#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	623	0	0	0	1	0	7	623				
STXBP5	134957	broad.mit.edu	37	6	147684586	147684586	+	Silent	SNP	A	A	G			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:147684586A>G	ENST00000321680.6	+	24	2661	c.2661A>G	c.(2659-2661)aaA>aaG	p.K887K	STXBP5_ENST00000367481.3_Silent_p.K851K|STXBP5_ENST00000179882.6_Silent_p.K542K|STXBP5_ENST00000367480.3_Silent_p.K834K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	887					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGAAGAAAAAGACGAAAAGG	0.433																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2551-2553)aaA>aaG		syntaxin binding protein 5 (tomosyn)							72.0	79.0	77.0					6																	147684586		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684586A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2661A>G	6.37:g.147684586A>G						STXBP5_ENST00000321680.6_Silent_p.K887K|STXBP5_ENST00000179882.6_Silent_p.K542K|STXBP5_ENST00000367480.3_Silent_p.K834K	p.K851K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	22	2661	+		Ovarian(120;0.0164)	887					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2553A>G	CCDS47499.1																																																																																				0.433	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			4	260	0	0	0	1	0	4	260				
MSH6	2956	broad.mit.edu	37	2	48010515	48010515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:48010515C>T	ENST00000234420.5	+	1	295	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MSH6_ENST00000538136.1_5'Flank|MSH6_ENST00000540021.1_Missense_Mutation_p.A48V|RNU6-688P_ENST00000516063.1_RNA	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	48				AAPGASPSPGGDAAWSEAGPGP -> GCPRGLSFPRRGCGL ERGWAWA (in Ref. 2; BAA23674/BAA23675). {ECO:0000305}.	ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCGGGGATGCGGCCTGGAGC	0.746			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(142-144)gCg>gTg	Mismatch excision repair (MMR)	mutS homolog 6							6.0	7.0	6.0					2																	48010515		1985	3888	5873	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48010515C>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.143C>T	2.37:g.48010515C>T	ENSP00000234420:p.Ala48Val					MSH6_ENST00000540021.1_Missense_Mutation_p.A48V	p.A48V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	295	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	48	AAPGASPSPGGDAAWSEAGPGP -> GCPRGLSFPRRGCGL ERGWAWA (in Ref. 2; BAA23674/BAA23675).				B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.143C>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103208	0.37145	.	.	ENSG00000116062	ENST00000234420;ENST00000446255;ENST00000540021	D;D	0.87256	-1.91;-2.23	4.78	0.659	0.17861	.	0.863088	0.10251	N	0.697147	T	0.73666	0.3616	N	0.24115	0.695	0.80722	D	1	B;B;B	0.18968	0.019;0.019;0.032	B;B;B	0.12156	0.003;0.003;0.007	T	0.61715	-0.7006	10	0.32370	T	0.25	-3.8968	1.6151	0.02701	0.3987:0.3096:0.1302:0.1615	.	48;48;48	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	48	ENSP00000234420:A48V;ENSP00000446475:A48V	ENSP00000234420:A48V	A	+	2	0	MSH6	47864019	0.105000	0.21958	0.994000	0.49952	0.561000	0.35649	-0.676000	0.05221	0.089000	0.17243	0.313000	0.20887	GCG		0.746	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		4	106	0	0	0	1	0	4	106				
BACE2	25825	broad.mit.edu	37	21	42613839	42613839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr21:42613839C>T	ENST00000330333.6	+	4	1175	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.P238S|BACE2_ENST00000347667.5_Missense_Mutation_p.P238S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	238					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGCCGGCTTGCCCGTTGCTGG	0.502																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(712-714)Ccc>Tcc		beta-site APP-cleaving enzyme 2							173.0	178.0	177.0					21																	42613839		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613839C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.712C>T	21.37:g.42613839C>T	ENSP00000332979:p.Pro238Ser					BACE2_ENST00000328735.6_Missense_Mutation_p.P238S|BACE2_ENST00000347667.4_Missense_Mutation_p.P238S|BACE2_ENST00000466122.1_3'UTR	p.P238S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			4	1175	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	238					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.712C>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201262	0.38905	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.41758	0.99;0.99;0.99	5.53	5.53	0.82687	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.054012	0.85682	D	0.000000	T	0.32436	0.0829	L	0.29908	0.895	0.54753	D	0.999985	B;P;P	0.44195	0.015;0.828;0.559	B;B;B	0.36885	0.005;0.235;0.077	T	0.07028	-1.0794	10	0.32370	T	0.25	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	238;238;238	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	S	238;238;238;143	ENSP00000332979:P238S;ENSP00000327528:P238S;ENSP00000333854:P238S	ENSP00000333854:P238S	P	+	1	0	BACE2	41535709	1.000000	0.71417	0.917000	0.36280	0.573000	0.36030	3.314000	0.51943	2.605000	0.88082	0.655000	0.94253	CCC		0.502	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			7	760	0	0	0	1	0	7	760				
CRISPLD2	83716	broad.mit.edu	37	16	84906612	84906612	+	Silent	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:84906612C>T	ENST00000262424.5	+	10	1220	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_ENST00000567845.1_Silent_p.C331C|CRISPLD2_ENST00000564567.1_Silent_p.C332C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	332	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.C332C(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542																																						ENST00000262424.5																			1	Substitution - coding silent(1)	p.C332C(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(994-996)tgC>tgT		cysteine-rich secretory protein LCCL domain containing 2							104.0	101.0	102.0					16																	84906612		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906612C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.996C>T	16.37:g.84906612C>T						CRISPLD2_ENST00000567845.1_Silent_p.C331C|CRISPLD2_ENST00000564567.1_Silent_p.C332C	p.C332C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			10	1220	+			332			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.996C>T	CCDS10949.1																																																																																				0.542	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	462	0	0	0	1	0	6	462				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	151	0	0	0	1	0	5	151				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	155	0	0	0	1	0	5	155				
SLC12A2	6558	broad.mit.edu	37	5	127448571	127448571	+	Silent	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr5:127448571G>A	ENST00000262461.2	+	2	1011	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_ENST00000343225.4_Silent_p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	274					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTGTGGTCACGTATACTGCAG	0.368																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(820-822)acG>acA		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						127.0	123.0	124.0					5																	127448571		2203	4300	6503	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127448571G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.822G>A	5.37:g.127448571G>A						SLC12A2_ENST00000343225.4_Silent_p.T274T	p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	2	1011	+		all_cancers(142;0.0972)|Prostate(80;0.151)	274					Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.822G>A	CCDS4144.1																																																																																				0.368	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		5	440	0	0	0	1	0	5	440				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	178	0	0	0	1	0	5	178				
SHMT1	6470	broad.mit.edu	37	17	18243536	18243536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:18243536G>A	ENST00000316694.3	-	7	769	c.635C>T	c.(634-636)gCc>gTc	p.A212V	SHMT1_ENST00000354098.3_Missense_Mutation_p.A212V|SHMT1_ENST00000539052.1_Missense_Mutation_p.A74V|SHMT1_ENST00000352886.6_Missense_Mutation_p.A212V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	212					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCGTAGCCGGGCATATTCCAG	0.587																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(634-636)gCc>gTc		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						94.0	85.0	88.0					17																	18243536		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18243536G>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.635C>T	17.37:g.18243536G>A	ENSP00000318868:p.Ala212Val					SHMT1_ENST00000354098.3_Missense_Mutation_p.A212V|SHMT1_ENST00000352886.6_Missense_Mutation_p.A212V|SHMT1_ENST00000539052.1_Missense_Mutation_p.A74V	p.A212V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			7	769	-			212					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.635C>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192529	0.58017	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	1.24	0.21308	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.455087	0.26522	N	0.023920	T	0.49372	0.1553	M	0.87097	2.86	0.28061	N	0.932986	B;B;B	0.30104	0.268;0.106;0.098	B;B;B	0.40565	0.333;0.101;0.137	T	0.54443	-0.8293	10	0.66056	D	0.02	-28.0739	11.7078	0.51607	0.0:0.1102:0.5751:0.3147	.	212;212;212	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	V	212;212;74;212;212	ENSP00000318868:A212V;ENSP00000345881:A212V;ENSP00000440089:A74V;ENSP00000318805:A212V	ENSP00000318868:A212V	A	-	2	0	SHMT1	18184261	0.913000	0.31002	0.006000	0.13384	0.646000	0.38490	2.468000	0.45102	0.089000	0.17243	0.655000	0.94253	GCC		0.587	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		5	345	0	0	0	1	0	5	345				
DUSP26	78986	broad.mit.edu	37	8	33454858	33454858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr8:33454858C>A	ENST00000256261.4	-	2	693	c.176G>T	c.(175-177)tGt>tTt	p.C59F	DUSP26_ENST00000523956.1_Missense_Mutation_p.C59F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	59					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCATGGTTACAGGCTGTCTT	0.562																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(175-177)tGt>tTt		dual specificity phosphatase 26 (putative)							66.0	49.0	55.0					8																	33454858		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33454858C>A	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.176G>T	8.37:g.33454858C>A	ENSP00000256261:p.Cys59Phe					DUSP26_ENST00000523956.1_Missense_Mutation_p.C59F	p.C59F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	2	693	-			59					D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.176G>T	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405082	0.62288	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.59502	0.26;0.26;0.26	5.5	5.5	0.81552	.	0.432553	0.29417	N	0.012215	T	0.49270	0.1547	L	0.47190	1.495	0.49389	D	0.999786	B	0.31680	0.335	B	0.34590	0.186	T	0.38585	-0.9654	10	0.11794	T	0.64	-28.3595	12.3666	0.55232	0.0:0.922:0.0:0.078	.	59	Q9BV47	DUS26_HUMAN	F	59	ENSP00000256261:C59F;ENSP00000429176:C59F;ENSP00000430922:C59F	ENSP00000256261:C59F	C	-	2	0	DUSP26	33574400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.304000	0.78882	2.590000	0.87494	0.561000	0.74099	TGT		0.562	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		4	107	1	0	1.23904e-05	1	1.38604e-05	4	107				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	366	0	0	0	1	0	7	366				
SLC35B2	347734	broad.mit.edu	37	6	44223293	44223293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:44223293G>A	ENST00000393812.3	-	4	592	c.449C>T	c.(448-450)aCg>aTg	p.T150M	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.T17M|SLC35B2_ENST00000538577.1_Missense_Mutation_p.T57M|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	150					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCGAGTCCGTAAAGCGCTC	0.592																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(448-450)aCg>aTg		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							93.0	91.0	92.0					6																	44223293		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44223293G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.449C>T	6.37:g.44223293G>A	ENSP00000377401:p.Thr150Met					SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.T17M|SLC35B2_ENST00000538577.1_Missense_Mutation_p.T57M|SLC35B2_ENST00000495706.1_5'UTR	p.T150M	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	592	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		150					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.449C>T	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000048	0.54147	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.31769	1.48;1.48;1.48	5.79	5.79	0.91817	.	0.287528	0.38058	N	0.001825	T	0.43366	0.1244	M	0.85041	2.73	0.30326	N	0.78713	D;P	0.76494	0.999;0.92	P;P	0.61275	0.886;0.629	T	0.52223	-0.8604	10	0.59425	D	0.04	-12.4886	10.0146	0.42008	0.0:0.1231:0.6893:0.1876	.	57;150	F5H7Y9;Q8TB61	.;S35B2_HUMAN	M	150;17;57;150	ENSP00000377401:T150M;ENSP00000440340:T17M;ENSP00000443845:T57M	ENSP00000342455:T150M	T	-	2	0	SLC35B2	44331271	0.973000	0.33851	0.977000	0.42913	0.812000	0.45895	1.874000	0.39568	2.750000	0.94351	0.561000	0.74099	ACG		0.592	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			5	317	0	0	0	1	0	5	317				
AKT3	10000	broad.mit.edu	37	1	243736307	243736307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:243736307C>T	ENST00000366539.1	-	9	940	c.740G>A	c.(739-741)cGc>cAc	p.R247H	AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAACGTGTGCGGTCCTCAGA	0.418																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(739-741)cGc>cAc		v-akt murine thymoma viral oncogene homolog 3							73.0	71.0	72.0					1																	243736307		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736307C>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.740G>A	1.37:g.243736307C>T	ENSP00000355497:p.Arg247His					AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H	p.R247H			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	940	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	247			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.740G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395614	0.96009	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.59825	0.864;0.634	T	0.70490	-0.4857	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	247;247	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	247	ENSP00000336943:R247H;ENSP00000355498:R247H;ENSP00000355497:R247H;ENSP00000263826:R247H	ENSP00000263826:R247H	R	-	2	0	AKT3	241802930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGC		0.418	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		4	284	0	0	0	1	0	4	284				
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276.0	267.0	270.0					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser						p.P1976S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1311	0	0	0	1	0	8	1311				
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	448	0	0	0	1	0	7	448				
SACS	26278	broad.mit.edu	37	13	23911703	23911703	+	Silent	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr13:23911703C>T	ENST00000382292.3	-	9	6585	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_ENST00000382298.3_Silent_p.G2104G|SACS_ENST00000402364.1_Silent_p.G1354G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2104					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6310-6312)ggG>ggA		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	62.0	62.0					13																	23911703		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911703C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6312G>A	13.37:g.23911703C>T						SACS_ENST00000402364.1_Silent_p.G1354G|SACS_ENST00000382292.3_Silent_p.G2104G	p.G2104G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6900	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2104					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.6312G>A	CCDS9300.2																																																																																				0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	260	0	0	0	1	0	4	260				
RYR3	6263	broad.mit.edu	37	15	33955010	33955010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr15:33955010C>T	ENST00000389232.4	+	35	5349	c.5279C>T	c.(5278-5280)gCg>gTg	p.A1760V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1760V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1760	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGCATAGTGCGGGGACAGAG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5278-5280)gCg>gTg		ryanodine receptor 3							140.0	150.0	147.0					15																	33955010		2056	4213	6269	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955010C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5279C>T	15.37:g.33955010C>T	ENSP00000373884:p.Ala1760Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A1760V	p.A1760V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5349	+		all_lung(180;7.18e-09)	1760			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5279C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	2.462	-0.323806	0.05350	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72282	-0.64;-0.64	5.11	-1.47	0.08772	.	0.629031	0.15845	N	0.241811	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.13145	0.007;0.003	B;B	0.06405	0.002;0.001	T	0.44174	-0.9345	10	0.36615	T	0.2	.	12.3264	0.55013	0.0921:0.628:0.2798:0.0	.	1760;1760	Q15413-2;Q15413	.;RYR3_HUMAN	V	1760	ENSP00000373884:A1760V;ENSP00000399610:A1760V	ENSP00000354735:A1760V	A	+	2	0	RYR3	31742302	0.129000	0.22400	0.001000	0.08648	0.014000	0.08584	0.478000	0.22212	-0.100000	0.12241	-0.165000	0.13383	GCG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	289	0	0	0	1	0	5	289				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	48	0	0	0	1	0	7	48				
NPNT	255743	broad.mit.edu	37	4	106859478	106859478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:106859478G>A	ENST00000379987.2	+	5	622	c.406G>A	c.(406-408)Gca>Aca	p.A136T	NPNT_ENST00000305572.8_Missense_Mutation_p.A136T|NPNT_ENST00000427316.2_Missense_Mutation_p.A166T|NPNT_ENST00000506666.1_Missense_Mutation_p.A166T|NPNT_ENST00000514622.1_Missense_Mutation_p.A136T|NPNT_ENST00000453617.2_Missense_Mutation_p.A153T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	136	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CTGCTCCATGGCAAACTGTCA	0.498																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(406-408)Gca>Aca		nephronectin							95.0	87.0	90.0					4																	106859478		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106859478G>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.406G>A	4.37:g.106859478G>A	ENSP00000369323:p.Ala136Thr					NPNT_ENST00000514622.1_Missense_Mutation_p.A136T|NPNT_ENST00000506666.1_Missense_Mutation_p.A166T|NPNT_ENST00000305572.8_Missense_Mutation_p.A136T|NPNT_ENST00000453617.2_Missense_Mutation_p.A153T|NPNT_ENST00000427316.2_Missense_Mutation_p.A166T	p.A136T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	5	622	+		Hepatocellular(203;0.217)	136			EGF-like 3.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.406G>A	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.823035|4.823035	0.90873|0.90873	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;T;D;D;T;T|.	0.87334|.	-2.24;-2.24;-2.24;-0.96;-2.24;-2.24;-0.95;-0.12|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Epidermal growth factor-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.31845|0.31845	0.965|0.965	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B;D;B;D;D|.	0.71674|.	0.998;0.112;0.112;0.983;0.112;0.983;0.997|.	D;B;B;P;B;P;D|.	0.83275|.	0.995;0.118;0.168;0.833;0.118;0.854;0.996|.	T|T	0.54193|0.54193	-0.8330|-0.8330	10|5	0.10111|.	T|.	0.7|.	.|.	19.1259|19.1259	0.93384|0.93384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;166;166;153;183;136;136|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	T|D	32;136;153;166;136;136;166;183|112	ENSP00000426951:A32T;ENSP00000369323:A136T;ENSP00000402884:A153T;ENSP00000389252:A166T;ENSP00000422044:A136T;ENSP00000302557:A136T;ENSP00000422474:A166T;ENSP00000426146:A183T|.	ENSP00000302557:A136T|.	A|G	+|+	1|2	0|0	NPNT|NPNT	107078927|107078927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.357000|9.357000	0.97099|0.97099	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.498	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		4	262	0	0	0	1	0	4	262				
ANK3	288	broad.mit.edu	37	10	61828729	61828729	+	Silent	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr10:61828729G>A	ENST00000280772.2	-	37	12101	c.11910C>T	c.(11908-11910)acC>acT	p.T3970T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						tggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11910)acC>acT		ankyrin 3, node of Ranvier (ankyrin G)							78.0	86.0	83.0					10																	61828729		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828729G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910C>T	10.37:g.61828729G>A						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.T3970T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101	-			3970			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11910C>T	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	433	0	0	0	1	0	5	433				
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs377546716		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATAACTAATCCCTTTTCTTCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			2	Substitution - coding silent(2)	p.R529R(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1585-1587)agG>agA		UDP glucuronosyltransferase 2 family, polypeptide B17							82.0	79.0	80.0					4																	69403349		2114	4002	6116	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403349C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T							p.R529R	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1629	-			529						Silent	SNP	ENST00000317746.2	37	c.1587G>A	CCDS3523.1																																																																																				0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		6	591	0	0	0	1	0	6	591				
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:64085080G>A	ENST00000295902.6	-	8	2767	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2182-2184)Cgc>Tgc		prickle homolog 2 (Drosophila)							46.0	50.0	48.0					3																	64085080		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085080G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2182C>T	3.37:g.64085080G>A	ENSP00000295902:p.Arg728Cys					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C	p.R728C	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2767	-		Lung NSC(201;0.136)	728			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2182C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404454	0.42613	.	.	ENSG00000163637	ENST00000295902	D	0.84873	-1.91	5.33	5.33	0.75918	.	0.236745	0.37669	N	0.001984	T	0.76572	0.4006	N	0.22421	0.69	0.45930	D	0.998765	P	0.41978	0.767	B	0.34452	0.183	T	0.78868	-0.2034	10	0.45353	T	0.12	-43.1434	19.3767	0.94512	0.0:0.0:1.0:0.0	.	728	Q7Z3G6	PRIC2_HUMAN	C	728	ENSP00000295902:R728C	ENSP00000295902:R728C	R	-	1	0	PRICKLE2	64060120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.328000	0.52052	2.651000	0.90000	0.591000	0.81541	CGC		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	223	0	0	0	1	0	4	223				
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(457-459)tCg>tTg		olfactory receptor, family 10, subfamily H, member 2							91.0	75.0	81.0					19																	15839311		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839311C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu						p.S153L	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	478	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		153					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.458C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			5	252	0	0	0	1	0	5	252				
GPR124	25960	broad.mit.edu	37	8	37698695	37698695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr8:37698695G>A	ENST00000412232.2	+	19	2852	c.2839G>A	c.(2839-2841)Ggg>Agg	p.G947R	GPR124_ENST00000315215.7_Missense_Mutation_p.G730R	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	947					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTGTGCGCCGGGCTACGCTT	0.627																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2188-2190)Ggg>Agg		G protein-coupled receptor 124							76.0	82.0	80.0					8																	37698695		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698695G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2839G>A	8.37:g.37698695G>A	ENSP00000406367:p.Gly947Arg					GPR124_ENST00000412232.2_Missense_Mutation_p.G947R	p.G730R			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2551	+			947			GPS.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2188G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488945	0.64074	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	4.86	4.86	0.63082	.	0.135048	0.50627	D	0.000110	T	0.47021	0.1423	N	0.24115	0.695	0.46499	D	0.999077	P;D	0.71674	0.889;0.998	B;P	0.60415	0.154;0.874	T	0.37753	-0.9692	10	0.27785	T	0.31	-27.2766	17.9767	0.89129	0.0:0.0:1.0:0.0	.	730;947	Q96PE1-2;Q96PE1	.;GP124_HUMAN	R	940;730;947	ENSP00000323508:G730R;ENSP00000406367:G947R	ENSP00000323508:G730R	G	+	1	0	GPR124	37817853	1.000000	0.71417	0.986000	0.45419	0.881000	0.50899	3.905000	0.56333	2.242000	0.73789	0.655000	0.94253	GGG		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	281	0	0	0	1	0	5	281				
CLN5	1203	broad.mit.edu	37	13	77570161	77570161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr13:77570161C>T	ENST00000377453.3	+	3	1903	c.611C>T	c.(610-612)gCc>gTc	p.A204V	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	155					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GAAATGGATGCCCCTTTCTGG	0.418																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(610-612)gCc>gTc		ceroid-lipofuscinosis, neuronal 5							176.0	161.0	166.0					13																	77570161		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570161C>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.611C>T	13.37:g.77570161C>T	ENSP00000366673:p.Ala204Val					CLN5_ENST00000485938.1_3'UTR	p.A204V	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	1903	+		Acute lymphoblastic leukemia(28;0.205)	155					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.611C>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094188	0.94149	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.88975	-2.45	5.54	4.67	0.58626	.	0.100063	0.64402	D	0.000002	D	0.92430	0.7597	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	D	0.92220	0.5783	10	0.52906	T	0.07	-12.9722	13.4957	0.61424	0.281:0.719:0.0:0.0	.	155	O75503	CLN5_HUMAN	V	204;155;70	ENSP00000366673:A204V	ENSP00000366673:A204V	A	+	2	0	CLN5	76468162	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.803000	0.62546	2.618000	0.88619	0.563000	0.77884	GCC		0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		6	506	0	0	0	1	0	6	506				
DNM1P46	196968	broad.mit.edu	37	15	100340379	100340379	+	RNA	SNP	T	T	C	rs543954261	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr15:100340379T>C	ENST00000341853.1	-	0	547					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGCCTACTCTGCCGACTCCT	0.592													.|||	37	0.00738818	0.0272	0.0014	5008	,	,		22151	0.0		0.0	False		,,,				2504	0.0					ENST00000341853.1																			0																				16.0	17.0	17.0					15																	100340379		1191	3054	4245			0							g.chr15:100340379T>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340379T>C								NR_003260.1						0	547	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.592	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		5	72	0	0	0	1	0	5	72				
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T	rs376026730		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(163-165)ccG>ccA		interleukin 17B		C		0,4406		0,0,2203	105.0	99.0	101.0		165	-9.9	0.0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL17B	NM_014443.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/181	148756445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756445C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.165G>A	5.37:g.148756445C>T						IL17B_ENST00000505432.1_5'UTR	p.P55P	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	215	-			55					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.165G>A	CCDS4297.1																																																																																				0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		6	344	0	0	0	1	0	6	344				
EFCAB12	90288	broad.mit.edu	37	3	129140359	129140359	+	Missense_Mutation	SNP	G	G	A	rs201014037	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:129140359G>A	ENST00000505956.1	-	2	499	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R113W	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	113							calcium ion binding (GO:0005509)										AGCTCCTGCCGCAGCTTCGAC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20174	0.0		0.0	False		,,,				2504	0.0					ENST00000505956.1																			0											c.(337-339)Cgg>Tgg		EF-hand calcium binding domain 12		G	TRP/ARG	3,4009		0,3,2003	94.0	93.0	93.0		337	3.1	0.0	3		93	0,8360		0,0,4180	yes	missense	C3orf25	NM_207307.1	101	0,3,6183	AA,AG,GG		0.0,0.0748,0.0242	probably-damaging	113/573	129140359	3,12369	2006	4180	6186	SO:0001583	missense	90288							g.chr3:129140359G>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.337C>T	3.37:g.129140359G>A	ENSP00000420854:p.Arg113Trp					EFCAB12_ENST00000326085.3_Missense_Mutation_p.R113W	p.R113W	NM_207307.1	NP_997190.1					2	499	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.337C>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817157	0.50633	7.48E-4	0.0	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.19250	2.16;2.16	3.97	3.06	0.35304	.	0.811674	0.10331	N	0.687513	T	0.33206	0.0855	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.12477	-1.0546	10	0.87932	D	0	-34.2827	8.6439	0.33994	0.0:0.0:0.7449:0.2551	.	113	Q6NXP0	CC025_HUMAN	W	113	ENSP00000420854:R113W;ENSP00000324241:R113W	ENSP00000324241:R113W	R	-	1	2	C3orf25	130623049	0.082000	0.21442	0.028000	0.17463	0.074000	0.17049	0.879000	0.28146	1.176000	0.42840	0.655000	0.94253	CGG		0.552	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		4	187	0	0	0	1	0	4	187				
SIGLEC11	114132	broad.mit.edu	37	19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T	rs201115105		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33.0	38.0	36.0					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	238	0	0	0	1	0	5	238				
CDC5L	988	broad.mit.edu	37	6	44392244	44392244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:44392244C>T	ENST00000371477.3	+	11	1792	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	498	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGAAAATGCCGAGAAGGAG	0.438																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1492-1494)gCc>gTc		cell division cycle 5-like							111.0	100.0	104.0					6																	44392244		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44392244C>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1493C>T	6.37:g.44392244C>T	ENSP00000360532:p.Ala498Val						p.A498V	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1792	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		498			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1493C>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263269	0.59431	.	.	ENSG00000096401	ENST00000371477	T	0.46819	0.86	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	L	0.41027	1.25	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.04017	-1.0984	10	0.38643	T	0.18	-14.1071	20.6208	0.99490	0.0:1.0:0.0:0.0	.	498	Q99459	CDC5L_HUMAN	V	498	ENSP00000360532:A498V	ENSP00000360532:A498V	A	+	2	0	CDC5L	44500222	1.000000	0.71417	0.983000	0.44433	0.933000	0.57130	6.084000	0.71335	2.882000	0.98803	0.655000	0.94253	GCC		0.438	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	183	0	0	0	1	0	4	183				
MAPK8IP2	23542	broad.mit.edu	37	22	51045410	51045410	+	Missense_Mutation	SNP	G	G	A	rs368151558		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr22:51045410G>A	ENST00000399908.2	+	8	2212	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R470H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R385H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R499H|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R487H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R764H	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	765					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCATCCCCGCAACAGCTGG	0.612																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1495-1497)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 2							67.0	72.0	70.0					22																	51045410		2080	4211	6291	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51045410G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1496G>A	22.37:g.51045410G>A	ENSP00000382792:p.Arg499His					MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R470H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R764H|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R487H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R499H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R385H	p.R499H	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	2212	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	765					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1496G>A		.	.	.	.	.	.	.	.	.	.	G	19.23	3.787841	0.70337	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.19105	2.51;2.51;2.51;2.51;2.51;2.17	4.42	4.42	0.53409	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.055392	0.64402	D	0.000002	T	0.47173	0.1431	.	.	.	0.48632	D	0.999683	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.52555	-0.8560	9	0.87932	D	0	-12.3719	14.5639	0.68162	0.0:0.0:1.0:0.0	.	737;765	E7EQG6;Q13387	.;JIP2_HUMAN	H	499;764;487;385;499;470	ENSP00000382796:R499H;ENSP00000330572:R764H;ENSP00000404914:R487H;ENSP00000340015:R385H;ENSP00000382792:R499H;ENSP00000008876:R470H	ENSP00000008876:R470H	R	+	2	0	MAPK8IP2	49392276	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.743000	0.55104	2.276000	0.75962	0.462000	0.41574	CGC		0.612	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		5	296	0	0	0	1	0	5	296				
DACH2	117154	broad.mit.edu	37	X	85950147	85950147	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chrX:85950147T>C	ENST00000373125.4	+	5	896	c.896T>C	c.(895-897)cTc>cCc	p.L299P	DACH2_ENST00000373131.1_Missense_Mutation_p.L286P|DACH2_ENST00000510272.1_Missense_Mutation_p.L80P|DACH2_ENST00000508860.1_Missense_Mutation_p.L132P	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	299					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCTCCAACCCTCAATCCACTG	0.483																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(856-858)cTc>cCc		dachshund homolog 2 (Drosophila)							62.0	46.0	51.0					X																	85950147		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85950147T>C	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.896T>C	X.37:g.85950147T>C	ENSP00000362217:p.Leu299Pro					DACH2_ENST00000508860.1_Missense_Mutation_p.L132P|DACH2_ENST00000373125.4_Missense_Mutation_p.L299P|DACH2_ENST00000510272.1_Missense_Mutation_p.L80P	p.L286P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			4	1020	+			299					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.857T>C	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	t	11.32	1.604904	0.28623	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.91521	-2.83;-2.86	4.99	3.83	0.44106	.	0.101850	0.42682	N	0.000662	D	0.92580	0.7643	L	0.53249	1.67	0.80722	D	1	D;P;P	0.89917	1.0;0.909;0.482	D;B;B	0.71184	0.972;0.331;0.078	D	0.90892	0.4762	10	0.51188	T	0.08	.	9.5587	0.39355	0.0:0.084:0.0:0.9159	.	165;286;299	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	P	299;286;299;132;80;132	ENSP00000362223:L286P;ENSP00000362217:L299P	ENSP00000345134:L299P	L	+	2	0	DACH2	85836803	1.000000	0.71417	0.926000	0.36857	0.625000	0.37756	5.315000	0.65810	0.591000	0.29711	0.414000	0.27820	CTC		0.483	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	64	0	0	0	1	0	3	64				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	375	0	0	0	1	0	7	375				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	171	0	0	0	1	0	4	171				
MUC5B	727897	broad.mit.edu	37	11	1268340	1268340	+	Silent	SNP	A	A	T	rs368194612		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3413P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148.0	179.0	169.0					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	32	0	0	0	1	0	4	32				
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	78					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(619-621)gCc>gTc		dual specificity phosphatase 13							205.0	181.0	189.0					10																	76855494		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855494G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.233C>T	10.37:g.76855494G>A	ENSP00000444580:p.Ala78Val					DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V	p.A207V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1162	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		70					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.620C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		0.577	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			10	596	0	0	0	1	0	10	596				
SLC7A9	11136	broad.mit.edu	37	19	33355167	33355167	+	Missense_Mutation	SNP	C	C	A	rs121908480	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:33355167C>A	ENST00000023064.4	-	4	504	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G105W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G105W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	105			G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity; dbSNP:rs121908480). {ECO:0000269|PubMed:10471498, ECO:0000269|PubMed:11157794, ECO:0000269|PubMed:12234283}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.G105W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGATGGGCCCGTAGGCCTCC	0.592																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			1	Substitution - Missense(1)	p.G105W(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM992218	SLC7A9	M	rs121908480	c.(313-315)Ggg>Tgg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						102.0	83.0	89.0					19																	33355167		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355167C>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.313G>T	19.37:g.33355167C>A	ENSP00000023064:p.Gly105Trp					SLC7A9_ENST00000587772.1_Missense_Mutation_p.G105W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G105W	p.G105W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			4	504	-	Esophageal squamous(110;0.137)		105		G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.313G>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047950	0.75846	.	.	ENSG00000021488	ENST00000023064	D	0.91407	-2.84	5.08	4.04	0.47022	Amino acid permease domain (1);	0.089561	0.85682	D	0.000000	D	0.96442	0.8839	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97595	1.0119	10	0.87932	D	0	.	15.912	0.79479	0.0:0.8643:0.1357:0.0	.	105	P82251	BAT1_HUMAN	W	105	ENSP00000023064:G105W	ENSP00000023064:G105W	G	-	1	0	SLC7A9	38047007	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	6.053000	0.71089	1.260000	0.44134	0.462000	0.41574	GGG		0.592	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			4	156	1	0	1	1	1	4	156				
DNM1P47	100216544	broad.mit.edu	37	15	102292989	102292989	+	RNA	SNP	C	C	A	rs368873911		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr15:102292989C>A	ENST00000561463.1	+	0	1035									DNM1 pseudogene 47																		TGCTGTCCAACCTGCACTCGC	0.582																																						ENST00000561463.1																			0																																																			0							g.chr15:102292989C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292989C>A														0	1035	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	74	1	0	5.18039e-06	1	5.89493e-06	5	74				
BSN	8927	broad.mit.edu	37	3	49701953	49701953	+	Silent	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:49701953C>T	ENST00000296452.4	+	9	11820	c.11706C>T	c.(11704-11706)ggC>ggT	p.G3902G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3902					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCTCCCTGGCGGGGCAGCCG	0.642																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11704-11706)ggC>ggT		bassoon presynaptic cytomatrix protein							50.0	56.0	54.0					3																	49701953		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49701953C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11706C>T	3.37:g.49701953C>T							p.G3902G	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	9	11820	+			3902					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.11706C>T	CCDS2800.1																																																																																				0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	265	0	0	0	1	0	5	265				
APEH	327	broad.mit.edu	37	3	49723603	49723603	+	IGR	SNP	G	G	A	rs199969873	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	94	0	0	0	1	0	5	94				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	493	0	0	0	1	0	6	493				
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:90139477G>A	ENST00000492446.1	+	0	275									immunoglobulin kappa variable 1D-16																		GTCCCATCAAGGTTCAGCGGC	0.483																																						ENST00000492446.1																			0																				95.0	98.0	97.0					2																	90139477		1847	4084	5931			0							g.chr2:90139477G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139477G>A														0	275	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.483	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		7	586	0	0	0	1	0	7	586				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	190	0	0	0	1	0	4	190				
RTTN	25914	broad.mit.edu	37	18	67794755	67794755	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr18:67794755C>A	ENST00000255674.6	-	25	3652	c.3366G>T	c.(3364-3366)tgG>tgT	p.W1122C	RTTN_ENST00000437017.1_Missense_Mutation_p.W1122C|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1122					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTGCGGTGTGCCAAGCCAAGG	0.463																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3364-3366)tgG>tgT		rotatin							63.0	59.0	60.0					18																	67794755		1977	4143	6120	SO:0001583	missense	25914						binding	g.chr18:67794755C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3366G>T	18.37:g.67794755C>A	ENSP00000255674:p.Trp1122Cys					RTTN_ENST00000437017.1_Missense_Mutation_p.W1122C|RTTN_ENST00000454359.1_3'UTR	p.W1122C	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			25	3652	-		Esophageal squamous(42;0.129)	1122					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.3366G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840728	0.71488	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.23950	1.88;1.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55717	-0.8097	10	0.87932	D	0	.	19.3103	0.94184	0.0:1.0:0.0:0.0	.	1122	Q86VV8	RTTN_HUMAN	C	1122	ENSP00000255674:W1122C;ENSP00000399520:W1122C	ENSP00000255674:W1122C	W	-	3	0	RTTN	65945735	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.414000	0.59802	2.558000	0.86282	0.650000	0.86243	TGG		0.463	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		4	168	1	0	0.00024832	1	0.000264341	4	168				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	132	0	0	0	1	0	5	132				
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388																																						ENST00000581050.1																			0																																																			0							g.chr16:70253871A>G																													16.37:g.70253871A>G								NR_033959.1						0	1619	-									RNA	SNP	ENST00000581050.1	37																																																																																						0.388	RP11-296I10.6-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441629.1			3	73	0	0	0	1	0	3	73				
TNIK	23043	broad.mit.edu	37	3	170884937	170884937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:170884937C>T	ENST00000436636.2	-	10	1240	c.896G>A	c.(895-897)cGc>cAc	p.R299H	TNIK_ENST00000538048.1_Missense_Mutation_p.R299H|TNIK_ENST00000488470.1_Missense_Mutation_p.R299H|TNIK_ENST00000357327.5_Missense_Mutation_p.R299H|TNIK_ENST00000470834.1_Missense_Mutation_p.R299H|TNIK_ENST00000460047.1_Missense_Mutation_p.R299H|TNIK_ENST00000475336.1_Missense_Mutation_p.R299H|TNIK_ENST00000369326.5_Missense_Mutation_p.R299H|TNIK_ENST00000341852.6_Missense_Mutation_p.R299H|TNIK_ENST00000284483.8_Missense_Mutation_p.R299H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	299	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTGAATGCGGACCTGTCG	0.428																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(895-897)cGc>cAc		TRAF2 and NCK interacting kinase							185.0	164.0	171.0					3																	170884937		1913	4120	6033	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170884937C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.896G>A	3.37:g.170884937C>T	ENSP00000399511:p.Arg299His					TNIK_ENST00000470834.1_Missense_Mutation_p.R299H|TNIK_ENST00000538048.1_Missense_Mutation_p.R299H|TNIK_ENST00000341852.6_Missense_Mutation_p.R299H|TNIK_ENST00000369326.5_Missense_Mutation_p.R299H|TNIK_ENST00000475336.1_Missense_Mutation_p.R299H|TNIK_ENST00000488470.1_Missense_Mutation_p.R299H|TNIK_ENST00000357327.5_Missense_Mutation_p.R299H|TNIK_ENST00000284483.8_Missense_Mutation_p.R299H|TNIK_ENST00000460047.1_Missense_Mutation_p.R299H	p.R299H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1240	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		299			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.896G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413727	0.96072	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	D;D;D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.80183	2.485	0.80722	D	1	P;D;D;D;D;D;D;D	0.89917	0.66;0.999;0.995;1.0;0.999;0.999;0.995;0.997	B;D;P;D;D;D;P;D	0.81914	0.236;0.981;0.873;0.995;0.981;0.981;0.873;0.958	D	0.93323	0.6694	10	0.72032	D	0.01	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	299;299;299;299;299;299;299;299	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	299;299;299;299;299;299;299;299;299;299;273	ENSP00000399511:R299H;ENSP00000358332:R299H;ENSP00000443278:R299H;ENSP00000345352:R299H;ENSP00000284483:R299H;ENSP00000418156:R299H;ENSP00000349880:R299H;ENSP00000418916:R299H;ENSP00000418378:R299H;ENSP00000419990:R299H;ENSP00000417338:R273H	ENSP00000284483:R299H	R	-	2	0	TNIK	172367631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.644000	0.89710	0.655000	0.94253	CGC		0.428	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	153	0	0	0	1	0	4	153				
WNT9B	7484	broad.mit.edu	37	17	44950050	44950050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:44950050C>T	ENST00000290015.2	+	2	298	c.245C>T	c.(244-246)gCg>gTg	p.A82V	WNT9B_ENST00000393461.2_Missense_Mutation_p.A82V	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	82					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGGATGCTGCGCACCTCGGC	0.662																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(244-246)gCg>gTg		wingless-type MMTV integration site family, member 9B							27.0	31.0	29.0					17																	44950050		2201	4300	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950050C>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.245C>T	17.37:g.44950050C>T	ENSP00000290015:p.Ala82Val					WNT9B_ENST00000290015.2_Missense_Mutation_p.A82V	p.A82V			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	298	+			82					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.245C>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680487	0.14907	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.76709	-1.04;-1.04	4.48	3.51	0.40186	.	0.183329	0.46442	D	0.000282	T	0.54447	0.1859	N	0.13299	0.325	0.32007	N	0.602586	B;B	0.18610	0.029;0.004	B;B	0.18871	0.023;0.011	T	0.50566	-0.8813	9	.	.	.	.	4.1265	0.10129	0.0:0.6832:0.0:0.3168	.	82;82	E7EPC3;O14905	.;WNT9B_HUMAN	V	82	ENSP00000377105:A82V;ENSP00000290015:A82V	.	A	+	2	0	WNT9B	42305049	0.998000	0.40836	0.178000	0.23040	0.590000	0.36582	3.492000	0.53259	2.488000	0.83962	0.455000	0.32223	GCG		0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		4	136	0	0	0	1	0	4	136				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	75	0	0	0	1	0	7	75				
PABPC4	8761	broad.mit.edu	37	1	40028015	40028016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:40028015_40028016insG	ENST00000372857.3	-	13	2485_2486	c.1693_1694insC	c.(1693-1695)cagfs	p.Q565fs	PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.Q552fs|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.Q536fs|PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.Q581fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCTGTTCCTGGGGGGGTGCT	0.604																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1693-1695)ggafs		poly(A) binding protein, cytoplasmic 4 (inducible form)			,,	14,4250		0,14,2118					,,	5.4	1.0			53	20,8234		0,20,4107	no	frameshift,frameshift,frameshift	PABPC4	NM_003819.3,NM_001135654.1,NM_001135653.1	,,	0,34,6225	A1A1,A1R,RR		0.2423,0.3283,0.2716	,,	,,		34,12484				SO:0001589	frameshift_variant	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40028015_40028016insG	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1694dupC	1.37:g.40028022_40028022dupG	ENSP00000361948:p.Gln565fs					PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.G581fs|PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.G536fs|PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.G552fs	p.G565fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		13	2485_2486	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	565			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Frame_Shift_Ins	INS	ENST00000372857.3	37	c.1693_1694insC	CCDS438.1																																																																																				0.604	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		7	310						7	310	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	259						7	259	---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89732166	89732166	+	Frame_Shift_Del	DEL	T	T	-	rs34148688		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:89732166delT	ENST00000370459.3	-	6	858	c.731delA	c.(730-732)aagfs	p.K244fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Del_p.K244fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	244	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGGCAAGCTTTTTTTGGTG	0.388																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(730-732)agfs		guanylate binding protein 5							182.0	179.0	180.0					1																	89732166		2203	4300	6503	SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732166delT	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.731delA	1.37:g.89732166delT	ENSP00000359488:p.Lys244fs					GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|RP4-620F22.2_ENST00000437128.1_RNA	p.K244fs	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	7	1267	-			244					B2RCE1|Q86TM5	Frame_Shift_Del	DEL	ENST00000370459.3	37	c.731delA	CCDS722.1																																																																																				0.388	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		8	576						8	576	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			9	120						9	120	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		7	447						7	447	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	9	260						9	260	---	---	---	---
RP11-400N13.1	0	broad.mit.edu	37	1	222376802	222376802	+	lincRNA	DEL	T	T	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:222376802delT	ENST00000416510.1	-	0	278																											TTCCTCCAGGTTATATCATGC	0.433																																						ENST00000416510.1																			0																																																			0							g.chr1:222376802delT																													1.37:g.222376802delT														0	278	-									RNA	DEL	ENST00000416510.1	37																																																																																						0.433	RP11-400N13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000090767.1			2	4						2	4	---	---	---	---
LINC01115	339822	broad.mit.edu	37	2	859471	859472	+	lincRNA	DEL	CA	CA	-	rs147528865|rs369156928	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:859471_859472delCA	ENST00000414556.1	-	0	309					NR_033880.1																						ACCCCCCCCCCAGCCCCCACTG	0.663														442	0.0882588	0.0371	0.1167	5008	,	,		6678	0.0466		0.1312	False		,,,				2504	0.136					ENST00000414556.1																			0																																																			0							g.chr2:859471_859472delCA																													2.37:g.859471_859472delCA								NR_033880.1						0	309	-									RNA	DEL	ENST00000414556.1	37																																																																																						0.663	AC113607.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000322403.1			4	5						4	5	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	609						7	609	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			10	272						10	272	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174829202	174829204	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:174829202_174829204delGCC	ENST00000310015.6	-	2	615_617	c.85_87delGGC	c.(85-87)ggcdel	p.G29del	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_In_Frame_Del_p.G17del|SP3_ENST00000418194.2_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	29	Poly-Gly.				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTcgccgtggccgccgccgccg	0.719																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(85-87)del		Sp3 transcription factor			,	4,1256		1,2,627					,	2.5	1.0			2	18,3042		6,6,1518	no	coding,coding	SP3	NM_003111.4,NM_001172712.1	,	7,8,2145	A1A1,A1R,RR		0.5882,0.3175,0.5093	,	,		22,4298				SO:0001651	inframe_deletion	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174829202_174829204delGCC	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.85_87delGGC	2.37:g.174829211_174829213delGCC	ENSP00000310301:p.Gly29del					SP3_ENST00000455789.2_In_Frame_Del_p.G17del	p.G29del	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		2	615_617	-			29			Poly-Gly.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	In_Frame_Del	DEL	ENST00000310015.6	37	c.85_87delGGC	CCDS2254.1																																																																																				0.719	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		2	4						2	4	---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					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)			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						TTCTTCTGAAGTTTTTTTTTCC	0.337																																						ENST00000263956.3																			0				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.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	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.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			8	271						8	271	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		10	457						10	457	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	217874	217874	+	RNA	DEL	G	G	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:217874delG	ENST00000356347.3	+	0	172				AC079140.1_ENST00000516807.1_RNA	NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ggctgcttcagggagcacagc	0.537																																						ENST00000356347.3																			0																																																			0							g.chr4:217874delG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.217874delG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.537	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		7	135						7	135	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:38691476delC	ENST00000261438.5	+	4	976	c.671delC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)tcfs		Kruppel-like factor 3 (basic)							137.0	129.0	132.0					4																	38691476		2203	4300	6503	SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691476delC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.671delC	4.37:g.38691476delC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	ENST00000261438.5	37	c.671delC	CCDS3444.1																																																																																				0.423	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			8	713						8	713	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		8	259						8	259	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TTGGGGAAAGACTTTATCCAGG	0.436																																						ENST00000411500.1																			0																																																			0							g.chr6:32521545_32521546insAAGG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521545_32521546insAAGG								NR_001298.1						0	851	-									RNA	INS	ENST00000411500.1	37																																																																																						0.436	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		8	6						8	6	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73771745	73771746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:73771745_73771746insC	ENST00000395060.1	+	5	1153_1154	c.1153_1154insC	c.(1153-1155)gccfs	p.A385fs	CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.A385fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.A385fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	385						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGTGGCCAAGGCCACAAGCCAC	0.629																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1153-1155)cacfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73771745_73771746insC	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1155dupC	7.37:g.73771747_73771747dupC	ENSP00000378500:p.Ala385fs					CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.H385fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.H385fs	p.H385fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			6	1480_1481	+			385					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.1153_1154insC	CCDS5569.1																																																																																				0.629	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	95						7	95	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:107395909delA	ENST00000440859.3	+	5	880	c.413delA	c.(412-414)gaafs	p.E138fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	138					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ATTTTACATGAAAAAAAGGGA	0.269																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(412-414)gafs		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							114.0	119.0	117.0					7																	107395909		2203	4298	6501	SO:0001589	frameshift_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395909delA	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.413delA	7.37:g.107395909delA	ENSP00000401277:p.Glu138fs					CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	p.E138fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			5	880	+			138					B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	37	c.413delA	CCDS5747.1																																																																																				0.269	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		7	862						7	862	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	4	6						4	6	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs539338573|rs34562444	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23														1083	0.216254	0.1286	0.2435	5008	,	,		17643	0.1319		0.3718	False		,,,				2504	0.2423					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405323_89405326delTTTA	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405327_89405330delTTTA										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.230	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	22						10	22	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39713783	39713784	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr12:39713783_39713784insT	ENST00000361418.5	-	28	3718_3719	c.3703_3704insA	c.(3703-3705)attfs	p.I1235fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.I1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.I1222fs|KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.I1235fs|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.I1215fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1235					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGGCTCTGGAATTTTTTTTTCT	0.342																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3703-3705)tccfs		kinesin family member 21A																																				SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713783_39713784insT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3704dupA	12.37:g.39713792_39713792dupT	ENSP00000354878:p.Ile1235fs					KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs	p.S1235fs			Q7Z4S6	KI21A_HUMAN			27	4122_4123	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1235					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	ENST00000361418.5	37	c.3703_3704insA	CCDS53776.1																																																																																				0.342	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		7	548						7	548	---	---	---	---
EBPL	84650	broad.mit.edu	37	13	50235208	50235209	+	Frame_Shift_Ins	INS	-	-	A	rs369293935		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr13:50235208_50235209insA	ENST00000242827.6	-	4	566_567	c.516_517insT	c.(514-519)tttaacfs	p.N173fs	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	173					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACACACCGTTAAAAAAAAACA	0.48																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			1	Deletion - Frameshift(1)	p.F172fs*7(1)	ovary(1)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-519)ttacggfs		emopamil binding protein-like																																				SO:0001589	frameshift_variant	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235208_50235209insA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.517dupT	13.37:g.50235217_50235217dupA	ENSP00000242827:p.Asn173fs					EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378284.2_3'UTR	p.LR172fs	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	566_567	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	172					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Frame_Shift_Ins	INS	ENST00000242827.6	37	c.516_517insT	CCDS9420.1																																																																																				0.480	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		7	239						7	239	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	492						9	492	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(895-897)del		telomeric repeat binding factor 2, interacting protein				1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690204_75690206delGAA	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del						p.E304del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	992_994	+			304			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.895_897delGAA	CCDS32491.1																																																																																				0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		13	300						13	300	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	752						7	752	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		9	442						9	442	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		11	123						11	123	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1102-1104)agfs		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						109.0	87.0	94.0					17																	40370236		2203	4300	6503	SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370236delG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1102delC	17.37:g.40370236delG	ENSP00000293328:p.Gln368fs						p.Q368fs	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1270	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	c.1102delC	CCDS11423.1																																																																																				0.577	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		7	190						7	190	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856336	62856336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:62856336delT	ENST00000584306.1	-	11	4458	c.3928delA	c.(3928-3930)actfs	p.T1310fs	LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.T428fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.T1310fs|LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.T287fs|LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.T348fs	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1310						integral component of membrane (GO:0016021)		p.T1310S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CGGGAGCGAGTTTTGTGAAAG	0.418																																						ENST00000584306.1																			1	Substitution - Missense(1)	p.T1310S(1)	NS(1)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3928-3930)ctfs		leucine rich repeat containing 37, member A3							228.0	236.0	233.0					17																	62856336		2203	4300	6503	SO:0001589	frameshift_variant	374819					integral to membrane		g.chr17:62856336delT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3928delA	17.37:g.62856336delT	ENSP00000464535:p.Thr1310fs					LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.T348fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.T1310fs|LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.T287fs|LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.T428fs	p.T1310fs	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4458	-			1310					Q49A01|Q49A80|Q8NB33	Frame_Shift_Del	DEL	ENST00000584306.1	37	c.3928delA	CCDS32708.1																																																																																				0.418	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		9	1221						9	1221	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35231932	35231932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:35231932delG	ENST00000492450.1	+	4	735	c.646delG	c.(646-648)gggfs	p.G216fs	ZNF181_ENST00000459757.2_Frame_Shift_Del_p.G215fs|ZNF181_ENST00000392232.3_Frame_Shift_Del_p.G260fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAATAAAAGTGGGGCAGCCTT	0.358																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(778-780)ggfs		zinc finger protein 181							84.0	95.0	91.0					19																	35231932		2201	4299	6500	SO:0001589	frameshift_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231932delG	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.646delG	19.37:g.35231932delG	ENSP00000420727:p.Gly216fs					ZNF181_ENST00000492450.1_Frame_Shift_Del_p.G216fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.G215fs	p.G260fs			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	946	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					B7ZKX3|Q49A75	Frame_Shift_Del	DEL	ENST00000492450.1	37	c.778delG	CCDS32990.2																																																																																				0.358	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	619						7	619	---	---	---	---
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057					ENST00000291691.7																			3	Insertion - In frame(3)	p.H299_A300insH(3)	breast(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9						c.(895-897)cgc>cCCAgc		chromosome 21 open reading frame 58																																				SO:0001652	inframe_insertion	54058							g.chr21:47721985_47721986insTGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup					C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193R>PS	p.299_299R>PS	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN		Colorectal(79;0.239)	8	2032_2033	-	Breast(49;0.112)		299			Poly-His.		B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	c.896_897insCCA	CCDS13735.1																																																																																				0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		6	6						6	6	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	367						8	367	---	---	---	---
PRPS2	5634	broad.mit.edu	37	X	12827359	12827360	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chrX:12827359_12827360insC	ENST00000380668.5	+	3	441_442	c.313_314insC	c.(313-315)gccfs	p.A105fs	PRPS2_ENST00000489404.1_Frame_Shift_Ins_p.A105fs|PRPS2_ENST00000398491.2_Frame_Shift_Ins_p.A108fs	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	105					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GTAGAGTCGTGCCCCAATTTCT	0.436																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(313-315)cccfs		phosphoribosyl pyrophosphate synthetase 2																																				SO:0001589	frameshift_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12827359_12827360insC	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.317dupC	X.37:g.12827363_12827363dupC	ENSP00000370043:p.Ala105fs					PRPS2_ENST00000489404.1_Frame_Shift_Ins_p.P105fs|PRPS2_ENST00000398491.2_Frame_Shift_Ins_p.P108fs	p.P105fs	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			3	441_442	+			105					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Frame_Shift_Ins	INS	ENST00000380668.5	37	c.313_314insC	CCDS14150.1																																																																																				0.436	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		7	284						7	284	---	---	---	---
