					B2RP70|B7ZMI9|Q96MV0	Nonsense_Mutation	SNP	ENST00000444614.3	37	c.466C>T	CCDS9390.2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752747	0.49362	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	.	.	.	5.86	0.324	0.15898	.	2.292810	0.01604	N	0.022196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.6193	5.061	0.14557	0.0769:0.1024:0.2387:0.582	.	.	.	.	X	156	.	ENSP00000281508:R156X	R	-	1	2	CCDC122	43331897	0.611000	0.26992	0.036000	0.18154	0.019000	0.09904	0.785000	0.26830	0.351000	0.24027	-0.302000	0.09304	CGA		0.318	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		11	170	0	0	0	1	0	11	170				
TBXA2R	6915	broad.mit.edu	37	19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:3600596G>A	ENST00000375190.4	-	2	430	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(37-39)Cgg>Tgg		thromboxane A2 receptor	Ridogrel(DB01207)						16.0	19.0	18.0					19																	3600596		1996	4140	6136	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600596G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.37C>T	19.37:g.3600596G>A	ENSP00000364336:p.Arg13Trp					TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W	p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	430	-		Hepatocellular(1079;0.137)	13					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.37C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976389	0.53720	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.37058	1.22;1.22	4.52	3.44	0.39384	.	0.188498	0.37095	U	0.002250	T	0.44180	0.1281	L	0.29908	0.895	0.36838	D	0.887221	D;D	0.89917	1.0;1.0	D;D	0.69142	0.912;0.962	T	0.50717	-0.8795	10	0.51188	T	0.08	-36.1729	11.6923	0.51523	0.0:0.0:0.8212:0.1788	.	13;13	P21731;E2QRJ2	TA2R_HUMAN;.	W	13	ENSP00000393333:R13W;ENSP00000364336:R13W	ENSP00000364336:R13W	R	-	1	2	TBXA2R	3551596	1.000000	0.71417	0.999000	0.59377	0.317000	0.28152	1.406000	0.34646	0.981000	0.38548	0.298000	0.19748	CGG		0.667	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			20	19	0	0	0	1	0	20	19				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	123	0	0	0	1	0	4	123				
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T	rs200002496		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R263W(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(787-789)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							163.0	159.0	161.0					6																	30884915		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884915C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.787C>T	6.37:g.30884915C>T	ENSP00000316092:p.Arg263Trp					VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W	p.R263W			Q5ST30	SYVM_HUMAN			8	1419	+			263					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.787C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202930	0.79127	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137660	0.47852	D	0.000201	T	0.63873	0.2548	M	0.93106	3.38	0.41300	D	0.987033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.73388	-0.3998	10	0.87932	D	0	-6.0214	15.7772	0.78232	0.0:1.0:0.0:0.0	.	263;293;263	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	263;263;123;263;293	ENSP00000316092:R263W;ENSP00000394802:R263W;ENSP00000438200:R123W;ENSP00000403749:R263W;ENSP00000441000:R293W	ENSP00000316092:R263W	R	+	1	2	VARS2	30992894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.036000	0.49767	2.581000	0.87130	0.655000	0.94253	CGG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	146	0	0	0	1	0	4	146				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	196	0	0	0	1	0	4	196				
FAM69B	138311	broad.mit.edu	37	9	139612118	139612118	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139612118G>A	ENST00000371692.4	+	2	249	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGCACTACTCGTCCTACTCGG	0.657																																						ENST00000371692.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(151-153)tcG>tcA		family with sequence similarity 69, member B							109.0	87.0	95.0					9																	139612118		2201	4300	6501	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139612118G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.153G>A	9.37:g.139612118G>A							p.S51S	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	2	249	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	51					Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.153G>A	CCDS7004.1																																																																																				0.657	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		23	13	0	0	0	1	0	23	13				
ADAM21P1	145241	broad.mit.edu	37	14	70713472	70713472	+	RNA	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:70713472T>C	ENST00000530196.1	-	0	1046					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TACTTATAAGTGAATTTTTTA	0.388																																						ENST00000530196.1																			0																																																			0							g.chr14:70713472T>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713472T>C								NR_003951.1						0	1046	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.388	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		8	82	0	0	0	1	0	8	82				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	156	0	0	0	1	0	4	156				
FRY	10129	broad.mit.edu	37	13	32705839	32705839	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:32705839G>A	ENST00000380250.3	+	8	1243	c.747G>A	c.(745-747)gcG>gcA	p.A249A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	249						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTTATGGCGGAGCTAAAAG	0.383																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(745-747)gcG>gcA		furry homolog (Drosophila)							101.0	93.0	95.0					13																	32705839		1817	4082	5899	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32705839G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.747G>A	13.37:g.32705839G>A							p.A249A	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	8	1243	+		Lung SC(185;0.0271)	249					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.747G>A	CCDS41875.1																																																																																				0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		50	40	0	0	0	1	0	50	40				
RAPGEF6	51735	broad.mit.edu	37	5	130791643	130791643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:130791643T>C	ENST00000509018.1	-	20	3132	c.2927A>G	c.(2926-2928)tAc>tGc	p.Y976C	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Y981C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Y976C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Y1026C|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Y691C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	976	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGTTTCTCGTATTTGCTTGG	0.363																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2926-2928)tAc>tGc		Rap guanine nucleotide exchange factor (GEF) 6							130.0	122.0	124.0					5																	130791643		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130791643T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2927A>G	5.37:g.130791643T>C	ENSP00000421684:p.Tyr976Cys					RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Y691C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Y981C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Y976C|FNIP1_ENST00000514667.1_Missense_Mutation_p.Y1026C	p.Y976C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	20	3132	-			976			Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2927A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274609	0.80580	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.2	5.2	0.72013	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.971;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.97110	0.999;0.845;0.998;1.0;0.999;0.999;0.999	T	0.72503	-0.4273	10	0.87932	D	0	.	15.3554	0.74423	0.0:0.0:0.0:1.0	.	976;976;976;691;1026;981;976	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	C	976;981;976;976;981;691;976;1026	ENSP00000421684:Y976C;ENSP00000309298:Y981C;ENSP00000426081:Y976C;ENSP00000296859:Y976C;ENSP00000426910:Y691C;ENSP00000311419:Y976C;ENSP00000426948:Y1026C	ENSP00000426948:Y1026C	Y	-	2	0	RAPGEF6;FNIP1	130819542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.094000	0.63399	0.482000	0.46254	TAC		0.363	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		4	107	0	0	0	1	0	4	107				
ZNF446	55663	broad.mit.edu	37	19	58989509	58989509	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:58989509A>G	ENST00000594369.1	+	4	969	c.588A>G	c.(586-588)caA>caG	p.Q196Q	CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.Q196Q|ZNF446_ENST00000335841.4_Silent_p.Q196Q	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	196					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ATGGACACCAAGAACCAGCCT	0.612																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(586-588)caA>caG		zinc finger protein 446							134.0	102.0	113.0					19																	58989509		2203	4300	6503	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58989509A>G		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.588A>G	19.37:g.58989509A>G						ZNF446_ENST00000335841.4_Silent_p.Q196Q|ZNF446_ENST00000594369.1_Silent_p.Q196Q	p.Q196Q			Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2808	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	196						Silent	SNP	ENST00000594369.1	37	c.588A>G	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.302272	0.40694	.	.	ENSG00000083838	ENST00000391694	.	.	.	4.31	-0.266	0.12942	.	.	.	.	.	T	0.23330	0.0564	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29640	-1.0005	5	0.23302	T	0.38	-5.8325	6.3146	0.21184	0.4851:0.0:0.5149:0.0	.	.	.	.	R	26	.	ENSP00000375576:K26R	K	+	2	0	ZNF446	63681321	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-0.053000	0.11846	0.034000	0.15491	-0.366000	0.07423	AAG		0.612	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		4	20	0	0	0	1	0	4	20				
FBXW10	10517	broad.mit.edu	37	17	18675981	18675981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18675981G>A	ENST00000395665.4	+	12	2484	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	FBXW10_ENST00000308799.4_Missense_Mutation_p.A784T|FBXW10_ENST00000301938.4_Missense_Mutation_p.A702T|FBXW10_ENST00000395667.1_Missense_Mutation_p.A755T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	755										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCTGAAGCCGGCCAAGTTCTC	0.527																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2350-2352)Gcc>Acc		F-box and WD repeat domain containing 10							86.0	97.0	93.0					17																	18675981		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18675981G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2263G>A	17.37:g.18675981G>A	ENSP00000379025:p.Ala755Thr					FBXW10_ENST00000301938.4_Missense_Mutation_p.A702T|FBXW10_ENST00000395665.4_Missense_Mutation_p.A755T|FBXW10_ENST00000395667.1_Missense_Mutation_p.A755T	p.A784T			Q5XX13	FBW10_HUMAN			11	2569	+			755					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2350G>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	4.051	0.007214	0.07866	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61742	0.12;0.37;0.08;0.24	3.89	-6.48	0.01896	.	1.461070	0.05427	N	0.545337	T	0.27205	0.0667	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.13594	0.008;0.008;0.001;0.002	B;B;B;B	0.10450	0.005;0.003;0.002;0.003	T	0.31779	-0.9931	10	0.02654	T	1	.	3.9886	0.09527	0.4133:0.0:0.1963:0.3904	.	702;784;755;755	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	T	755;784;702;755	ENSP00000379026:A755T;ENSP00000310382:A784T;ENSP00000306937:A702T;ENSP00000379025:A755T	ENSP00000306937:A702T	A	+	1	0	FBXW10	18616706	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.098000	0.03346	-1.351000	0.02197	-0.251000	0.11542	GCC		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	161	0	0	0	1	0	5	161				
GPR18	2841	broad.mit.edu	37	13	99907388	99907388	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:99907388G>C	ENST00000340807.3	-	3	1295	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247A|GPR18_ENST00000397470.2_Missense_Mutation_p.P247A			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(739-741)Ccc>Gcc		G protein-coupled receptor 18	Glycine(DB00145)						200.0	151.0	168.0					13																	99907388		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907388G>C	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.739C>G	13.37:g.99907388G>C	ENSP00000343428:p.Pro247Ala					GPR18_ENST00000397473.2_Missense_Mutation_p.P247A|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247A|UBAC2_ENST00000403766.3_Intron	p.P247A			Q14330	GPR18_HUMAN			3	1295	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.739C>G	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519135	0.85495	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.80214	-1.35;-1.35;-1.35	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	9	.	.	.	-21.4099	20.2187	0.98312	0.0:0.0:1.0:0.0	.	247	Q14330	GPR18_HUMAN	A	247	ENSP00000380613:P247A;ENSP00000380610:P247A;ENSP00000343428:P247A	.	P	-	1	0	GPR18	98705389	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CCC		0.527	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			26	87	0	0	0	1	0	26	87				
FAM135A	57579	broad.mit.edu	37	6	71187016	71187016	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:71187016C>A	ENST00000418814.2	+	8	1137	c.523C>A	c.(523-525)Cta>Ata	p.L175I	FAM135A_ENST00000361499.3_Missense_Mutation_p.L175I|FAM135A_ENST00000505868.1_Missense_Mutation_p.L175I|FAM135A_ENST00000457062.2_Missense_Mutation_p.L132I|FAM135A_ENST00000370479.3_Missense_Mutation_p.L132I|FAM135A_ENST00000505769.1_Missense_Mutation_p.L175I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	175										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTGGTTGCACTACACCAGCC	0.348																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(523-525)Cta>Ata		family with sequence similarity 135, member A							89.0	84.0	85.0					6																	71187016		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71187016C>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.523C>A	6.37:g.71187016C>A	ENSP00000410768:p.Leu175Ile					FAM135A_ENST00000361499.3_Missense_Mutation_p.L175I|FAM135A_ENST00000505769.1_Missense_Mutation_p.L175I|FAM135A_ENST00000457062.2_Missense_Mutation_p.L132I|FAM135A_ENST00000370479.3_Missense_Mutation_p.L132I|FAM135A_ENST00000505868.1_Missense_Mutation_p.L175I	p.L175I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			8	1137	+			175					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.523C>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919666	0.73098	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.26957	1.84;1.79;1.7;1.79;2.02;1.82	5.56	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.37812	0.1017	M	0.83953	2.67	0.33659	D	0.609418	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.991;0.984;0.996;0.996	T	0.43245	-0.9403	10	0.48119	T	0.1	.	9.4233	0.38563	0.0:0.7828:0.0:0.2172	.	175;175;175;175;132	Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	I	175;132;175;175;132;175;175	ENSP00000410768:L175I;ENSP00000359510:L132I;ENSP00000423785:L175I;ENSP00000409201:L132I;ENSP00000354913:L175I;ENSP00000423307:L175I	ENSP00000354913:L175I	L	+	1	2	FAM135A	71243737	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.084000	0.57650	0.723000	0.32274	0.460000	0.39030	CTA		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		5	75	1	0	3.59834e-05	1	3.83374e-05	5	75				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		10	141	0	0	0	1	0	10	141				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	104	0	0	0	1	0	4	104				
PIK3CA	5290	broad.mit.edu	37	3	178917496	178917496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:178917496C>T	ENST00000263967.3	+	3	528	c.371C>T	c.(370-372)cCa>cTa	p.P124L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	124					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P124L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCGGCATGCCAGTGTGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.P124L(2)	urinary_tract(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(370-372)cCa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							125.0	117.0	119.0					3																	178917496		1824	4076	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917496C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.371C>T	3.37:g.178917496C>T	ENSP00000263967:p.Pro124Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P124L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	528	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		124					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.371C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715073	0.68844	.	.	ENSG00000121879	ENST00000263967	T	0.42131	0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.56769	1.78	0.80722	D	1	P	0.45474	0.859	B	0.41917	0.37	T	0.43507	-0.9387	10	0.46703	T	0.11	-19.3283	20.1236	0.97970	0.0:1.0:0.0:0.0	.	124	P42336	PK3CA_HUMAN	L	124	ENSP00000263967:P124L	ENSP00000263967:P124L	P	+	2	0	PIK3CA	180400190	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.484000	0.81180	2.746000	0.94184	0.563000	0.77884	CCA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	92	0	0	0	1	0	4	92				
COLGALT2	23127	broad.mit.edu	37	1	183938441	183938441	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:183938441T>G	ENST00000361927.4	-	5	1165	c.794A>C	c.(793-795)gAt>gCt	p.D265A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D265A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	265					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AATGATGTCATCAAAGGTCCA	0.517																																						ENST00000361927.4																			0											c.(793-795)gAt>gCt		collagen beta(1-O)galactosyltransferase 2							119.0	106.0	110.0					1																	183938441		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183938441T>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.794A>C	1.37:g.183938441T>G	ENSP00000354960:p.Asp265Ala					COLGALT2_ENST00000546159.1_Missense_Mutation_p.D265A	p.D265A	NM_015101.2	NP_055916.1					5	1165	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.794A>C	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725067	0.89298	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.81163	-1.46;-1.46	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94778	0.7951	10	0.87932	D	0	.	15.4993	0.75684	0.0:0.0:0.0:1.0	.	265;265	F5H3T5;Q8IYK4	.;GT252_HUMAN	A	265	ENSP00000439112:D265A;ENSP00000354960:D265A	ENSP00000354960:D265A	D	-	2	0	GLT25D2	182205064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.699000	0.84547	2.067000	0.61834	0.482000	0.46254	GAT		0.517	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		27	53	0	0	0	1	0	27	53				
SPIC	121599	broad.mit.edu	37	12	101880424	101880424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:101880424G>A	ENST00000551346.1	+	6	781	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	SPIC_ENST00000299272.5_Missense_Mutation_p.G208R			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	208					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTATTTCCTGGGGAAAGAGAT	0.383																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(622-624)Ggg>Agg		Spi-C transcription factor (Spi-1/PU.1 related)							87.0	94.0	92.0					12																	101880424		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880424G>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.622G>A	12.37:g.101880424G>A	ENSP00000448580:p.Gly208Arg					SPIC_ENST00000299272.5_Missense_Mutation_p.G208R	p.G208R			Q8N5J4	SPIC_HUMAN			6	781	+			208						Missense_Mutation	SNP	ENST00000551346.1	37	c.622G>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202842	0.38905	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.54279	0.58;0.58	4.04	3.14	0.36123	.	0.291643	0.36854	N	0.002378	T	0.45637	0.1352	L	0.39898	1.24	0.38081	D	0.93666	P	0.47191	0.891	P	0.44597	0.454	T	0.45818	-0.9235	10	0.35671	T	0.21	-0.2947	12.0582	0.53548	0.086:0.0:0.914:0.0	.	208	Q8N5J4	SPIC_HUMAN	R	208	ENSP00000448580:G208R;ENSP00000299272:G208R	ENSP00000299272:G208R	G	+	1	0	SPIC	100404555	1.000000	0.71417	0.802000	0.32245	0.391000	0.30476	5.557000	0.67313	0.808000	0.34231	0.555000	0.69702	GGG		0.383	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		68	92	0	0	0	1	0	68	92				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	159	0	0	0	1	0	4	159				
KRI1	65095	broad.mit.edu	37	19	10668528	10668528	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:10668528C>G	ENST00000312962.6	-	15	1440	c.1421G>C	c.(1420-1422)cGc>cCc	p.R474P	KRI1_ENST00000361821.5_Missense_Mutation_p.R470P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	468						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGGGCCTCGCGCTTTTTCTT	0.687																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1420-1422)cGc>cCc		KRI1 homolog (S. cerevisiae)							31.0	33.0	32.0					19																	10668528		2203	4299	6502	SO:0001583	missense	65095							g.chr19:10668528C>G		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1421G>C	19.37:g.10668528C>G	ENSP00000320917:p.Arg474Pro					KRI1_ENST00000361821.5_Missense_Mutation_p.R470P	p.R474P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1440	-			474					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1421G>C	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	4.400	0.073922	0.08485	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09350	3.16;2.99	5.36	0.762	0.18454	.	0.710364	0.13943	N	0.352040	T	0.09247	0.0228	L	0.56769	1.78	0.09310	N	1	B;P	0.44380	0.275;0.834	B;B	0.38156	0.129;0.266	T	0.23583	-1.0184	10	0.30854	T	0.27	-2.3893	4.6484	0.12584	0.2603:0.5162:0.0:0.2235	.	474;470	Q8N9T8;D3YTE0	KRI1_HUMAN;.	P	474;470;474	ENSP00000320917:R474P;ENSP00000355366:R470P	ENSP00000320917:R474P	R	-	2	0	KRI1	10529528	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.329000	0.19698	-0.001000	0.14495	-0.244000	0.11960	CGC		0.687	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		10	30	0	0	0	1	0	10	30				
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A	rs568492430	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:124339330C>A	ENST00000338354.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607													C|||	10	0.00199681	0.0008	0.0	5008	,	,		18345	0.0		0.005	False		,,,				2504	0.0041				Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(916-918)Cat>Aat		deleted in malignant brain tumors 1							63.0	64.0	64.0					10																	124339330		1890	4107	5997	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339330C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.916C>A	10.37:g.124339330C>A	ENSP00000342210:p.His306Asn					DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron	p.H306N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			10	1022	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	306			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.916C>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271520	0.00257	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	3.94	-0.991	0.10235	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.17238	0.0414	N	0.00493	-1.44	0.09310	N	0.999999	B;B;B;D;B	0.55385	0.002;0.001;0.0;0.971;0.132	B;B;B;P;B	0.58077	0.004;0.003;0.001;0.832;0.18	T	0.06023	-1.0850	9	0.18710	T	0.47	.	0.6102	0.00760	0.366:0.1629:0.122:0.3491	.	306;306;306;306;306	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	N	306	ENSP00000342210:H306N;ENSP00000343175:H306N;ENSP00000327747:H306N;ENSP00000357905:H306N;ENSP00000357951:H306N;ENSP00000357952:H306N	ENSP00000331522:H306N	H	+	1	0	DMBT1	124329320	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.900000	0.01599	-0.010000	0.14271	0.430000	0.28490	CAT		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	204	1	0	0.000219431	1	0.000229497	5	204				
CD86	942	broad.mit.edu	37	3	121825090	121825090	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:121825090A>C	ENST00000330540.2	+	4	562	c.446A>C	c.(445-447)gAa>gCa	p.E149A	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E143A|CD86_ENST00000469710.1_Missense_Mutation_p.E67A|CD86_ENST00000493101.1_Missense_Mutation_p.E37A	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	149					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	AATATAACAGAAAATGTGTAC	0.328																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(445-447)gAa>gCa		CD86 molecule	Abatacept(DB01281)						44.0	44.0	44.0					3																	121825090		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825090A>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.446A>C	3.37:g.121825090A>C	ENSP00000332049:p.Glu149Ala					CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.E37A|CD86_ENST00000393627.2_Missense_Mutation_p.E143A|CD86_ENST00000469710.1_Missense_Mutation_p.E67A	p.E149A	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	562	+			149					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.446A>C	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.78|11.78	1.739728|1.739728	0.30865|0.30865	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T;T;T|.	0.14391|.	2.64;2.51;2.64;3.58;2.64|.	5.65|5.65	-3.73|-3.73	0.04398|0.04398	.|.	1.143140|.	0.06451|.	N|.	0.727803|.	T|T	0.40297|0.40297	0.1111|0.1111	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	P;B|.	0.47962|.	0.903;0.238|.	B;B|.	0.43052|.	0.406;0.126|.	T|T	0.46119|0.46119	-0.9214|-0.9214	10|5	0.22109|.	T|.	0.4|.	-0.2067|-0.2067	4.2613|4.2613	0.10742|0.10742	0.5329:0.0:0.2201:0.247|0.5329:0.0:0.2201:0.247	.|.	37;149|.	E9PC27;P42081|.	.;CD86_HUMAN|.	A|S	67;37;149;143;143|144	ENSP00000418988:E67A;ENSP00000420230:E37A;ENSP00000332049:E149A;ENSP00000419116:E143A;ENSP00000377248:E143A|.	ENSP00000332049:E149A|.	E|R	+|+	2|3	0|2	CD86|CD86	123307780|123307780	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.526000|0.526000	0.34562|0.34562	-0.198000|-0.198000	0.09505|0.09505	-0.283000|-0.283000	0.09115|0.09115	0.533000|0.533000	0.62120|0.62120	GAA|AGA		0.328	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		19	46	0	0	0	1	0	19	46				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	77	0	0	0	1	0	4	77				
C1orf216	127703	broad.mit.edu	37	1	36186517	36186517	+	5'Flank	SNP	C	C	A	rs531585705		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:36186517C>A	ENST00000270815.4	-	0	0				CLSPN_ENST00000251195.5_Missense_Mutation_p.R1325M	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216											kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AAATGAAAGCCTGAAGAATCC	0.488																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3973-3975)aGg>aTg		claspin							56.0	55.0	55.0					1																	36186517		876	1991	2867	SO:0001631	upstream_gene_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36186517C>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167		1.37:g.36186517C>A	Exception_encountered						p.R1325M			Q9HAW4	CLSPN_HUMAN			25	4070	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	0					D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	c.3974G>T	CCDS395.1	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098294	0.20552	.	.	ENSG00000092853	ENST00000251195	T	0.24538	1.85	2.31	-2.0	0.07433	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32640	-0.9899	6	0.87932	D	0	.	3.2891	0.06943	0.0:0.338:0.2189:0.4431	.	.	.	.	M	1325	ENSP00000251195:R1325M	ENSP00000251195:R1325M	R	-	2	0	CLSPN	35959104	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.499000	0.06413	-0.532000	0.06332	0.603000	0.83216	AGG		0.488	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		13	8	1	0	0.00010058	1	0.000106168	13	8				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		7	156	0	0	0	1	0	7	156				
ABCB4	5244	broad.mit.edu	37	7	87104738	87104738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:87104738G>A	ENST00000265723.4	-	2	155	c.44C>T	c.(43-45)aCg>aTg	p.T15M	ABCB4_ENST00000453593.1_Missense_Mutation_p.T15M|ABCB4_ENST00000358400.3_Missense_Mutation_p.T15M|ABCB4_ENST00000359206.3_Missense_Mutation_p.T15M|ABCB4_ENST00000545634.1_Missense_Mutation_p.T15M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	15					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTCCGCGCTCGTGGGGCGCCA	0.597																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(43-45)aCg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 4							74.0	68.0	70.0					7																	87104738		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104738G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.44C>T	7.37:g.87104738G>A	ENSP00000265723:p.Thr15Met					ABCB4_ENST00000453593.1_Missense_Mutation_p.T15M|ABCB4_ENST00000545634.1_Missense_Mutation_p.T15M|ABCB4_ENST00000359206.3_Missense_Mutation_p.T15M|ABCB4_ENST00000358400.3_Missense_Mutation_p.T15M	p.T15M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			2	155	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		15					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.44C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709991	0.15239	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87179	-2.15;-2.22;-2.2;-2.22;-2.15	3.3	-4.56	0.03431	.	.	.	.	.	T	0.60983	0.2311	N	0.08118	0	0.09310	N	1	B;P;B;B	0.41978	0.279;0.767;0.4;0.279	B;B;B;B	0.27715	0.007;0.082;0.009;0.004	T	0.60125	-0.7324	9	0.49607	T	0.09	12.0754	0.9469	0.01367	0.1544:0.2824:0.3071:0.2562	.	15;15;15;15	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	M	15	ENSP00000352135:T15M;ENSP00000351172:T15M;ENSP00000265723:T15M;ENSP00000392983:T15M;ENSP00000437465:T15M	ENSP00000265723:T15M	T	-	2	0	ABCB4	86942674	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.062000	0.11674	-0.797000	0.04450	-0.156000	0.13503	ACG		0.597	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		25	42	0	0	0	1	0	25	42				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	136	0	0	0	1	0	5	136				
ZNF106	64397	broad.mit.edu	37	15	42731816	42731816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:42731816G>T	ENST00000263805.4	-	8	4216	c.3890C>A	c.(3889-3891)cCa>cAa	p.P1297Q	ZNF106_ENST00000565611.1_Missense_Mutation_p.P482Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.P525Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1297					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTTTGGTTGGCTCTTCCCC	0.443																																						ENST00000263805.4																			0											c.(3889-3891)cCa>cAa		zinc finger protein 106							71.0	77.0	75.0					15																	42731816		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42731816G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3890C>A	15.37:g.42731816G>T	ENSP00000263805:p.Pro1297Gln					ZNF106_ENST00000565611.1_Missense_Mutation_p.P482Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.P525Q	p.P1297Q	NM_022473.1	NP_071918.1					8	4216	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3890C>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946962	0.18356	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.54071	0.59	4.99	4.99	0.66335	.	0.525767	0.19609	N	0.110189	T	0.37865	0.1019	L	0.36672	1.1	0.09310	N	1	B;B	0.23735	0.09;0.004	B;B	0.23419	0.046;0.004	T	0.11567	-1.0582	10	0.26408	T	0.33	-2.5475	5.4624	0.16624	0.0783:0.1411:0.635:0.1456	.	525;1297	E9PE29;Q9H2Y7	.;ZF106_HUMAN	Q	1297;525	ENSP00000263805:P1297Q	ENSP00000263805:P1297Q	P	-	2	0	ZFP106	40519108	0.000000	0.05858	0.882000	0.34594	0.568000	0.35870	0.372000	0.20467	2.568000	0.86640	0.655000	0.94253	CCA		0.443	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	136	1	0	0.0381472	1	0.0381472	7	136				
GABRA6	2559	broad.mit.edu	37	5	161113343	161113343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:161113343C>T	ENST00000274545.5	+	2	579	c.146C>T	c.(145-147)cCg>cTg	p.P49L	GABRA6_ENST00000523217.1_Missense_Mutation_p.P49L|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	49					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CGGCTGCGGCCGGGATTTGGA	0.488										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(145-147)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						95.0	102.0	100.0					5																	161113343		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113343C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.146C>T	5.37:g.161113343C>T	ENSP00000274545:p.Pro49Leu	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.P49L|GABRA6_ENST00000522269.1_3'UTR	p.P49L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	388	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	49					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.146C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506763	0.85282	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.94966	-3.57;-3.57	5.63	5.63	0.86233	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98693	1.0697	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	49	Q16445	GBRA6_HUMAN	L	49	ENSP00000274545:P49L;ENSP00000430527:P49L	ENSP00000274545:P49L	P	+	2	0	GABRA6	161045921	1.000000	0.71417	0.832000	0.32986	0.439000	0.31926	7.368000	0.79567	2.652000	0.90054	0.655000	0.94253	CCG		0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			7	136	0	0	0	1	0	7	136				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	58	0	0	0	1	0	4	58				
DYRK2	8445	broad.mit.edu	37	12	68052429	68052429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:68052429C>T	ENST00000344096.3	+	3	2155	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.A508V	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	581					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACTAATTTGGCGCAGATGACA	0.468																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1741-1743)gCg>gTg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							238.0	233.0	235.0					12																	68052429		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68052429C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1742C>T	12.37:g.68052429C>T	ENSP00000342105:p.Ala581Val					DYRK2_ENST00000393555.3_Missense_Mutation_p.A508V	p.A581V	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	2155	+			581					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.1742C>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542156	0.27563	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.68025	-0.3;-0.28	5.58	4.7	0.59300	.	0.046978	0.85682	D	0.000000	T	0.56077	0.1961	L	0.36672	1.1	0.80722	D	1	B	0.19200	0.034	B	0.12156	0.007	T	0.51084	-0.8750	9	.	.	.	.	15.057	0.71921	0.0:0.9317:0.0:0.0683	.	581	Q92630	DYRK2_HUMAN	V	581;508	ENSP00000342105:A581V;ENSP00000377186:A508V	.	A	+	2	0	DYRK2	66338696	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.786000	0.55431	1.527000	0.49086	-0.355000	0.07637	GCG		0.468	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			108	261	0	0	0	1	0	108	261				
FAM65A	79567	broad.mit.edu	37	16	67574096	67574096	+	Silent	SNP	C	C	T	rs371091978		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:67574096C>T	ENST00000379312.3	+	7	688	c.567C>T	c.(565-567)cgC>cgT	p.R189R	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Silent_p.R199R|FAM65A_ENST00000540839.3_Silent_p.R205R|FAM65A_ENST00000042381.4_Silent_p.R185R|FAM65A_ENST00000422602.2_Silent_p.R205R	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	189						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGGGCATCGCGAGTACACGG	0.692																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(613-615)cgC>cgT		family with sequence similarity 65, member A		C	,,,	1,4395	2.1+/-5.4	0,1,2197	39.0	41.0	40.0		567,615,597,555	-10.3	0.3	16		40	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,,,	189/1224,205/1240,199/1234,185/1220	67574096	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67574096C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.567C>T	16.37:g.67574096C>T						FAM65A_ENST00000428437.2_Silent_p.R199R|FAM65A_ENST00000379312.3_Silent_p.R189R|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Silent_p.R205R|FAM65A_ENST00000042381.4_Silent_p.R185R	p.R205R			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	8	835	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	189					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.615C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861739	0.17178	2.27E-4	0.0	ENSG00000039523	ENST00000428437	.	.	.	5.14	-10.3	0.00346	.	0.059111	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-8.925	3.6667	0.08258	0.184:0.424:0.2337:0.1582	.	.	.	.	X	180	.	ENSP00000389456:R180X	R	+	1	2	FAM65A	66131597	0.086000	0.21541	0.336000	0.25522	0.545000	0.35147	-0.613000	0.05610	-3.464000	0.00158	-2.824000	0.00108	CGA		0.692	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		38	46	0	0	0	1	0	38	46				
VAV1	7409	broad.mit.edu	37	19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	ENST00000602142.1	+	16	1605	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_ENST00000304076.2_Missense_Mutation_p.P508L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	508					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1522-1524)cCg>cTg		vav 1 guanine nucleotide exchange factor							44.0	41.0	42.0					19																	6833209		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833209C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1523C>T	19.37:g.6833209C>T	ENSP00000472929:p.Pro508Leu					VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L	p.P508L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			16	1617	+			508					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1523C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334250	0.81801	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88277	-2.36;-2.36	4.85	4.85	0.62838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.75020	0.875;0.863;0.985;0.977	D	0.95337	0.8435	10	0.59425	D	0.04	.	15.4697	0.75432	0.0:1.0:0.0:0.0	.	411;508;453;508	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	L	508;411	ENSP00000302269:P508L;ENSP00000443242:P411L	ENSP00000302269:P508L	P	+	2	0	VAV1	6784209	1.000000	0.71417	0.991000	0.47740	0.730000	0.41778	7.165000	0.77544	2.242000	0.73789	0.650000	0.86243	CCG		0.438	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			11	18	0	0	0	1	0	11	18				
MYH4	4622	broad.mit.edu	37	17	10359164	10359164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:10359164G>A	ENST00000255381.2	-	18	2133	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATGCACCGCACAAAGTGG	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2023-2025)Cgg>Tgg		myosin, heavy chain 4, skeletal muscle							140.0	140.0	140.0					17																	10359164		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359164G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2023C>T	17.37:g.10359164G>A	ENSP00000255381:p.Arg675Trp					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R675W	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			18	2133	-			675			Actin-binding (By similarity).|Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2023C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896201	0.72639	.	.	ENSG00000141048	ENST00000255381	D	0.90732	-2.72	4.87	3.88	0.44766	Myosin head, motor domain (2);	0.000000	0.36628	U	0.002491	D	0.97704	0.9247	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	14.979	0.71299	0.0:0.0:0.8565:0.1435	.	675	Q9Y623	MYH4_HUMAN	W	675	ENSP00000255381:R675W	ENSP00000255381:R675W	R	-	1	2	MYH4	10299889	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	5.602000	0.67612	1.143000	0.42306	0.455000	0.32223	CGG		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	184	0	0	0	1	0	4	184				
BSG	682	broad.mit.edu	37	19	577937	577937	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:577937C>T	ENST00000333511.3	+	2	301	c.231C>T	c.(229-231)gaC>gaT	p.D77D	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	77					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTGGACCGCGTCCACA	0.692																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(229-231)gaC>gaT		basigin							31.0	29.0	30.0					19																	577937		2195	4292	6487	SO:0001819	synonymous_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577937C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.231C>T	19.37:g.577937C>T						BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron	p.D77D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	301	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	77					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	37	c.231C>T	CCDS12033.1																																																																																				0.692	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		3	20	0	0	0	1	0	3	20				
NOTCH1	4851	broad.mit.edu	37	9	139391884	139391884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139391884C>A	ENST00000277541.6	-	34	6382	c.6307G>T	c.(6307-6309)Gag>Tag	p.E2103*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2103					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGCTCCTGTGCGATG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6307-6309)Gag>Tag		notch 1							38.0	41.0	40.0					9																	139391884		2185	4274	6459	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391884C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6307G>T	9.37:g.139391884C>A	ENSP00000277541:p.Glu2103*	HNSCC(8;0.001)					p.E2103*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6382	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2103					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.6307G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	46	12.378419	0.99662	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.42	5.42	0.78866	.	0.166665	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	.	.	.	X	2103	.	ENSP00000277541:E2103X	E	-	1	0	NOTCH1	138511705	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.894000	0.69806	2.703000	0.92315	0.561000	0.74099	GAG		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		29	17	1	0	1.08312e-15	1	1.22253e-15	29	17				
RETNLB	84666	broad.mit.edu	37	3	108475916	108475916	+	Silent	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	ENST00000295755.6	-	1	315	c.117C>A	c.(115-117)ctC>ctA	p.L39L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	39					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(115-117)ctC>ctA		resistin like beta							63.0	55.0	58.0					3																	108475916		2203	4300	6503	SO:0001819	synonymous_variant	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475916G>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.117C>A	3.37:g.108475916G>T							p.L39L	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			1	315	-			39					Q14D27	Silent	SNP	ENST00000295755.6	37	c.117C>A	CCDS2953.1																																																																																				0.498	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			12	23	1	0	0.000978159	1	0.00101373	12	23				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	221	0	0	0	1	0	4	221				
ASXL3	80816	broad.mit.edu	37	18	31325278	31325278	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:31325278G>A	ENST00000269197.5	+	12	5466	c.5466G>A	c.(5464-5466)aaG>aaA	p.K1822K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1822					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGAAAGCGAGAAAACC	0.468																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5464-5466)aaG>aaA		additional sex combs like 3 (Drosophila)							138.0	140.0	139.0					18																	31325278		1926	4122	6048	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325278G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5466G>A	18.37:g.31325278G>A							p.K1822K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5466	+			1822					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5466G>A	CCDS45847.1																																																																																				0.468	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			95	133	0	0	0	1	0	95	133				
NBAS	51594	broad.mit.edu	37	2	15701333	15701333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:15701333C>A	ENST00000281513.5	-	1	121	c.96G>T	c.(94-96)tgG>tgT	p.W32C	NBAS_ENST00000441750.1_Missense_Mutation_p.W32C|AC008278.2_ENST00000438178.1_RNA	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	32					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTCCGGTGGCCACTCGGTGT	0.617																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(94-96)tgG>tgT		neuroblastoma amplified sequence							125.0	121.0	122.0					2																	15701333		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15701333C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.96G>T	2.37:g.15701333C>A	ENSP00000281513:p.Trp32Cys					NBAS_ENST00000441750.1_Missense_Mutation_p.W32C	p.W32C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			1	121	-			32					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.96G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275563	0.59649	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.38240	1.15;1.26	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.63843	1.955	0.47407	D	0.999415	D	0.89917	1.0	D	0.87578	0.998	T	0.59010	-0.7534	10	0.87932	D	0	.	16.1163	0.81306	0.0:1.0:0.0:0.0	.	32	A2RRP1	NBAS_HUMAN	C	32	ENSP00000413201:W32C;ENSP00000281513:W32C	ENSP00000281513:W32C	W	-	3	0	NBAS	15618784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.489000	0.53237	2.861000	0.98227	0.655000	0.94253	TGG		0.617	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		68	136	1	0	5.62145e-24	1	6.40845e-24	68	136				
JSRP1	126306	broad.mit.edu	37	19	2252988	2252988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:2252988C>T	ENST00000300961.6	-	6	515	c.451G>A	c.(451-453)Gag>Aag	p.E151K	MIR4321_ENST00000592276.1_RNA|JSRP1_ENST00000586471.2_Missense_Mutation_p.E151K	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	151	Pro-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGCCTCCCCAGGGACG	0.692																																						ENST00000300961.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6						c.(451-453)Gag>Aag		junctional sarcoplasmic reticulum protein 1							23.0	23.0	23.0					19																	2252988		2187	4294	6481	SO:0001583	missense	126306					sarcoplasmic reticulum membrane		g.chr19:2252988C>T	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.451G>A	19.37:g.2252988C>T	ENSP00000300961:p.Glu151Lys					JSRP1_ENST00000586471.1_Missense_Mutation_p.E151K	p.E151K	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	515	-			151			Pro-rich.			Missense_Mutation	SNP	ENST00000300961.6	37	c.451G>A	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055452	0.36277	.	.	ENSG00000167476	ENST00000300961	T	0.45668	0.89	3.88	1.5	0.22942	.	1.314360	0.05190	N	0.502876	T	0.29491	0.0735	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.29671	-1.0004	10	0.59425	D	0.04	-2.2263	6.2715	0.20956	0.0:0.694:0.188:0.118	.	151	Q96MG2	JSPR1_HUMAN	K	151	ENSP00000300961:E151K	ENSP00000300961:E151K	E	-	1	0	JSRP1	2203988	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.677000	0.25262	0.355000	0.24131	0.561000	0.74099	GAG		0.692	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		3	6	0	0	0	1	0	3	6				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		3	57	0	0	0	1	0	3	57				
RGS16	6004	broad.mit.edu	37	1	182571168	182571168	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:182571168G>C	ENST00000367558.5	-	4	468	c.320C>G	c.(319-321)gCt>gGt	p.A107G		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	107	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CAGCTTGGTAGCTGATCGGAT	0.542											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(319-321)gCt>gGt		regulator of G-protein signaling 16							102.0	108.0	106.0					1																	182571168		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182571168G>C	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.320C>G	1.37:g.182571168G>C	ENSP00000356529:p.Ala107Gly		OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1977		p.A107G	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			4	468	-			107			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.320C>G	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703445	0.30232	.	.	ENSG00000143333	ENST00000367558	T	0.29142	1.58	5.4	4.43	0.53597	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.411431	0.28952	N	0.013616	T	0.19406	0.0466	N	0.20685	0.6	0.09310	N	1	B;B	0.16603	0.005;0.018	B;B	0.24701	0.038;0.055	T	0.09574	-1.0668	10	0.72032	D	0.01	.	6.5322	0.22334	0.0888:0.0:0.6327:0.2785	.	107;107	B4DVW5;O15492	.;RGS16_HUMAN	G	107	ENSP00000356529:A107G	ENSP00000356529:A107G	A	-	2	0	RGS16	180837791	0.026000	0.19158	0.093000	0.20910	0.482000	0.33219	2.057000	0.41365	2.525000	0.85131	0.563000	0.77884	GCT		0.542	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		5	176	0	0	0	1	0	5	176				
MED26	9441	broad.mit.edu	37	19	16687703	16687703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:16687703G>A	ENST00000263390.3	-	3	1200	c.938C>T	c.(937-939)cCg>cTg	p.P313L	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.P321L|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	313	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AAGCGGTGACGGCACCTGTGT	0.682																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(937-939)cCg>cTg		mediator complex subunit 26							13.0	16.0	15.0					19																	16687703		2189	4286	6475	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687703G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.938C>T	19.37:g.16687703G>A	ENSP00000263390:p.Pro313Leu					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.P321L	p.P313L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1200	-			313			Pro-rich.		A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.938C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411632	0.25465	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.73	3.69	0.42338	.	0.275088	0.34777	N	0.003689	T	0.32224	0.0822	L	0.40543	1.245	0.35960	D	0.834529	P	0.39404	0.672	B	0.28553	0.091	T	0.51988	-0.8635	9	0.72032	D	0.01	-14.4702	9.7354	0.40384	0.096:0.0:0.904:0.0	.	313	O95402	MED26_HUMAN	L	313	.	ENSP00000263390:P313L	P	-	2	0	MED26	16548703	1.000000	0.71417	0.927000	0.36925	0.388000	0.30384	4.635000	0.61332	2.189000	0.69895	0.549000	0.68633	CCG		0.682	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		13	24	0	0	0	1	0	13	24				
HIPK2	28996	broad.mit.edu	37	7	139288907	139288907	+	Silent	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:139288907T>A	ENST00000406875.3	-	10	2269	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	HIPK2_ENST00000428878.2_Silent_p.G698G|HIPK2_ENST00000342645.6_Silent_p.G725G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	725	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGTGGCCACTCCAGTCAGTT	0.587																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2173-2175)ggA>ggT		homeodomain interacting protein kinase 2							118.0	123.0	121.0					7																	139288907		2137	4248	6385	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139288907T>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2175A>T	7.37:g.139288907T>A						HIPK2_ENST00000342645.6_Silent_p.G725G|HIPK2_ENST00000428878.2_Silent_p.G698G	p.G725G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			10	2269	-	Melanoma(164;0.205)		725			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2175A>T																																																																																					0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		5	172	0	0	0	1	0	5	172				
CTDSPL2	51496	broad.mit.edu	37	15	44813601	44813601	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:44813601A>G	ENST00000260327.4	+	12	1895	c.1332A>G	c.(1330-1332)gaA>gaG	p.E444E	CTDSPL2_ENST00000558966.1_Silent_p.E444E|CTDSPL2_ENST00000396780.1_Silent_p.E372E|CTDSPL2_ENST00000558373.1_Silent_p.E372E	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	444							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTGTAGAACTGGTAAGTG	0.303																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(1330-1332)gaA>gaG		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							77.0	79.0	79.0					15																	44813601		2198	4298	6496	SO:0001819	synonymous_variant	51496						phosphoprotein phosphatase activity	g.chr15:44813601A>G	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1332A>G	15.37:g.44813601A>G						CTDSPL2_ENST00000396780.1_Silent_p.E372E|CTDSPL2_ENST00000558373.1_Silent_p.E372E|CTDSPL2_ENST00000558966.1_Silent_p.E444E	p.E444E	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	12	1895	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	444					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	ENST00000260327.4	37	c.1332A>G	CCDS10110.1																																																																																				0.303	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		42	96	0	0	0	1	0	42	96				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	163	0	0	0	1	0	4	163				
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289																																						ENST00000358642.2																			2	Substitution - Missense(2)	p.A198T(2)	large_intestine(1)|endometrium(1)	endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(592-594)Gca>Aca		olfactory receptor, family 5, subfamily AC, member 2							47.0	49.0	48.0					3																	97806608		2203	4299	6502	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806608G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.592G>A	3.37:g.97806608G>A	ENSP00000351466:p.Ala198Thr						p.A198T	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	592	+			198						Missense_Mutation	SNP	ENST00000358642.2	37	c.592G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825980	0.32237	.	.	ENSG00000196578	ENST00000358642	T	0.00099	8.73	5.03	-5.16	0.02857	GPCR, rhodopsin-like superfamily (1);	3.367050	0.01838	U	0.035147	T	0.00073	0.0002	N	0.11064	0.09	0.09310	N	1	B	0.20550	0.046	B	0.21708	0.036	T	0.32214	-0.9915	10	0.66056	D	0.02	-0.0146	4.1855	0.10395	0.3439:0.0:0.3282:0.3279	.	198	Q9NZP5	O5AC2_HUMAN	T	198	ENSP00000351466:A198T	ENSP00000351466:A198T	A	+	1	0	OR5AC2	99289298	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-2.317000	0.01122	-1.060000	0.03189	0.590000	0.80494	GCA		0.289	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			34	62	0	0	0	1	0	34	62				
DPEP3	64180	broad.mit.edu	37	16	68014005	68014005	+	Silent	SNP	G	G	T	rs531603108	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:68014005G>T	ENST00000268793.4	-	1	727	c.354C>A	c.(352-354)ctC>ctA	p.L118L	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGTCCACGAGTGGGAAAC	0.637																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(352-354)ctC>ctA		dipeptidase 3							46.0	44.0	44.0					16																	68014005		2198	4300	6498	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014005G>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.354C>A	16.37:g.68014005G>T						DPEP3_ENST00000574342.1_5'UTR	p.L118L	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	727	-		Ovarian(137;0.192)	93					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.354C>A	CCDS10856.1																																																																																				0.637	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		8	80	1	0	5.18039e-06	1	5.57136e-06	8	80				
TIAM2	26230	broad.mit.edu	37	6	155500200	155500200	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:155500200G>A	ENST00000461783.3	+	13	3824	c.2551G>A	c.(2551-2553)Ggc>Agc	p.G851S	TIAM2_ENST00000456877.2_Missense_Mutation_p.G163S|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227S|TIAM2_ENST00000360366.4_Missense_Mutation_p.G875S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851S|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	851	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGCCATTATGGCCTACAGCT	0.373																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2551-2553)Ggc>Agc		T-cell lymphoma invasion and metastasis 2							115.0	104.0	108.0					6																	155500200		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500200G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2551G>A	6.37:g.155500200G>A	ENSP00000437188:p.Gly851Ser					TIAM2_ENST00000360366.4_Missense_Mutation_p.G875S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851S|TIAM2_ENST00000456877.2_Missense_Mutation_p.G163S|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227S|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851S	p.G851S			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	13	3824	+		Ovarian(120;0.196)	851			RBD.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2551G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120436	0.37436	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05199	3.64;3.55;3.61;3.64;3.49;3.65;3.61;3.48;3.49	5.33	4.46	0.54185	Raf-like Ras-binding (2);	0.124357	0.56097	D	0.000034	T	0.06690	0.0171	L	0.57536	1.79	0.40647	D	0.982002	B;P;P;P	0.48503	0.042;0.825;0.911;0.732	B;P;P;B	0.47891	0.208;0.474;0.56;0.283	T	0.07347	-1.0777	10	0.62326	D	0.03	.	14.183	0.65586	0.0:0.0:0.8504:0.1496	.	187;851;875;851	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	S	851;1097;851;851;851;227;875;851;163;187	ENSP00000437188:G851S;ENSP00000434901:G851S;ENSP00000407746:G851S;ENSP00000327315:G851S;ENSP00000356142:G227S;ENSP00000353528:G875S;ENSP00000433348:G851S;ENSP00000407183:G163S;ENSP00000435335:G187S	ENSP00000327315:G851S	G	+	1	0	TIAM2	155541892	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.116000	0.50399	1.378000	0.46305	-0.152000	0.13540	GGC		0.373	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		24	52	0	0	0	1	0	24	52				
COA7	65260	broad.mit.edu	37	1	53163903	53163905	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:53163903_53163905delCTT	ENST00000371538.3	-	1	133_135	c.94_96delAAG	c.(94-96)aagdel	p.K32del	SELRC1_ENST00000486918.1_5'Flank	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CGTCCGGGTCCTTCTCGTGGTAG	0.635																																						ENST00000371538.3																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(94-96)del		Sel1 repeat containing 1																																				SO:0001651	inframe_deletion	65260						binding	g.chr1:53163903_53163905delCTT																												ENST00000371538.3:c.94_96delAAG	1.37:g.53163903_53163905delCTT	ENSP00000360593:p.Lys32del						p.K32del	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			1	133_135	-			32						In_Frame_Del	DEL	ENST00000371538.3	37	c.94_96delAAG	CCDS570.1																																																																																				0.635	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			35	21						35	21	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	ENST00000370768.2	-	1	92_93	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	4					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(10-12)tfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444677_78444678delAT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.11_12delAT	1.37:g.78444677_78444678delAT	ENSP00000359804:p.Tyr4fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs	p.Y4fs			Q96AE4	FUBP1_HUMAN			1	98_99	-			4					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.11_12delAT	CCDS683.1																																																																																				0.559	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		24	8						24	8	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.R432K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.RQ432fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1359_1362	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1352						7	1352	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156713615	156713616	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:156713615_156713616insCC	ENST00000357325.5	-	5	858_859	c.544_545insGG	c.(544-546)gcafs	p.A182fs	HDGF_ENST00000416666.2_Frame_Shift_Ins_p.A150fs|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Frame_Shift_Ins_p.A175fs|HDGF_ENST00000368206.5_Frame_Shift_Ins_p.A198fs|MRPL24_ENST00000361531.2_5'Flank|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000537739.1_Frame_Shift_Ins_p.A182fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	182	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAAGGTGGCTGCCTCCTTCTCC	0.599																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(544-546)agcfs		hepatoma-derived growth factor																																				SO:0001589	frameshift_variant	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713615_156713616insCC	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.543_544dupGG	1.37:g.156713616_156713617dupCC	ENSP00000349878:p.Ala182fs					HDGF_ENST00000368206.5_Frame_Shift_Ins_p.S198fs|HDGF_ENST00000368209.5_Frame_Shift_Ins_p.S175fs|HDGF_ENST00000416666.2_Frame_Shift_Ins_p.S150fs|HDGF_ENST00000537739.1_Frame_Shift_Ins_p.S182fs|HDGF_ENST00000465180.1_5'UTR	p.S182fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	5	858_859	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	182			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Frame_Shift_Ins	INS	ENST00000357325.5	37	c.544_545insGG	CCDS1156.1																																																																																				0.599	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		14	49						14	49	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197112272	197112273	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:197112272_197112273delAG	ENST00000367409.4	-	3	1365_1366	c.1109_1110delCT	c.(1108-1110)tctfs	p.S370fs	ASPM_ENST00000294732.7_Frame_Shift_Del_p.S370fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	370					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTATGAAAGAATCTGGACT	0.287																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1108-1110)tfs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112272_197112273delAG	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1109_1110delCT	1.37:g.197112272_197112273delAG	ENSP00000356379:p.Ser370fs					ASPM_ENST00000294732.7_Frame_Shift_Del_p.S370fs	p.S370fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1365_1366	-			370					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	ENST00000367409.4	37	c.1109_1110delCT	CCDS1389.1																																																																																				0.287	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		19	40						19	40	---	---	---	---
FBXO28	23219	broad.mit.edu	37	1	224345219	224345219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:224345219delA	ENST00000366862.5	+	5	921	c.878delA	c.(877-879)caafs	p.Q293fs	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	293										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CAAGAACAGCAAAAACAGCTT	0.478																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(877-879)cafs		F-box protein 28							146.0	150.0	149.0					1																	224345219		2203	4300	6503	SO:0001589	frameshift_variant	23219							g.chr1:224345219delA	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.878delA	1.37:g.224345219delA	ENSP00000355827:p.Gln293fs					FBXO28_ENST00000424254.2_3'UTR	p.Q293fs	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	5	921	+	Breast(184;0.206)		293					E9PEM8|O75070	Frame_Shift_Del	DEL	ENST00000366862.5	37	c.878delA	CCDS1539.1																																																																																				0.478	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		10	174						10	174	---	---	---	---
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT														0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			94	270						94	270	---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231222607	231222607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:231222607delA	ENST00000415673.2	+	3	281	c.195delA	c.(193-195)tcafs	p.S65fs	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Frame_Shift_Del_p.S65fs|SP140L_ENST00000444636.1_Frame_Shift_Del_p.S65fs|SP140L_ENST00000243810.6_Frame_Shift_Del_p.S65fs|SP140L_ENST00000458341.1_5'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	65	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGAGATATCAAATGCAATAA	0.393																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(193-195)tcfs		SP140 nuclear body protein-like							179.0	187.0	184.0					2																	231222607		2183	4299	6482	SO:0001589	frameshift_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231222607delA	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.195delA	2.37:g.231222607delA	ENSP00000397911:p.Ser65fs					SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Frame_Shift_Del_p.S65fs|SP140L_ENST00000415673.2_Frame_Shift_Del_p.S65fs|SP140L_ENST00000444636.1_Frame_Shift_Del_p.S65fs|SP140L_ENST00000458341.1_5'UTR	p.S65fs			Q9H930	LY10L_HUMAN			3	195	+			65			HSR.		Q2M375|Q4ZG65|Q9BSP3	Frame_Shift_Del	DEL	ENST00000415673.2	37	c.195delA	CCDS46538.1																																																																																				0.393	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		12	268						12	268	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241534054	241534055	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:241534054_241534055delCT	ENST00000391984.2	+	6	1121_1122	c.925_926delCT	c.(925-927)ctcfs	p.L309fs	CAPN10_ENST00000404753.3_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	309	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGAGGAGTTCCTCAGGGAGTTT	0.639																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(925-927)cfs		calpain 10																																				SO:0001589	frameshift_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534054_241534055delCT	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.925_926delCT	2.37:g.241534054_241534055delCT	ENSP00000375844:p.Leu309fs					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.L309fs	p.L309fs	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	6	1121_1122	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	309			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Frame_Shift_Del	DEL	ENST00000391984.2	37	c.925_926delCT	CCDS42838.1																																																																																				0.639	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		7	131						7	131	---	---	---	---
GLB1	2720	broad.mit.edu	37	3	33093398	33093402	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:33093398_33093402delAAGTA	ENST00000399402.3	-	8	928_932	c.797_801delTACTT	c.(796-801)atacttfs	p.IL266fs	GLB1_ENST00000307377.8_Frame_Shift_Del_p.IL165fs|GLB1_ENST00000445488.2_Frame_Shift_Del_p.IL344fs|GLB1_ENST00000307363.5_Frame_Shift_Del_p.IL296fs	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	296			N -> S (in GM1G3). {ECO:0000269|PubMed:9203065}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCCCACGGGCAAGTATATCATAGAG	0.502																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(886-891)afs		galactosidase, beta 1																																				SO:0001589	frameshift_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33093398_33093402delAAGTA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.797_801delTACTT	3.37:g.33093398_33093402delAAGTA	ENSP00000382333:p.Ile266fs					GLB1_ENST00000399402.3_Frame_Shift_Del_p.IL266fs|GLB1_ENST00000307377.8_Frame_Shift_Del_p.IL165fs|GLB1_ENST00000445488.2_Frame_Shift_Del_p.IL344fs	p.IL296fs	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			8	1031_1035	-		Melanoma(143;0.104)	296					B2R7H8|B7Z6B0|P16279	Frame_Shift_Del	DEL	ENST00000399402.3	37	c.887_891delTACTT	CCDS43062.1																																																																																				0.502	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		22	64						22	64	---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38411579	38411580	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:38411579_38411580delAA	ENST00000207870.3	+	9	769_770	c.679_680delAA	c.(679-681)aaafs	p.K227fs	XYLB_ENST00000542835.1_Frame_Shift_Del_p.K90fs	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	227					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GATACAGGATAAAGTCTGGTCC	0.446																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(679-681)afs		xylulokinase homolog (H. influenzae)																																				SO:0001589	frameshift_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38411579_38411580delAA	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.679_680delAA	3.37:g.38411579_38411580delAA	ENSP00000207870:p.Lys227fs					XYLB_ENST00000542835.1_Frame_Shift_Del_p.K90fs	p.K227fs	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	9	769_770	+			227					B2RAW4|B4DDT2|B9EH64	Frame_Shift_Del	DEL	ENST00000207870.3	37	c.679_680delAA	CCDS2678.1																																																																																				0.446	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		81	183						81	183	---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48501874	48501875	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:48501874_48501875delTC	ENST00000320211.3	+	8	1534_1535	c.1421_1422delTC	c.(1420-1422)ttcfs	p.F474fs	ATRIP_ENST00000346691.4_Frame_Shift_Del_p.F474fs|ATRIP_ENST00000412052.1_Frame_Shift_Del_p.F381fs|ATRIP_ENST00000357105.6_Frame_Shift_Del_p.F347fs	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	474					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGAAGGCTTCTCTGTGACTG	0.579								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1141-1143)tfs	Other conserved DNA damage response genes	ATR interacting protein																																				SO:0001589	frameshift_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501874_48501875delTC	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1421_1422delTC	3.37:g.48501876_48501877delTC	ENSP00000323099:p.Phe474fs					ATRIP_ENST00000357105.6_Frame_Shift_Del_p.F347fs|ATRIP_ENST00000346691.4_Frame_Shift_Del_p.F474fs|ATRIP_ENST00000320211.3_Frame_Shift_Del_p.F474fs	p.F381fs	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1604_1605	+			474					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Frame_Shift_Del	DEL	ENST00000320211.3	37	c.1142_1143delTC	CCDS2768.1																																																																																				0.579	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		11	99						11	99	---	---	---	---
SHOX2	6474	broad.mit.edu	37	3	157815841	157815841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:157815841delT	ENST00000425436.3	-	5	996	c.971delA	c.(970-972)aagfs	p.K324fs	SHOX2_ENST00000483851.2_Frame_Shift_Del_p.K312fs|SHOX2_ENST00000389589.4_Frame_Shift_Del_p.K348fs|SHOX2_ENST00000441443.2_Frame_Shift_Del_p.K183fs|SHOX2_ENST00000490689.2_Frame_Shift_Del_p.K183fs	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	324					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGCGTGCTTTTTGGCTTT	0.677																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(547-549)agfs		short stature homeobox 2							185.0	200.0	195.0					3																	157815841		2203	4300	6503	SO:0001589	frameshift_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815841delT	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.971delA	3.37:g.157815841delT	ENSP00000398704:p.Lys324fs					SHOX2_ENST00000441443.2_Frame_Shift_Del_p.K183fs|SHOX2_ENST00000425436.3_Frame_Shift_Del_p.K324fs|SHOX2_ENST00000389589.4_Frame_Shift_Del_p.K348fs|SHOX2_ENST00000483851.2_Frame_Shift_Del_p.K312fs	p.K183fs			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	2081	-			324					O60465|O60467|O60903	Frame_Shift_Del	DEL	ENST00000425436.3	37	c.548delA	CCDS43164.1																																																																																				0.677	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			7	575						7	575	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA	rs369138533		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CATGCCTGACCAGACAACCAGG	0.574																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701310_195701311insAA	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701310_195701311insAA								NR_003264.2						0	1513_1514	-									RNA	INS	ENST00000427841.1	37																																																																																						0.574	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	69						7	69	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		6	9						6	9	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:105412094_105412096delGAG	ENST00000426831.1	-	1	371_373	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	CXXC4_ENST00000394767.2_In_Frame_Del_p.288_289SS>S|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	119	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S120A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606																																						ENST00000394767.2																			1	Substitution - Missense(1)	p.S120A(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(862-867)tcg>tc		CXXC finger protein 4				3,4263		0,3,2130						2.7	1.0			75	7,8245		0,7,4119	no	coding	CXXC4	NM_025212.1		0,10,6249	A1A1,A1R,RR		0.0848,0.0703,0.0799				10,12508				SO:0001651	inframe_deletion	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412094_105412096delGAG		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.357_359delCTC	4.37:g.105412103_105412105delGAG	ENSP00000412267:p.Ser123del					CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron	p.SS290del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1314_1316	-			121						In_Frame_Del	DEL	ENST00000426831.1	37	c.864_866delCTC																																																																																					0.606	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		24	75						24	75	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79035045	79035047	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:79035045_79035047delAAG	ENST00000446378.2	+	2	10488_10490	c.10457_10459delAAG	c.(10456-10461)aaagaa>aaa	p.E3488del		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3488					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E3487*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCGAGAGGAAAGAAGAAGACCA	0.414																																						ENST00000446378.2																			2	Substitution - Nonsense(2)	p.E3487*(2)	large_intestine(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10456-10461)aaa>a		cardiomyopathy associated 5				6,3660		3,0,1830						-1.2	0.0			76	29,7855		14,1,3927	no	coding	CMYA5	NM_153610.3		17,1,5757	A1A1,A1R,RR		0.3678,0.1637,0.303				35,11515				SO:0001651	inframe_deletion	202333					perinuclear region of cytoplasm		g.chr5:79035045_79035047delAAG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10457_10459delAAG	5.37:g.79035051_79035053delAAG	ENSP00000394770:p.Glu3488del						p.KE3486del	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10488_10490	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3486					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	In_Frame_Del	DEL	ENST00000446378.2	37	c.10457_10459delAAG	CCDS47238.1																																																																																				0.414	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	25						9	25	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145502055	145502059	+	Splice_Site	DEL	TTCTA	TTCTA	-	rs181386215	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:145502055_145502059delTTCTA	ENST00000394434.2	-	30	3354_3358	c.3188_3192delTAGAA	c.(3187-3192)atagaa>a	p.IE1063fs	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Splice_Site_p.IE1017fs|LARS_ENST00000274562.9_Splice_Site_p.IE1036fs|LARS_ENST00000510191.1_Splice_Site_p.IE1009fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1063					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAACTTACTTCTATTCTAAAAAC	0.351																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.e30+1		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001630	splice_region_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145502055_145502059delTTCTA	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3192+1TAGAA>-	5.37:g.145502060_145502064delTTCTA						LARS_ENST00000545646.1_Splice_Site_p.IE1017_splice|LARS_ENST00000510191.1_Splice_Site_p.IE1009_splice|LARS_ENST00000274562.9_Splice_Site_p.IE1036_splice	p.IE1063_splice	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		30	3354_3358	-			1063					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	DEL	ENST00000394434.2	37	c.3192_splice	CCDS34265.1																																																																																				0.351	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Frame_Shift_Del	18	53						18	53	---	---	---	---
HSPA1L	3305	broad.mit.edu	37	6	31778432	31778432	+	Frame_Shift_Del	DEL	C	C	-	rs201161706		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:31778432delC	ENST00000375654.4	-	2	1507	c.1318delG	c.(1318-1320)gtgfs	p.V440fs	HSPA1L_ENST00000417199.3_Frame_Shift_Del_p.V440fs	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	440					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGATCAGCACCCCGGGTTGG	0.587																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1318-1320)tgfs		heat shock 70kDa protein 1-like							133.0	131.0	132.0					6																	31778432		2203	4300	6503	SO:0001589	frameshift_variant	0				response to unfolded protein		ATP binding	g.chr6:31778432delC	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1318delG	6.37:g.31778432delC	ENSP00000364805:p.Val440fs					HSPA1L_ENST00000417199.3_Frame_Shift_Del_p.V440fs	p.V440fs	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1507	-			440					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Frame_Shift_Del	DEL	ENST00000375654.4	37	c.1318delG	CCDS34413.1																																																																																				0.587	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			81	168						81	168	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93982105	93982106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:93982105_93982106delCT	ENST00000369303.4	-	6	1543_1544	c.1359_1360delAG	c.(1357-1362)agagtafs	p.RV453fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGCTGCAGTACTCTCTCCTTCA	0.436																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1357-1362)agtafs		EPH receptor A7																																				SO:0001589	frameshift_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93982105_93982106delCT	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1359_1360delAG	6.37:g.93982109_93982110delCT	ENSP00000358309:p.Arg453fs						p.RV453fs	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	6	1543_1544	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	453			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Frame_Shift_Del	DEL	ENST00000369303.4	37	c.1359_1360delAG	CCDS5031.1																																																																																				0.436	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			42	122						42	122	---	---	---	---
GPR22	2845	broad.mit.edu	37	7	107115429	107115432	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:107115429_107115432delAAAG	ENST00000304402.4	+	3	2267_2270	c.924_927delAAAG	c.(922-927)caaaagfs	p.QK308fs	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	308					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GAGAAAGACAAAAGAGAGTCTTCA	0.407																																						ENST00000304402.4																			0				large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						c.(922-927)cafs		G protein-coupled receptor 22																																				SO:0001589	frameshift_variant	0					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115429_107115432delAAAG	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.924_927delAAAG	7.37:g.107115429_107115432delAAAG	ENSP00000302676:p.Gln308fs					COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron	p.QK308fs	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN			3	2267_2270	+			308					O14554	Frame_Shift_Del	DEL	ENST00000304402.4	37	c.924_927delAAAG	CCDS5744.1																																																																																				0.407	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			57	88						57	88	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3225230	3225231	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:3225230_3225231delAA	ENST00000382004.3	-	18	2372_2373	c.2061_2062delTT	c.(2059-2064)tcttcafs	p.SS687fs		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	687					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGAGGCTCTGAAGAGTCATCCA	0.45																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2059-2064)tccafs		regulatory factor X, 3 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3225230_3225231delAA	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2061_2062delTT	9.37:g.3225230_3225231delAA	ENSP00000371434:p.Ser687fs						p.SS687fs	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	18	2372_2373	-			687					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Frame_Shift_Del	DEL	ENST00000382004.3	37	c.2061_2062delTT	CCDS6449.1																																																																																				0.450	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		31	2						31	2	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414376	20414377	+	In_Frame_Ins	INS	-	-	CTG	rs1761445|rs373338988	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:20414376_20414377insCTG	ENST00000380338.4	-	5	753_754	c.467_468insCAG	c.(466-468)agt>agCAGt	p.156_156S>SS	MLLT3_ENST00000429426.2_In_Frame_Ins_p.153_153S>SS|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	156	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgct	0.53			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(466-468)aag>aCAGag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3																																				SO:0001652	inframe_insertion	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414376_20414377insCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465_467dupCAG	9.37:g.20414383_20414385dupCTG	ENSP00000369695:p.Ser190dup					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Ins_p.153_153K>TE|MLLT3_ENST00000355930.6_5'UTR	p.156_156K>TE	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	753_754	-			156			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Ins	INS	ENST00000380338.4	37	c.467_468insCAG	CCDS6494.1																																																																																				0.530	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		42	36						42	36	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			4	9						4	9	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413941	139413942	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139413941_139413942delCA	ENST00000277541.6	-	5	893_894	c.818_819delTG	c.(817-819)gtgfs	p.V273fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	273	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCACGCCGTCCACACAGGCACC	0.653			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(817-819)gfs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413941_139413942delCA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.818_819delTG	9.37:g.139413945_139413946delCA	ENSP00000277541:p.Val273fs	HNSCC(8;0.001)					p.V273fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	893_894	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	273			EGF-like 7; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.818_819delTG	CCDS43905.1																																																																																				0.653	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	97						7	97	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60556112	60556113	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:60556112_60556113delAA	ENST00000373886.3	+	10	1196_1197	c.1192_1193delAA	c.(1192-1194)aaafs	p.K398fs	BICC1_ENST00000263103.1_Frame_Shift_Del_p.K24fs	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	398					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGTGATTGTGAAAAGTGTTGAG	0.446																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1192-1194)afs		bicaudal C homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	80114				multicellular organismal development		RNA binding	g.chr10:60556112_60556113delAA	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1192_1193delAA	10.37:g.60556114_60556115delAA	ENSP00000362993:p.Lys398fs					BICC1_ENST00000263103.1_Frame_Shift_Del_p.K24fs	p.K398fs	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			10	1196_1197	+			398						Frame_Shift_Del	DEL	ENST00000373886.3	37	c.1192_1193delAA	CCDS31206.1																																																																																				0.446	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		54	65						54	65	---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116606856	116606858	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:116606856_116606858delGAA	ENST00000369248.4	+	12	1911_1913	c.1576_1578delGAA	c.(1576-1578)gaadel	p.E527del	FAM160B1_ENST00000369250.3_In_Frame_Del_p.E527del	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	527										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAGAGATCTGGAAGAAGATCCAT	0.345																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1576-1578)del		family with sequence similarity 160, member B1																																				SO:0001651	inframe_deletion	57700							g.chr10:116606856_116606858delGAA	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1576_1578delGAA	10.37:g.116606859_116606861delGAA	ENSP00000358251:p.Glu527del					FAM160B1_ENST00000369250.3_In_Frame_Del_p.E527del	p.E527del	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			12	1911_1913	+			527					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	In_Frame_Del	DEL	ENST00000369248.4	37	c.1576_1578delGAA	CCDS31290.1																																																																																				0.345	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		27	61						27	61	---	---	---	---
OVCH2	341277	broad.mit.edu	37	11	7723984	7723985	+	lincRNA	DEL	GT	GT	-	rs397714921|rs35642755|rs78652635|rs36058172		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:7723984_7723985delGT	ENST00000527565.1	-	0	1178				OVCH2_ENST00000534193.2_RNA|RP11-35J10.4_ENST00000527443.1_RNA|OVCH2_ENST00000454689.1_RNA																							ATAATATGGGGTGTGAGGCTGC	0.381																																						ENST00000454689.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15								ovochymase 2 (gene/pseudogene)																																						341277							g.chr11:7723984_7723985delGT																													11.37:g.7723986_7723987delGT						OVCH2_ENST00000534193.1_RNA		NM_198185.3	NP_937828.3				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	0	290	-									RNA	DEL	ENST00000527565.1	37																																																																																						0.381	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1			4	2						4	2	---	---	---	---
SWAP70	23075	broad.mit.edu	37	11	9735069	9735070	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:9735069_9735070insA	ENST00000318950.6	+	3	400_401	c.297_298insA	c.(298-300)aaafs	p.K100fs	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	100					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CCCTCTGTGTCAAAAAAAACCT	0.342																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(295-300)gtaaaafs		SWAP switching B-cell complex 70kDa subunit																																				SO:0001589	frameshift_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9735069_9735070insA	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.305dupA	11.37:g.9735077_9735077dupA	ENSP00000315630:p.Lys100fs					SWAP70_ENST00000447399.2_Intron	p.VK99fs	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	3	400_401	+			99					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Frame_Shift_Ins	INS	ENST00000318950.6	37	c.297_298insA	CCDS31426.1																																																																																				0.342	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		48	134						48	134	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055361	66055362	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:66055361_66055362delTT	ENST00000376901.4	-	3	453_454	c.269_270delAA	c.(268-270)aaafs	p.K90fs	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.K90fs|YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	90					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AATACTTGAGTTTGCTCACAGA	0.584																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(268-270)afs		Yip1 interacting factor homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055361_66055362delTT	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.269_270delAA	11.37:g.66055361_66055362delTT	ENSP00000366098:p.Lys90fs					YIF1A_ENST00000359461.6_Frame_Shift_Del_p.K90fs|YIF1A_ENST00000471387.2_Intron	p.K90fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			3	453_454	-			90					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.269_270delAA	CCDS8132.1																																																																																				0.584	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		55	147						55	147	---	---	---	---
NPC2	10577	broad.mit.edu	37	14	74947483	74947492	+	Splice_Site	DEL	CTGGAGAAAG	CTGGAGAAAG	-	rs10140782		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:74947483_74947492delCTGGAGAAAG	ENST00000555619.1	-	4	601		c.e4-1		NPC2_ENST00000541064.1_Intron|NPC2_ENST00000238633.2_Splice_Site|NPC2_ENST00000557510.1_Splice_Site|MIR4709_ENST00000577272.1_RNA|NPC2_ENST00000434013.2_Splice_Site	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2						cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		CCAGTTTTATCTGGAGAAAGAGAAAAATAA	0.395																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000555619.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.e4-1		Niemann-Pick disease, type C2																																				SO:0001630	splice_region_variant	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74947483_74947492delCTGGAGAAAG	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.364-1CTTTCTCCAG>-	14.37:g.74947483_74947492delCTGGAGAAAG						NPC2_ENST00000434013.2_Splice_Site|NPC2_ENST00000541064.1_Intron|NPC2_ENST00000238633.2_Splice_Site|NPC2_ENST00000557510.1_Splice_Site		NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	4	601	-								B4DQV7|Q15668|Q29413	Splice_Site	DEL	ENST00000555619.1	37		CCDS32121.1																																																																																				0.395	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432	Intron	11	214						11	214	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41148195	41148195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:41148195delG	ENST00000344051.4	+	9	1505	c.1271delG	c.(1270-1272)tgtfs	p.C424fs	SPINT1_ENST00000562057.1_Frame_Shift_Del_p.C408fs|SPINT1_ENST00000431806.1_Frame_Shift_Del_p.C408fs			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	424	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TATGGTGGTTGTTACGGCAAC	0.577																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1270-1272)ttfs		serine peptidase inhibitor, Kunitz type 1							152.0	145.0	148.0					15																	41148195		2203	4300	6503	SO:0001589	frameshift_variant	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41148195delG		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1271delG	15.37:g.41148195delG	ENSP00000342098:p.Cys424fs					SPINT1_ENST00000431806.1_Frame_Shift_Del_p.C408fs|SPINT1_ENST00000562057.1_Frame_Shift_Del_p.C408fs	p.C424fs			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	9	1505	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	424			BPTI/Kunitz inhibitor 2.		Q7Z7D2	Frame_Shift_Del	DEL	ENST00000344051.4	37	c.1271delG	CCDS10067.1																																																																																				0.577	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		55	105						55	105	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714217	43714219	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:43714217_43714219delGGA	ENST00000263801.3	-	19	4171_4173	c.3919_3921delTCC	c.(3919-3921)tccdel	p.S1307del	TP53BP1_ENST00000382044.4_In_Frame_Del_p.S1312del|TP53BP1_ENST00000382039.3_In_Frame_Del_p.S1312del|TP53BP1_ENST00000450115.2_In_Frame_Del_p.S1312del	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1307					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGATGCCTTGGAGGAGAAGGAG	0.537								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3919-3921)del	Other conserved DNA damage response genes	tumor protein p53 binding protein 1																																				SO:0001651	inframe_deletion	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43714217_43714219delGGA	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3919_3921delTCC	15.37:g.43714220_43714222delGGA	ENSP00000263801:p.Ser1307del					TP53BP1_ENST00000450115.2_In_Frame_Del_p.S1312del|TP53BP1_ENST00000382039.3_In_Frame_Del_p.S1312del|TP53BP1_ENST00000382044.4_In_Frame_Del_p.S1312del	p.S1307del	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	19	4171_4173	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1307					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	In_Frame_Del	DEL	ENST00000263801.3	37	c.3919_3921delTCC	CCDS10096.1																																																																																				0.537	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			59	96						59	96	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99500458	99500468	+	Frame_Shift_Del	DEL	AGAGAACATGG	AGAGAACATGG	-	rs376413435		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:99500458_99500468delAGAGAACATGG	ENST00000268035.6	+	21	4502_4512	c.3891_3901delAGAGAACATGG	c.(3889-3903)ccagagaacatggagfs	p.ENME1298fs	IGF1R_ENST00000558762.1_Frame_Shift_Del_p.ENME1297fs|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1298					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACCTGGAGCCAGAGAACATGGAGAGCGTCCC	0.654																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3889-3903)ccagfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500458_99500468delAGAGAACATGG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3891_3901delAGAGAACATGG	15.37:g.99500458_99500468delAGAGAACATGG	ENSP00000268035:p.Glu1298fs					RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Frame_Shift_Del_p.PENME1296fs	p.PENME1297fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4502_4512	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1297					B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Del	DEL	ENST00000268035.6	37	c.3891_3901delAGAGAACATGG	CCDS10378.1																																																																																				0.654	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		9	40						9	40	---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3169511	3169513	+	In_Frame_Del	DEL	GAG	GAG	-	rs369182482		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:3169511_3169513delGAG	ENST00000382192.3	+	7	1055_1057	c.850_852delGAG	c.(850-852)gagdel	p.E286del	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_In_Frame_Del_p.E286del|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	286					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E284E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GAAGCCCAACGAGGAGGAGAAGG	0.704																																						ENST00000382192.3																			1	Substitution - coding silent(1)	p.E284E(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(850-852)del		zinc finger protein 205			,	0,4230		0,0,2115					,	-4.8	0.0			22	6,8232		3,0,4116	no	coding,coding	ZNF205	NM_003456.2,NM_001042428.1	,	3,0,6231	A1A1,A1R,RR		0.0728,0.0,0.0481	,	,		6,12462				SO:0001651	inframe_deletion	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169511_3169513delGAG	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.850_852delGAG	16.37:g.3169517_3169519delGAG	ENSP00000371627:p.Glu286del					RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_In_Frame_Del_p.E286del|RP11-473M20.14_ENST00000576490.1_RNA	p.E286del	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1055_1057	+			286					A8MZK0|D3DUB4|Q9BU95	In_Frame_Del	DEL	ENST00000382192.3	37	c.850_852delGAG	CCDS10494.2																																																																																				0.704	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		7	7						7	7	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			0							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		10	71						10	71	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823529	32823530	+	lincRNA	INS	-	-	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:32823529_32823530insG	ENST00000569859.1	+	0	373																											TCCGCGGCGGCGGGGGGACAAA	0.653																																						ENST00000569859.1																			0																																																			0							g.chr16:32823529_32823530insG																													16.37:g.32823535_32823535dupG														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.653	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			5	8						5	8	---	---	---	---
GINS2	51659	broad.mit.edu	37	16	85711840	85711841	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:85711840_85711841delCT	ENST00000253462.3	-	5	635_636	c.535_536delAG	c.(535-537)agtfs	p.S179fs		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	179					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGACTGAGTACTCTCCAGAGGC	0.554																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(535-537)tfs		GINS complex subunit 2 (Psf2 homolog)																																				SO:0001589	frameshift_variant	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85711840_85711841delCT	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.535_536delAG	16.37:g.85711842_85711843delCT	ENSP00000253462:p.Ser179fs						p.S179fs	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			5	635_636	-			179					D3DUM5|Q6IAG9	Frame_Shift_Del	DEL	ENST00000253462.3	37	c.535_536delAG	CCDS10953.1																																																																																				0.554	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		45	63						45	63	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1579871	1579874	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:1579871_1579874delACAA	ENST00000572621.1	-	15	2578_2581	c.2313_2316delTTGT	c.(2311-2316)gtttgtfs	p.VC771fs	PRPF8_ENST00000304992.6_Frame_Shift_Del_p.VC771fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	771					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATTCTTTTTACAAACAGTCTTGT	0.574																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2311-2316)gtfs		pre-mRNA processing factor 8																																				SO:0001589	frameshift_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1579871_1579874delACAA	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2313_2316delTTGT	17.37:g.1579871_1579874delACAA	ENSP00000460348:p.Val771fs					PRPF8_ENST00000304992.6_Frame_Shift_Del_p.VC771fs	p.VC771fs			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	15	2578_2581	-			771					O14547|O75965	Frame_Shift_Del	DEL	ENST00000572621.1	37	c.2313_2316delTTGT	CCDS11010.1																																																																																				0.574	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			15	429						15	429	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193626	7193628	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:7193626_7193628delAGA	ENST00000007699.5	-	5	749_751	c.686_688delTCT	c.(685-690)ttctac>tac	p.F229del	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	229	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGCCGTCGGTAGAAGAAGGGTGG	0.65																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(685-690)tac>t		Y box binding protein 2																																				SO:0001651	inframe_deletion	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193626_7193628delAGA	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.686_688delTCT	17.37:g.7193629_7193631delAGA	ENSP00000007699:p.Phe229del						p.FY229del	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	749_751	-			229			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	In_Frame_Del	DEL	ENST00000007699.5	37	c.686_688delTCT	CCDS11098.1																																																																																				0.650	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		97	156						97	156	---	---	---	---
KRTAP4-5	85289	broad.mit.edu	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192					ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(244-246)gac>GCCCCAGCTGCTGCCgac		keratin associated protein 4-5																																				SO:0001652	inframe_insertion	85289					keratin filament		g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys						p.81_82insAPAAA	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	278_279	-		Breast(137;0.000496)	81		Missing (in allele KAP4.5-v1).	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			In_Frame_Ins	INS	ENST00000343246.4	37	c.244_245insGCCCCAGCTGCTGCC	CCDS32650.1																																																																																				0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			49	10						49	10	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		156	41						156	41	---	---	---	---
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166|rs66906990	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgtcctggcccgfs	p.CPGP367fs	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657														157	0.0313498	0.09	0.0173	5008	,	,		17776	0.0		0.0119	False		,,,				2504	0.0143					ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1099-1110)tgfs		galanin receptor 2				205,3565		39,127,1719						-4.3	0.0		dbSNP_130	5	75,7411		6,63,3674	no	frameshift	GALR2	NM_003857.2		45,190,5393	A1A1,A1R,RR		1.0019,5.4377,2.4876				280,10976				SO:0001589	frameshift_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073448_74073457delGTCCTGGCCC	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.1100_1109delGTCCTGGCCC	17.37:g.74073448_74073457delGTCCTGGCCC	ENSP00000329684:p.Cys367fs						p.CPGP367fs	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	1190_1199	+			367					A5JUU4|Q32MN8	Frame_Shift_Del	DEL	ENST00000329003.3	37	c.1100_1109delGTCCTGGCCC	CCDS11739.1																																																																																				0.657	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			6	4						6	4	---	---	---	---
MADCAM1	8174	broad.mit.edu	37	19	501701	501702	+	In_Frame_Ins	INS	-	-	ACACCACCTCCCCGGAGCCTCCCA	rs71171990|rs72970252	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENST00000215637.3	+	4	746_747	c.700_701insACACCACCTCCCCGGAGCCTCCCA	c.(700-702)gac>gACACCACCTCCCCGGAGCCTCCCAac	p.234_235insTTSPEPPN	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_In_Frame_Ins_p.15_16insTTSPEPPN	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	234	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCTCCCGACACCACCTCC	0.653																																						ENST00000587541.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(43-45)cac>ACACCACCTCCCCGGAGCCTCCCAcac		mucosal vascular addressin cell adhesion molecule 1																																				SO:0001652	inframe_insertion	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	Exception_encountered	19.37:g.501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENSP00000215637:p.Asp234_Thr235insThrThrSerProGluProProAsn					MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000215637.3_In_Frame_Ins_p.233_234insTPPPRSLP	p.14_15insTPPPRSLP			Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	897_898	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	233					A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	In_Frame_Ins	INS	ENST00000215637.3	37	c.43_44insACACCACCTCCCCGGAGCCTCCCA	CCDS12028.1																																																																																				0.653	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		20	41						20	41	---	---	---	---
CACTIN	58509	broad.mit.edu	37	19	3613226	3613227	+	In_Frame_Ins	INS	-	-	CCTCGC	rs377027152	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:3613226_3613227insCCTCGC	ENST00000429344.2	-	9	1667_1668	c.1615_1616insGCGAGG	c.(1615-1617)gcg>gGCGAGGcg	p.538_539insGE	CACTIN_ENST00000248420.5_In_Frame_Ins_p.538_539insGE|CACTIN_ENST00000221899.3_In_Frame_Ins_p.470_471insGE|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	538					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CATGAGCACCGCCTCGCCCTCG	0.748																																						ENST00000429344.2																			0											c.(1615-1617)ggt>GCGAGGggt		cactin, spliceosome C complex subunit																																				SO:0001652	inframe_insertion	58509							g.chr19:3613226_3613227insCCTCGC	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1610_1615dupGCGAGG	19.37:g.3613227_3613232dupCCTCGC	ENSP00000415078:p.Gly537_Glu538dup					CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_In_Frame_Ins_p.470_471insAR|CACTIN_ENST00000248420.5_In_Frame_Ins_p.538_539insAR	p.538_539insAR	NM_001080543.1	NP_001074012.1					9	1667_1668	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	In_Frame_Ins	INS	ENST00000429344.2	37	c.1615_1616insGCGAGG	CCDS45920.1																																																																																				0.748	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			14	50						14	50	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		8	283						8	283	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:42795197_42795198delTG	ENST00000575354.2	+	10	2317_2318	c.2277_2278delTG	c.(2275-2280)actgtcfs	p.V760fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V760fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.V1669fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	760	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCCTGCCACTGTCACTAACCT	0.668			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5002-5007)actcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795197_42795198delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2277_2278delTG	19.37:g.42795197_42795198delTG	ENSP00000458663:p.Val760fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TV759fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV759fs	p.TV1668fs			Q96RK0	CIC_HUMAN			11	5072_5073	+		Prostate(69;0.00682)	759					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5004_5005delTG	CCDS12601.1																																																																																				0.668	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	3						15	3	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33588814	33588816	+	IGR	DEL	GAA	GAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:33588814_33588816delGAA	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_In_Frame_Del_p.K1820del			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGAGGAGCTGAAGAAGGAGCAG	0.635																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5452-5457)ctg>ct		myosin, heavy chain 7B, cardiac muscle, beta				4,4254		2,0,2127						4.6	1.0			69	7,8245		3,1,4122	no	coding	MYH7B	NM_020884.3		5,1,6249	A1A1,A1R,RR		0.0848,0.0939,0.0879				11,12499				SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588814_33588816delGAA	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588817_33588819delGAA							p.LK1818del	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5546_5548	+			1776					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	In_Frame_Del	DEL	ENST00000252015.2	37	c.5454_5456delGAA	CCDS13246.1																																																																																				0.635	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		44	75						44	75	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																						ENST00000357552.3																			1	Deletion - Frameshift(1)	p.M788fs*1(1)	ovary(1)	NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2362-2364)tgfs		synaptonemal complex protein 2							72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467047delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs	p.M788fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2587	-	all_lung(29;0.00344)		788					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.2362delA	CCDS13482.1																																																																																				0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	120						8	120	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del|SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cca>c		SR-related CTD-associated factor 4																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del	p.QP966del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3279_3281	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		10	209						10	209	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs200984527|rs370803228		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr22:29885599_29885604delAGGAAG	ENST00000310624.6	+	4	2003_2008	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1969-1977)aag>a		neurofilament, heavy polypeptide																																				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885599_29885604delAGGAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1970_1975delAGGAAG	22.37:g.29885599_29885604delAGGAAG	ENSP00000311997:p.Glu658_Glu659del						p.KEE657del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2003_2008	+			663			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.1970_1975delAGGAAG	CCDS13858.1																																																																																				0.558	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		37	179						37	179	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	9						5	9	---	---	---	---
