#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
NFKB1	4790	broad.mit.edu	37	4	103517377	103517377	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:103517377A>G	ENST00000505458.1	+	14	1657	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	NFKB1_ENST00000394820.4_Silent_p.K460K|NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000226574.4_Silent_p.K461K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	460	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTTTGGGAAAGTTATTGAAA	0.433																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1381-1383)aaA>aaG		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						73.0	75.0	75.0					4																	103517377		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103517377A>G	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1380A>G	4.37:g.103517377A>G						NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000505458.1_Silent_p.K460K|NFKB1_ENST00000394820.4_Silent_p.K460K	p.K461K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	1850	+		Hepatocellular(203;0.217)	460			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.1383A>G	CCDS54783.1																																																																																				0.433	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			59	225	0	0	0	1	0	59	225				
ZNF112	7771	broad.mit.edu	37	19	44833545	44833545	+	Silent	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:44833545A>C	ENST00000337401.4	-	5	871	c.783T>G	c.(781-783)acT>acG	p.T261T	ZNF112_ENST00000354340.4_Silent_p.T255T|ZNF112_ENST00000536500.1_Silent_p.T278T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	261				T -> S (in Ref. 1; AAF12816). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTATACCCAGTACATGGAT	0.433																																						ENST00000354340.4																			0											c.(763-765)acT>acG		zinc finger protein 112							106.0	105.0	105.0					19																	44833545		2203	4300	6503	SO:0001819	synonymous_variant	7665							g.chr19:44833545A>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.783T>G	19.37:g.44833545A>C						ZNF112_ENST00000536500.1_Silent_p.T278T|ZNF112_ENST00000337401.4_Silent_p.T261T	p.T255T	NM_013380.3	NP_037512.3					4	816	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.765T>G	CCDS54276.1																																																																																				0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		116	364	0	0	0	1	0	116	364				
DENND4C	55667	broad.mit.edu	37	9	19305370	19305370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:19305370G>A	ENST00000380432.2	+	6	657	c.624G>A	c.(622-624)tgG>tgA	p.W208*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	208	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCAGTGGCAATGCCCAT	0.328																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(622-624)tgG>tgA		DENN/MADD domain containing 4C							167.0	163.0	164.0					9																	19305370		2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19305370G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.624G>A	9.37:g.19305370G>A	ENSP00000369797:p.Trp208*					DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000307015.9_5'UTR	p.W208*	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			6	657	+			208			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.624G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.966709	0.97156	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5753	17.8373	0.88701	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000369802:W208X	W	+	3	0	DENND4C	19295370	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	TGG		0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	406	0	0	0	1	0	5	406				
MUC3A	4584	broad.mit.edu	37	7	100607857	100607857	+	Silent	SNP	C	C	T	rs375190082	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:100607857C>T	ENST00000319509.7	+	5	2004	c.2004C>T	c.(2002-2004)aaC>aaT	p.N668N	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2333	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCTCCAGAACGCCAGCCAGG	0.657													C|||	3	0.000599042	0.0023	0.0	5008	,	,		30221	0.0		0.0	False		,,,				2504	0.0					ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2002-2004)aaC>aaT		mucin 3A, cell surface associated		C		6,1746		0,6,870	57.0	53.0	54.0		3834	-3.2	0.1	7		54	0,3982		0,0,1991	no	coding-synonymous	MUC3A	XM_001725354.4		0,6,2861	TT,TC,CC		0.0,0.3425,0.1046		1278/1487	100607857	6,5728	876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100607857C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2004C>T	7.37:g.100607857C>T						RP11-395B7.2_ENST00000420080.1_RNA	p.N668N							5	2004	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.2004C>T																																																																																					0.657	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		21	113	0	0	0	1	0	21	113				
THSD7B	80731	broad.mit.edu	37	2	138163324	138163324	+	Missense_Mutation	SNP	C	C	T	rs200743398	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:138163324C>T	ENST00000409968.1	+	13	2820	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	881	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCAAGTTTACGCCCTGCTCC	0.502													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17720	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2641-2643)aCg>aTg		thrombospondin, type I, domain containing 7B		C	MET/THR	0,4074		0,0,2037	71.0	74.0	73.0		2549	5.6	1.0	2		73	3,8349		0,3,4173	yes	missense	THSD7B	NM_001080427.1	81	0,3,6210	TT,TC,CC		0.0359,0.0,0.0241	probably-damaging	850/1578	138163324	3,12423	2037	4176	6213	SO:0001583	missense	80731							g.chr2:138163324C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2642C>T	2.37:g.138163324C>T	ENSP00000387145:p.Thr881Met					THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000543459.1_Intron	p.T881M						BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2820	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2642C>T		.	.	.	.	.	.	.	.	.	.	C	17.45	3.393937	0.62066	0.0	3.59E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.59	5.59	0.84812	.	0.105674	0.64402	D	0.000003	T	0.77003	0.4067	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.77710	-0.2486	10	0.66056	D	0.02	.	19.5832	0.95478	0.0:1.0:0.0:0.0	.	881;850	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	881;881;850	ENSP00000387145:T881M;ENSP00000272643:T881M;ENSP00000413841:T850M	ENSP00000272643:T881M	T	+	2	0	THSD7B	137879794	0.999000	0.42202	0.966000	0.40874	0.381000	0.30169	4.450000	0.60041	2.633000	0.89246	0.591000	0.81541	ACG		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		25	76	0	0	0	1	0	25	76				
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(232-234)caG>caA		TATA box binding protein							13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871058G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A						TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	513	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	78			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.234G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	92	0	0	0	1	0	5	92				
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACCACACTATGTCGAAAAGT	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(640-642)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							127.0	114.0	119.0					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578208T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	773	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	72	0	0	0	1	0	52	72				
REXO4	57109	broad.mit.edu	37	9	136282883	136282883	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:136282883G>A	ENST00000371942.3	-	1	281	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(82-84)Cgg>Tgg		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							79.0	87.0	84.0					9																	136282883		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282883G>A	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.82C>T	9.37:g.136282883G>A	ENSP00000361010:p.Arg28Trp					ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|REXO4_ENST00000478037.1_5'UTR	p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	281	-			28					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.82C>T	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861056	0.32884	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000371935;ENST00000454825	T;T	0.21543	2.0;2.07	3.93	0.308	0.15815	.	1.450310	0.04735	N	0.421779	T	0.41880	0.1178	M	0.63843	1.955	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;P	0.72075	0.976;0.891	T	0.19289	-1.0310	10	0.66056	D	0.02	-8.8689	7.0347	0.24987	0.0:0.1441:0.4354:0.4205	.	28;28	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	W	13;28;28;28	ENSP00000403272:R13W;ENSP00000361010:R28W	ENSP00000361003:R28W	R	-	1	2	REXO4	135272704	0.199000	0.23386	0.048000	0.18961	0.689000	0.40095	0.243000	0.18106	-0.230000	0.09840	0.555000	0.69702	CGG		0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			7	695	0	0	0	1	0	7	695				
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687																																						ENST00000360127.6																			2	Substitution - coding silent(2)	p.G344G(2)	kidney(2)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1030-1032)ggC>ggT		chromosome 17 open reading frame 97							11.0	17.0	15.0					17																	263666		1810	3749	5559	SO:0001819	synonymous_variant	400566							g.chr17:263666C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1032C>T	17.37:g.263666C>T						C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.G344G	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1048	+			374			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.1032C>T	CCDS32519.2																																																																																				0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		10	224	0	0	0	1	0	10	224				
KRTAP1-5	83895	broad.mit.edu	37	17	39183129	39183129	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(277-279)acT>acC		keratin associated protein 1-5							24.0	28.0	26.0					17																	39183129		2076	4218	6294	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183129A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G							p.T93T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	325	-		Breast(137;0.00043)	93			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.279T>C	CCDS42321.1																																																																																				0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	141	0	0	0	1	0	4	141				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		6	121	0	0	0	1	0	6	121				
ZZEF1	23140	broad.mit.edu	37	17	3917724	3917724	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:3917724G>A	ENST00000381638.2	-	50	8355	c.8231C>T	c.(8230-8232)gCc>gTc	p.A2744V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2744							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGGACATGGCTAACTCGTC	0.483																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8230-8232)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							156.0	133.0	141.0					17																	3917724		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917724G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8231C>T	17.37:g.3917724G>A	ENSP00000371051:p.Ala2744Val						p.A2744V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			50	8355	-			2744					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8231C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425470	0.43020	.	.	ENSG00000074755	ENST00000381638	T	0.19938	2.11	5.17	5.17	0.71159	.	0.331247	0.33309	N	0.005051	T	0.09512	0.0234	N	0.08118	0	0.36216	D	0.851679	B	0.15473	0.013	B	0.14023	0.01	T	0.23297	-1.0192	10	0.26408	T	0.33	-9.8985	6.1894	0.20516	0.2147:0.0:0.7853:0.0	.	2744	O43149	ZZEF1_HUMAN	V	2744	ENSP00000371051:A2744V	ENSP00000371051:A2744V	A	-	2	0	ZZEF1	3864473	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	5.724000	0.68500	2.703000	0.92315	0.655000	0.94253	GCC		0.483	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	380	0	0	0	1	0	6	380				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261778	39261778	+	Silent	SNP	A	A	G	rs556157666	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(136-138)gtA>gtG		keratin associated protein 4-9							15.0	22.0	20.0					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261778A>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G							p.V46V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	195	+			46			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.138A>G	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		12	107	0	0	0	1	0	12	107				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	102	0	0	0	1	0	4	102				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	136	0	0	0	1	0	5	136				
FAM86HP	729375	broad.mit.edu	37	3	129821632	129821632	+	RNA	SNP	C	C	T	rs115468595	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:129821632C>T	ENST00000500074.2	-	0	513									family with sequence similarity 86, member H, pseudogene																		ACACCTGGCACGTCTCTGGGT	0.662													c|||	89	0.0177716	0.0091	0.0173	5008	,	,		15792	0.0069		0.0318	False		,,,				2504	0.0266					ENST00000500074.2																			0																																																			0							g.chr3:129821632C>T			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821632C>T														0	513	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.662	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			6	354	0	0	0	1	0	6	354				
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(550-552)cTa>cCa		heparan sulfate 6-O-sulfotransferase 1							27.0	28.0	28.0					2																	129026421		2038	4089	6127	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026421A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.551T>C	2.37:g.129026421A>G	ENSP00000259241:p.Leu184Pro						p.L184P	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	564	-	Colorectal(110;0.1)		184					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.551T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237048	0.79800	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90391	0.4395	9	.	.	.	.	14.4384	0.67298	1.0:0.0:0.0:0.0	.	184	O60243	H6ST1_HUMAN	P	184	ENSP00000259241:L184P	.	L	-	2	0	HS6ST1	128742891	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.936000	0.92931	1.813000	0.52934	0.379000	0.24179	CTA		0.622	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	161	0	0	0	1	0	5	161				
MLLT4	4301	broad.mit.edu	37	6	168315909	168315909	+	Silent	SNP	C	C	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:168315909C>A	ENST00000447894.2	+	18	2340	c.2340C>A	c.(2338-2340)gcC>gcA	p.A780A	MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000366806.2_Silent_p.A780A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000392112.1_Silent_p.A764A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	780	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGTCAATGCCGCCCTGACCA	0.537			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2338-2340)gcC>gcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							140.0	109.0	120.0					6																	168315909		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315909C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2340C>A	6.37:g.168315909C>A						MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000447894.2_Silent_p.A780A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000344191.4_Silent_p.A780A	p.A780A			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2482	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	780			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2340C>A																																																																																					0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	223	1	0	0.150653	1	0.150653	4	223				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	107	0	0	0	1	0	8	107				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.K151K(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(451-453)aaG>aaA		POTE ankyrin domain family, member C							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_ENST00000389891.4_5'UTR	p.K151K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	452	-			151						Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	584	0	0	0	1	0	9	584				
KIF5C	3800	broad.mit.edu	37	2	149854968	149854968	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:149854968T>A	ENST00000435030.1	+	19	2523	c.2155T>A	c.(2155-2157)Tcc>Acc	p.S719T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T			O60282	KIF5C_HUMAN	kinesin family member 5C	719					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGCAGCTGTCCAGACTCCG	0.572																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2155-2157)Tcc>Acc		kinesin family member 5C							22.0	26.0	25.0					2																	149854968		2073	4224	6297	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149854968T>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2155T>A	2.37:g.149854968T>A	ENSP00000393379:p.Ser719Thr					KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T|KIF5C_ENST00000464066.1_3'UTR	p.S719T			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	19	2523	+			719					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2155T>A		.	.	.	.	.	.	.	.	.	.	T	25.9	4.685940	0.88639	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.79845	-1.31;-1.31;-1.31	5.78	5.78	0.91487	.	0.126390	0.56097	D	0.000025	T	0.76147	0.3947	.	.	.	0.44918	D	0.997937	P	0.37233	0.588	B	0.38264	0.269	T	0.74478	-0.3652	8	.	.	.	.	16.1254	0.81392	0.0:0.0:0.0:1.0	.	719	O60282	KIF5C_HUMAN	T	719;624;622;487	ENSP00000393379:S719T;ENSP00000410115:S624T;ENSP00000380560:S487T	.	S	+	1	0	KIF5C	149563214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.204000	0.65180	2.195000	0.70347	0.528000	0.53228	TCC		0.572	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		5	22	0	0	0	1	0	5	22				
RYR2	6262	broad.mit.edu	37	1	237794804	237794804	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:237794804A>G	ENST00000366574.2	+	42	6835	c.6518A>G	c.(6517-6519)gAg>gGg	p.E2173G	RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTGTGATGGAGGTCATGGTG	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6517-6519)gAg>gGg		ryanodine receptor 2 (cardiac)							110.0	116.0	114.0					1																	237794804		2038	4227	6265	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794804A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6518A>G	1.37:g.237794804A>G	ENSP00000355533:p.Glu2173Gly					RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	p.E2173G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6835	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2173			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6518A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952183	0.92660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89485	-2.52;-2.52;-2.52	5.21	5.21	0.72293	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000005	D	0.92625	0.7657	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93114	0.6519	10	0.59425	D	0.04	-17.9264	15.3633	0.74499	1.0:0.0:0.0:0.0	.	2173	Q92736	RYR2_HUMAN	G	2173;2171;2157	ENSP00000355533:E2173G;ENSP00000353174:E2171G;ENSP00000443798:E2157G	ENSP00000353174:E2171G	E	+	2	0	RYR2	235861427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.528000	0.53228	GAG		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	149	0	0	0	1	0	4	149				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	437	0	0	0	1	0	6	437				
GTF3C1	2975	broad.mit.edu	37	16	27517278	27517278	+	Missense_Mutation	SNP	G	G	A	rs140459536		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:27517278G>A	ENST00000356183.4	-	10	1727	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	571					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTGCTGTCCGCACAGTGGGA	0.567																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1711-1713)gCg>gTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa		G	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	139.0	115.0	123.0		1712	2.8	0.0	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTF3C1	NM_001520.3	64	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	571/2110	27517278	2,12992	2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27517278G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1712C>T	16.37:g.27517278G>A	ENSP00000348510:p.Ala571Val					GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			10	1727	-			571					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1712C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	3.660	-0.069722	0.07228	2.28E-4	1.16E-4	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22539	1.95	5.39	2.83	0.33086	.	1.419090	0.03886	N	0.277842	T	0.09379	0.0231	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21075	-1.0256	10	0.28530	T	0.3	-4.6393	5.1223	0.14867	0.7147:0.0:0.2853:0.0	.	571;571	Q12789;Q12789-3	TF3C1_HUMAN;.	V	571;569	ENSP00000348510:A571V	ENSP00000348510:A571V	A	-	2	0	GTF3C1	27424779	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.574000	0.23714	0.984000	0.38629	-0.302000	0.09304	GCG		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	458	0	0	0	1	0	5	458				
TMED9	54732	broad.mit.edu	37	5	177022351	177022351	+	Silent	SNP	C	C	T	rs370667269		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(640-642)ctC>ctT		transmembrane emp24 protein transport domain containing 9							80.0	76.0	77.0					5																	177022351		2203	4300	6503	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177022351C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.642C>T	5.37:g.177022351C>T							p.L214L	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	699	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	214					Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.642C>T	CCDS4428.1																																																																																				0.592	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		92	360	0	0	0	1	0	92	360				
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89.0	81.0	84.0					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr					MRPS6_ENST00000399312.2_Intron	p.A402T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1716	+			402					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			5	210	0	0	0	1	0	5	210				
ATP8B3	148229	broad.mit.edu	37	19	1785511	1785511	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:1785511G>A	ENST00000310127.6	-	26	3588	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1127V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1117					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCACGACCGCAAAGGACTG	0.637																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3379-3381)gCg>gTg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							37.0	45.0	42.0					19																	1785511		2064	4182	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785511G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3350C>T	19.37:g.1785511G>A	ENSP00000311336:p.Ala1117Val					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1117V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	p.A1127V			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3613	-		Hepatocellular(1079;0.137)	1117					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3380C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777695	0.70107	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.41400	1.0;1.0;1.0	4.48	0.765	0.18470	.	0.470389	0.21414	N	0.074937	T	0.52964	0.1767	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53760	0.51;0.734	T	0.55042	-0.8202	10	0.87932	D	0	.	14.0541	0.64756	0.0:0.4546:0.5454:0.0	.	1117;1080	O60423;Q7Z485	AT8B3_HUMAN;.	V	1117;1127;1080	ENSP00000311336:A1117V;ENSP00000443574:A1127V;ENSP00000437115:A1080V	ENSP00000311336:A1117V	A	-	2	0	ATP8B3	1736511	0.992000	0.36948	0.000000	0.03702	0.063000	0.16089	6.399000	0.73248	-0.033000	0.13736	-0.175000	0.13238	GCG		0.637	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	133	0	0	0	1	0	4	133				
LUM	4060	broad.mit.edu	37	12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443																																						ENST00000266718.4																			1	Substitution - coding silent(1)	p.R170R(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(508-510)Cgg>Tgg		lumican							98.0	100.0	99.0					12																	91502249		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502249G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.508C>T	12.37:g.91502249G>A	ENSP00000266718:p.Arg170Trp					LUM_ENST00000548071.1_Intron	p.R170W	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	962	-			170					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.508C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841053	0.32513	.	.	ENSG00000139329	ENST00000266718	T	0.58652	0.32	5.6	5.6	0.85130	.	0.355674	0.30329	N	0.009863	T	0.64583	0.2611	L	0.49699	1.58	0.26729	N	0.970633	P	0.49090	0.919	P	0.53062	0.717	T	0.61831	-0.6982	10	0.59425	D	0.04	-14.9632	15.1305	0.72520	0.0:0.1408:0.8592:0.0	.	170	P51884	LUM_HUMAN	W	170	ENSP00000266718:R170W	ENSP00000266718:R170W	R	-	1	2	LUM	90026380	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	2.608000	0.46308	2.648000	0.89879	0.557000	0.71058	CGG		0.443	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		103	179	0	0	0	1	0	103	179				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	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	146	0	0	0	1	0	5	146				
ZRSR2	8233	broad.mit.edu	37	X	15827397	15827397	+	Silent	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:15827397T>C	ENST00000307771.7	+	7	537	c.513T>C	c.(511-513)aaT>aaC	p.N171N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	171					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCGAGCTAATTGTCCCTTCT	0.383			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(511-513)aaT>aaC		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							123.0	108.0	113.0					X																	15827397		2203	4298	6501	SO:0001819	synonymous_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827397T>C	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.513T>C	X.37:g.15827397T>C							p.N171N	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			7	537	+	Hepatocellular(33;0.183)		171					Q14D69	Silent	SNP	ENST00000307771.7	37	c.513T>C	CCDS14172.1																																																																																				0.383	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		4	214	0	0	0	1	0	4	214				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		80	145	0	0	0	1	0	80	145				
ARHGAP24	83478	broad.mit.edu	37	4	86898803	86898803	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:86898803T>C	ENST00000395184.1	+	8	1353	c.887T>C	c.(886-888)aTc>aCc	p.I296T	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	296	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGTCCTAATATCCTGCGCCCC	0.398																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(886-888)aTc>aCc		Rho GTPase activating protein 24							126.0	111.0	116.0					4																	86898803		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86898803T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.887T>C	4.37:g.86898803T>C	ENSP00000378611:p.Ile296Thr					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	p.I296T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	8	1353	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	296			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.887T>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852845	0.91355	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.95	5.95	0.96441	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.986;0.999	D	0.85343	0.1097	10	0.87932	D	0	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	201;203;296	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	T	296;201;211;203	ENSP00000378611:I296T;ENSP00000378610:I201T;ENSP00000425589:I211T;ENSP00000264343:I203T	ENSP00000264343:I203T	I	+	2	0	ARHGAP24	87117827	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATC		0.398	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		56	209	0	0	0	1	0	56	209				
KIAA1841	84542	broad.mit.edu	37	2	61304193	61304193	+	Silent	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:61304193G>T	ENST00000402291.1	+	6	811	c.570G>T	c.(568-570)gtG>gtT	p.V190V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	190										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGAAGAGGTGGACATTTCAG	0.378																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(568-570)gtG>gtT		KIAA1841							106.0	109.0	108.0					2																	61304193		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61304193G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.570G>T	2.37:g.61304193G>T						KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V	p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	811	+			190					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.570G>T	CCDS46296.1																																																																																				0.378	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		23	651	1	0	1.77063e-15	1	1.91228e-15	23	651				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	270	0	0	0	1	0	6	270				
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:62295522C>T	ENST00000378024.4	-	5	6641	c.6367G>A	c.(6367-6369)Gac>Aac	p.D2123N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2123					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6367-6369)Gac>Aac		AHNAK nucleoprotein							193.0	207.0	202.0					11																	62295522		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295522C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6367G>A	11.37:g.62295522C>T	ENSP00000367263:p.Asp2123Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D2123N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6641	-		Melanoma(852;0.155)	2123					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6367G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	4.001	-0.002512	0.07819	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02085	4.46	3.51	1.57	0.23409	.	.	.	.	.	T	0.05593	0.0147	M	0.89478	3.035	0.19300	N	0.999978	B	0.13145	0.007	B	0.13407	0.009	T	0.15867	-1.0422	9	0.51188	T	0.08	.	8.8801	0.35370	0.0:0.8095:0.0:0.1905	.	2123	Q09666	AHNK_HUMAN	N	212;2123	ENSP00000367263:D2123N	ENSP00000244934:D212N	D	-	1	0	AHNAK	62052098	0.581000	0.26741	0.001000	0.08648	0.182000	0.23217	2.365000	0.44196	0.124000	0.18369	0.298000	0.19748	GAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	1122	0	0	0	1	0	8	1122				
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:11098910G>A	ENST00000470054.1	-	0	15							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098910G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098910G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	15	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	43	0	0	0	1	0	3	43				
PRX	57716	broad.mit.edu	37	19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587																																						ENST00000324001.7																			1	Deletion - In frame(1)	p.E545_P549delEVQLP(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1639-1641)Cag>Gag		periaxin							80.0	92.0	88.0					19																	40902620		2201	4297	6498	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902620G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1639C>G	19.37:g.40902620G>C	ENSP00000326018:p.Gln547Glu					PRX_ENST00000291825.7_3'UTR	p.Q547E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1909	-			547			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1639C>G	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375097	0.05034	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01821	4.62	4.14	3.07	0.35406	.	.	.	.	.	T	0.02342	0.0072	M	0.68317	2.08	0.09310	N	0.999999	B	0.14438	0.01	B	0.15484	0.013	T	0.48969	-0.8987	9	0.10111	T	0.7	-17.7457	6.247	0.20825	0.1018:0.3702:0.5279:0.0	.	547	Q9BXM0	PRAX_HUMAN	E	547	ENSP00000326018:Q547E	ENSP00000326018:Q547E	Q	-	1	0	PRX	45594460	0.000000	0.05858	0.759000	0.31340	0.312000	0.27988	0.006000	0.13152	0.905000	0.36596	0.591000	0.81541	CAG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	790	0	0	0	1	0	6	790				
PIGO	84720	broad.mit.edu	37	9	35090660	35090660	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35090660G>A	ENST00000378617.3	-	8	3051	c.2657C>T	c.(2656-2658)aCt>aTt	p.T886I	PIGO_ENST00000361778.2_Missense_Mutation_p.T469I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000341666.3_Missense_Mutation_p.T886I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	886				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATGGCACAGTAAAAGGACC	0.502																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2656-2658)aCt>aTt		phosphatidylinositol glycan anchor biosynthesis, class O							54.0	53.0	54.0					9																	35090660		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090660G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2657C>T	9.37:g.35090660G>A	ENSP00000367880:p.Thr886Ile					PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I	p.T886I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3051	-			886	PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2657C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931790	0.34096	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.5;0.49;0.49;0.5	5.18	4.29	0.51040	.	0.358601	0.29205	N	0.012826	T	0.34337	0.0894	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.16802	0.019;0.005	B;B	0.17433	0.018;0.005	T	0.14559	-1.0468	10	0.22109	T	0.4	-16.9499	12.8394	0.57793	0.078:0.0:0.922:0.0	.	469;886	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	469;886;886;469	ENSP00000298004:T469I;ENSP00000367880:T886I;ENSP00000339382:T886I;ENSP00000354678:T469I	ENSP00000298004:T469I	T	-	2	0	PIGO	35080660	0.683000	0.27633	1.000000	0.80357	0.995000	0.86356	0.434000	0.21494	1.424000	0.47217	0.655000	0.94253	ACT		0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		8	808	0	0	0	1	0	8	808				
CRNN	49860	broad.mit.edu	37	1	152382520	152382520	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1036-1038)caC>caT		cornulin							234.0	198.0	210.0					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	696	0	0	0	1	0	7	696				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			9	128	1	0	6.72482e-11	1	7.20517e-11	9	128				
FAM91A1	157769	broad.mit.edu	37	8	124787436	124787436	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787436G>C	ENST00000334705.7	+	3	453	c.207G>C	c.(205-207)aaG>aaC	p.K69N	FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	69										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACTGCTAAAGTACAGCCGAG	0.373																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(205-207)aaG>aaC		family with sequence similarity 91, member A1							103.0	93.0	96.0					8																	124787436		1906	4122	6028	SO:0001583	missense	157769							g.chr8:124787436G>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.207G>C	8.37:g.124787436G>C	ENSP00000335082:p.Lys69Asn					FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	p.K69N	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	453	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		69					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.207G>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232109	0.22626	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	T;T	0.45276	0.9;1.48	5.33	0.886	0.19194	.	0.000000	0.85682	U	0.000000	T	0.40347	0.1113	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.54964	0.969;0.969	P;P	0.55824	0.785;0.785	T	0.10451	-1.0629	10	0.38643	T	0.18	.	8.227	0.31575	0.5698:0.0:0.4302:0.0	.	69;69	E7ER68;Q658Y4	.;F91A1_HUMAN	N	69	ENSP00000429491:K69N;ENSP00000335082:K69N	ENSP00000335082:K69N	K	+	3	2	FAM91A1	124856617	1.000000	0.71417	0.906000	0.35671	0.595000	0.36748	2.248000	0.43160	0.215000	0.20761	-0.136000	0.14681	AAG		0.373	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		6	214	0	0	0	1	0	6	214				
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:6225029A>G	ENST00000264870.3	-	7	1128	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(862-864)gTc>gCc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110.0	104.0	106.0					6																	6225029		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225029A>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.863T>C	6.37:g.6225029A>G	ENSP00000264870:p.Val288Ala						p.V288A	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1128	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.863T>C	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.832090|2.832090	0.50845|0.50845	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96041	.|-3.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.93390|0.93390	0.7892|0.7892	M|M	0.62209|0.62209	1.925|1.925	0.20489|0.20489	N|N	0.999891|0.999891	.|P;P	.|0.43788	.|0.66;0.817	.|B;P	.|0.47015	.|0.23;0.534	D|D	0.89821|0.89821	0.3989|0.3989	5|10	.|0.52906	.|T	.|0.07	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	P|A	5|288;225	.|ENSP00000264870:V288A	.|ENSP00000264870:V288A	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		104	241	0	0	0	1	0	104	241				
PSG3	5671	broad.mit.edu	37	19	43237088	43237088	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:43237088C>T	ENST00000327495.5	-	3	741	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	186	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.488																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(556-558)aGc>aAc		pregnancy specific beta-1-glycoprotein 3							231.0	230.0	230.0					19																	43237088		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237088C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.557G>A	19.37:g.43237088C>T	ENSP00000332215:p.Ser186Asn					PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	741	-		Prostate(69;0.00682)	186			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.557G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	7.246	0.602252	0.13939	.	.	ENSG00000221826	ENST00000327495	T	0.12361	2.69	1.59	-1.53	0.08611	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12774	0.0310	M	0.64567	1.98	0.09310	N	1	B;B	0.28378	0.209;0.006	B;B	0.30782	0.12;0.012	T	0.36212	-0.9757	9	0.54805	T	0.06	.	2.5923	0.04846	0.0:0.4556:0.3146:0.2298	.	164;186	Q08266;Q16557	.;PSG3_HUMAN	N	186	ENSP00000332215:S186N	ENSP00000332215:S186N	S	-	2	0	PSG3	47928928	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-0.592000	0.05747	0.021000	0.15133	0.393000	0.25936	AGC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		245	848	0	0	0	1	0	245	848				
RBP3	5949	broad.mit.edu	37	10	48389752	48389752	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:48389752G>A	ENST00000224600.4	-	1	1239	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	376	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGCCTGCAGGCCGGCATTG	0.652																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1126-1128)Ctg>Ttg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						33.0	36.0	35.0					10																	48389752		2201	4300	6501	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389752G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1126C>T	10.37:g.48389752G>A							p.L376L	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1239	-			376			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1126C>T	CCDS7218.1																																																																																				0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		52	186	0	0	0	1	0	52	186				
PMS2	5395	broad.mit.edu	37	7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	96					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTAGGTCGGCAAACTCTTG	0.403			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(286-288)gCc>gTc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							55.0	62.0	60.0					7																	6043387		1424	2456	3880	SO:0001583	missense	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043387G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.287C>T	7.37:g.6043387G>A	ENSP00000265849:p.Ala96Val					PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron	p.A96V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	392	-		Ovarian(82;0.0694)	96					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.287C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760290	0.49468	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.74421	-0.84;-0.84;-0.84	5.68	4.8	0.61643	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.181750	0.48767	D	0.000165	T	0.68467	0.3004	L	0.45698	1.435	0.80722	D	1	B;P;P	0.49447	0.025;0.924;0.493	B;B;B	0.40677	0.003;0.337;0.12	T	0.67229	-0.5723	10	0.27082	T	0.32	-5.7265	16.7528	0.85490	0.0:0.1292:0.8708:0.0	.	96;96;96	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	96;49;96;96	ENSP00000265849:A96V;ENSP00000371758:A96V;ENSP00000384308:A96V	ENSP00000265849:A96V	A	-	2	0	PMS2	6009913	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.309000	0.72825	1.383000	0.46405	0.484000	0.47621	GCC		0.403	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		5	255	0	0	0	1	0	5	255				
LRRTM4	80059	broad.mit.edu	37	2	77745555	77745555	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:77745555A>G	ENST00000409093.1	-	3	1776	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	LRRTM4_ENST00000409088.3_Silent_p.P480P|LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409282.1_Silent_p.P481P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	480					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCCTGTAAAGGGGAATTCA	0.473																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1438-1440)ccT>ccC		leucine rich repeat transmembrane neuronal 4							91.0	88.0	89.0					2																	77745555		1871	4108	5979	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745555A>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1440T>C	2.37:g.77745555A>G						LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409093.1_Silent_p.P480P|LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P	p.P480P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1854	-			480					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1440T>C	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		27	101	0	0	0	1	0	27	101				
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:114270018G>A	ENST00000393494.2	+	5	834	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393500.3_Silent_p.Q110Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)caG>caA		forkhead box P2							48.0	44.0	45.0					7																	114270018		2197	4288	6485	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270018G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.555G>A	7.37:g.114270018G>A						FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q	p.Q110Q			O15409	FOXP2_HUMAN			11	1150	+			185			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.330G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	208	0	0	0	1	0	6	208				
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:186276366G>A	ENST00000445192.2	+	7	1560	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.E464E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1513-1515)gaG>gaA		proteoglycan 4							113.0	113.0	113.0					1																	186276366		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276366G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1515G>A	1.37:g.186276366G>A						PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367484.3_Intron	p.E505E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1560	+			505			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1515G>A	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	522	0	0	0	1	0	6	522				
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153.0	156.0	155.0					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			6	712	0	0	0	1	0	6	712				
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	lincRNA	SNP	C	C	A	rs7615369		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437									long intergenic non-protein coding RNA 969																		CTGAGCATCGCAGAGTCGTGC	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400841C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400841C>A														0	1437	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	134	1	0	6.40141e-05	1	6.59687e-05	5	134				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			11	380	0	0	0	1	0	11	380				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	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)			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						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				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.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		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.chr18:9887074G>A	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.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			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.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	853	0	0	0	1	0	8	853				
HERC2P3	283755	broad.mit.edu	37	15	20644684	20644684	+	RNA	SNP	G	G	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:20644684G>C	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGACGGCCAC	0.632																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644684G>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644684G>C														0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	17	0	0	0	1	0	6	17				
RMDN2	151393	broad.mit.edu	37	2	38202438	38202438	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:38202438G>T	ENST00000406384.1	+	4	905	c.711G>T	c.(709-711)aaG>aaT	p.K237N	RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N|RMDN2_ENST00000407257.1_Missense_Mutation_p.K415N|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	237						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K415N(1)									CACAAGAAAAGAAACATTATG	0.323																																						ENST00000407257.1																			1	Substitution - Missense(1)	p.K415N(1)	large_intestine(1)								c.(1243-1245)aaG>aaT		regulator of microtubule dynamics 2							106.0	106.0	106.0					2																	38202438		2203	4299	6502	SO:0001583	missense	151393							g.chr2:38202438G>T	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.711G>T	2.37:g.38202438G>T	ENSP00000386004:p.Lys237Asn					RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.K237N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N	p.K415N							4	1392	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1245G>T	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117169	0.56505	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.95	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89214	3.015	0.51012	D	0.999909	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.999;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	9.3542	0.38157	0.0997:0.0:0.9003:0.0	.	415;92;237;92	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	N	237;237;415;92;415;92	ENSP00000346549:K237N;ENSP00000386004:K237N;ENSP00000385049:K415N;ENSP00000392977:K92N;ENSP00000234195:K415N;ENSP00000416367:K92N	ENSP00000234195:K415N	K	+	3	2	FAM82A1	38055942	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.512000	0.35812	2.569000	0.86673	0.467000	0.42956	AAG		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		5	283	1	0	0.00198382	1	0.00201365	5	283				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	236	0	0	0	1	0	4	236				
FSD2	123722	broad.mit.edu	37	15	83428187	83428187	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:83428187A>T	ENST00000334574.8	-	13	2344	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	FSD2_ENST00000541889.1_Missense_Mutation_p.F676L|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000559366.1_RNA|RP11-752G15.6_ENST00000561107.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	721	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGGGATGCACAAATTCGTGAA	0.353																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(2161-2163)ttT>ttA		fibronectin type III and SPRY domain containing 2							69.0	68.0	68.0					15																	83428187		1850	4099	5949	SO:0001583	missense	123722							g.chr15:83428187A>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2163T>A	15.37:g.83428187A>T	ENSP00000335651:p.Phe721Leu					FSD2_ENST00000541889.1_Missense_Mutation_p.F676L	p.F721L			A1L4K1	FSD2_HUMAN			13	2344	-			721			B30.2/SPRY.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.2163T>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	a	7.160	0.585445	0.13749	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.12774	2.65;2.65	5.86	0.72	0.18214	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.615004	0.18017	N	0.154344	T	0.06416	0.0165	N	0.17312	0.475	0.21652	N	0.999601	B;B	0.09022	0.001;0.002	B;B	0.14578	0.008;0.011	T	0.43180	-0.9407	10	0.11485	T	0.65	-4.2398	6.5093	0.22212	0.4824:0.3813:0.1363:0.0	.	676;721	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	721;676	ENSP00000335651:F721L;ENSP00000444078:F676L	ENSP00000335651:F721L	F	-	3	2	FSD2	81225241	0.478000	0.25917	0.213000	0.23690	0.726000	0.41606	-0.045000	0.12003	0.146000	0.19002	-0.319000	0.08680	TTT		0.353	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		24	69	0	0	0	1	0	24	69				
POLR3B	55703	broad.mit.edu	37	12	106820973	106820973	+	Splice_Site	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:106820973A>T	ENST00000228347.4	+	13	1323		c.e13-1		POLR3B_ENST00000549195.1_Splice_Site|POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							9.0	10.0	9.0					12																	106820973		2166	4272	6438	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820973A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1A>T	12.37:g.106820973A>T						POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site		NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1323	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37		CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750467	0.49257	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6856	0.77409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR3B	105345103	1.000000	0.71417	0.646000	0.29493	0.887000	0.51463	8.550000	0.90675	2.176000	0.68965	0.455000	0.32223	.		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	6	40	0	0	0	1	0	6	40				
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		151	408	0	0	0	1	0	151	408				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			13	322	0	0	0	1	0	13	322				
POTEM	641455	broad.mit.edu	37	14	20019852	20019852	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:20019852G>A	ENST00000551509.1	-	1	420	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	123										endometrium(4)|kidney(1)|lung(4)	9						CGCTGTCGTCGTAGTCTCCCC	0.597																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(367-369)taC>taT		POTE ankyrin domain family, member M							50.0	59.0	57.0					14																	20019852		340	1061	1401	SO:0001819	synonymous_variant	641455							g.chr14:20019852G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.369C>T	14.37:g.20019852G>A							p.Y123Y	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	420	-			123						Silent	SNP	ENST00000551509.1	37	c.369C>T	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		122	788	0	0	0	1	0	122	788				
IQCE	23288	broad.mit.edu	37	7	2617923	2617923	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:2617923C>T	ENST00000402050.2	+	7	697	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000325979.7_Silent_p.L106L|IQCE_ENST00000404984.1_Silent_p.L120L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	171						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAACGAAGCTCCGGCGCCTGG	0.612																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)ctC>ctT		IQ motif containing E							65.0	75.0	72.0					7																	2617923		2146	4247	6393	SO:0001819	synonymous_variant	23288							g.chr7:2617923C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.513C>T	7.37:g.2617923C>T						IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000325979.7_Silent_p.L106L	p.L171L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	7	697	+		Ovarian(82;0.0112)	171					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.513C>T	CCDS43542.1																																																																																				0.612	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		64	200	0	0	0	1	0	64	200				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	126	0	0	0	1	0	4	126				
COL24A1	255631	broad.mit.edu	37	1	86196283	86196283	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:86196283A>G	ENST00000370571.2	-	60	5457	c.5091T>C	c.(5089-5091)caT>caC	p.H1697H	COL24A1_ENST00000436319.1_Silent_p.H1676H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1697	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTTTTGAGATGAGGAAGTT	0.393																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(5089-5091)caT>caC		collagen, type XXIV, alpha 1							144.0	135.0	138.0					1																	86196283		1869	4101	5970	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86196283A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.5091T>C	1.37:g.86196283A>G						COL24A1_ENST00000436319.1_Silent_p.H1676H	p.H1697H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	60	5457	-			1697			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.5091T>C	CCDS41353.1																																																																																				0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		68	183	0	0	0	1	0	68	183				
KCNH3	23416	broad.mit.edu	37	12	49943305	49943305	+	Missense_Mutation	SNP	G	G	A	rs201995852		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49943305G>A	ENST00000257981.6	+	9	1810	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	517					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCACAGCCGCACGCGCGAC	0.637																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1549-1551)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 3							81.0	70.0	74.0					12																	49943305		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943305G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1550G>A	12.37:g.49943305G>A	ENSP00000257981:p.Arg517His						p.R517H	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			9	1810	+			517					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1550G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976805	0.92982	.	.	ENSG00000135519	ENST00000257981	D	0.96802	-4.13	4.89	4.0	0.46444	Cyclic nucleotide-binding-like (1);	0.136777	0.34460	N	0.003957	D	0.93406	0.7897	M	0.65320	2	0.44073	D	0.996821	P	0.51791	0.948	B	0.36186	0.219	D	0.92864	0.6308	10	0.72032	D	0.01	.	11.3196	0.49412	0.0892:0.0:0.9108:0.0	.	517	Q9ULD8	KCNH3_HUMAN	H	517	ENSP00000257981:R517H	ENSP00000257981:R517H	R	+	2	0	KCNH3	48229572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.599000	0.74127	1.441000	0.47550	-0.140000	0.14226	CGC		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		50	84	0	0	0	1	0	50	84				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	57	0	0	0	1	0	4	57				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			7	161	0	0	0	1	0	7	161				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	846	0	0	0	1	0	8	846				
PXDNL	137902	broad.mit.edu	37	8	52321490	52321490	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:52321490G>A	ENST00000356297.4	-	17	2794	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	PXDNL_ENST00000543296.1_Silent_p.N898N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	898					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCGTAAACGTTGGAGCCAT	0.622																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2692-2694)aaC>aaT		peroxidasin homolog (Drosophila)-like							43.0	48.0	46.0					8																	52321490		2017	4166	6183	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321490G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2694C>T	8.37:g.52321490G>A						PXDNL_ENST00000543296.1_Silent_p.N898N	p.N898N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2794	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	898					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2694C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159576	0.01686	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.01	-2.84	0.05751	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.51482	D	0.999926	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	4.4763	0.11745	0.6029:0.0:0.2268:0.1703	.	.	.	.	M	17	.	.	T	-	2	0	PXDNL	52484043	0.178000	0.23122	0.000000	0.03702	0.005000	0.04900	-0.180000	0.09754	-0.477000	0.06832	0.655000	0.94253	ACG		0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		74	195	0	0	0	1	0	74	195				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	97	0	0	0	1	0	9	97				
CD72	971	broad.mit.edu	37	9	35612958	35612958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612958G>A	ENST00000396757.1	-	7	885	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*			P21854	CD72_HUMAN	CD72 molecule	241	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTTTCTGATGCATTATC	0.423																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(721-723)Cag>Tag		CD72 molecule							176.0	158.0	164.0					9																	35612958		2203	4300	6503	SO:0001587	stop_gained	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612958G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.721C>T	9.37:g.35612958G>A	ENSP00000379980:p.Gln241*					CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*|CD72_ENST00000490239.1_5'UTR	p.Q241*			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	885	-			241			C-type lectin.			Nonsense_Mutation	SNP	ENST00000396757.1	37	c.721C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246112	0.39697	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	5.64	-8.57	0.00900	.	1.612920	0.03479	N	0.214846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.8721	5.8297	0.18574	0.1016:0.1066:0.5565:0.2353	.	.	.	.	X	241	.	ENSP00000259633:Q241X	Q	-	1	0	CD72	35602958	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.213000	0.02991	-1.115000	0.02973	-0.345000	0.07892	CAG		0.423	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		261	7718	0	0	0	1	0	261	7718				
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6373-6375)Cac>Aac		AHNAK nucleoprotein							193.0	207.0	202.0					11																	62295516		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295516G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6373C>A	11.37:g.62295516G>T	ENSP00000367263:p.His2125Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.H2125N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6647	-		Melanoma(852;0.155)	2125					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6373C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.897177	0.00059	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00705	5.81	3.51	-7.02	0.01589	.	.	.	.	.	T	0.00356	0.0011	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48581	-0.9023	9	0.07813	T	0.8	.	15.9759	0.80063	0.0:0.0:0.7207:0.2793	.	2125	Q09666	AHNK_HUMAN	N	214;2125	ENSP00000367263:H2125N	ENSP00000244934:H214N	H	-	1	0	AHNAK	62052092	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-2.290000	0.01148	-1.362000	0.02166	-0.887000	0.02937	CAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	1104	1	0	0.00116845	1	0.001195	8	1104				
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|NDUFA6-AS1_ENST00000416037.2_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTAGGGCATGTGAGCCTGGTC	0.592																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1054-1056)cAc>cGc		cytochrome P450, family 2, subfamily D, polypeptide 6							99.0	76.0	84.0					22																	42523567		2203	4300	6503	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523567T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1055A>G	22.37:g.42523567T>C	ENSP00000353820:p.His352Arg					CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R	p.H352R	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			7	1169	-			352					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1055A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874767	0.00542	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78003	-1.14;-1.14;5.16	4.93	-5.98	0.02220	.	0.762168	0.12266	N	0.484237	T	0.44371	0.1290	N	0.03209	-0.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49799	-0.8901	10	0.02654	T	1	.	9.7516	0.40478	0.0989:0.2372:0.0:0.6639	.	352;301;352	C1ID54;Q6NXU8;Q6NWU0	.;.;.	R	352;352;298;301;301	ENSP00000353820:H352R;ENSP00000374620:H352R;ENSP00000351927:H301R	ENSP00000351927:H301R	H	-	2	0	CYP2D6	40853511	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-0.542000	0.06091	-1.267000	0.02443	-1.442000	0.01069	CAC		0.592	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			6	177	0	0	0	1	0	6	177				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	153	0	0	0	1	0	4	153				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			7	187	0	0	0	1	0	7	187				
CD72	971	broad.mit.edu	37	9	35612889	35612889	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612889G>A	ENST00000396757.1	-	7	954	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.L264L			P21854	CD72_HUMAN	CD72 molecule	264	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGAAGACAGAGTTTCACAT	0.418																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(790-792)Ctg>Ttg		CD72 molecule							255.0	228.0	237.0					9																	35612889		2203	4300	6503	SO:0001819	synonymous_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612889G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.790C>T	9.37:g.35612889G>A						CD72_ENST00000259633.4_Silent_p.L264L|CD72_ENST00000490239.1_5'UTR	p.L264L			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	954	-			264			C-type lectin.			Silent	SNP	ENST00000396757.1	37	c.790C>T	CCDS6581.1																																																																																				0.418	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		265	8812	0	0	0	1	0	265	8812				
CRNN	49860	broad.mit.edu	37	1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234.0	198.0	210.0					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		6	697	0	0	0	1	0	6	697				
MPC2	25874	broad.mit.edu	37	1	167893745	167893745	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:167893745A>C	ENST00000367846.4	-	2	338	c.140T>G	c.(139-141)aTt>aGt	p.I47S	MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	47					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										CCATTTCATAATTGGAGCCCA	0.308																																						ENST00000367846.4																			0											c.(139-141)aTt>aGt		mitochondrial pyruvate carrier 2							20.0	21.0	21.0					1																	167893745		2202	4288	6490	SO:0001583	missense	25874							g.chr1:167893745A>C		CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.140T>G	1.37:g.167893745A>C	ENSP00000356820:p.Ile47Ser					MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	p.I47S	NM_015415.3	NP_056230.1					2	338	-								A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	37	c.140T>G	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990970	0.74703	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.71934	-0.61;-0.61;-0.61	5.72	5.72	0.89469	.	0.194064	0.52532	D	0.000064	T	0.49795	0.1578	L	0.42008	1.315	0.36777	D	0.884147	P;P	0.39717	0.684;0.684	B;B	0.35182	0.197;0.197	T	0.61657	-0.7018	9	0.51188	T	0.08	-5.0285	13.8186	0.63308	1.0:0.0:0.0:0.0	.	47;47	B2R4Q7;O95563	.;BR44_HUMAN	S	47	ENSP00000356820:I47S;ENSP00000271373:I47S;ENSP00000392874:I47S	ENSP00000271373:I47S	I	-	2	0	BRP44	166160369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.363000	0.79516	2.311000	0.77944	0.533000	0.62120	ATT		0.308	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415		20	78	0	0	0	1	0	20	78				
SLC35B3	51000	broad.mit.edu	37	6	8430252	8430252	+	Missense_Mutation	SNP	C	C	T	rs550117055		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:8430252C>T	ENST00000379660.4	-	3	591	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M|SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	48					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTGGATGGCACAGTGATAGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.001		0.0	False		,,,				2504	0.0				Melanoma(83;700 1353 9357 11478 30548)	ENST00000379660.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.(142-144)Gtg>Atg		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3							180.0	159.0	166.0					6																	8430252		2203	4300	6503	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8430252C>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.142G>A	6.37:g.8430252C>T	ENSP00000368981:p.Val48Met					SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M|SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M	p.V48M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN			3	591	-	Ovarian(93;0.0569)		48					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.142G>A	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537066	0.45176	.	.	ENSG00000124786	ENST00000379660;ENST00000339306;ENST00000426876	T;T	0.54071	1.23;0.59	5.88	4.09	0.47781	.	0.219196	0.48286	N	0.000187	T	0.23572	0.0570	L	0.32530	0.975	0.45946	D	0.998777	P;B;B	0.51351	0.944;0.022;0.039	B;B;B	0.40825	0.341;0.014;0.014	T	0.03503	-1.1030	9	.	.	.	-9.0483	9.1897	0.37191	0.0:0.7267:0.0:0.2733	.	48;48;48	B4E2F5;Q9H1N7;B2R8V5	.;S35B3_HUMAN;.	M	48;48;114	ENSP00000368981:V48M;ENSP00000345902:V48M	.	V	-	1	0	SLC35B3	8375251	0.999000	0.42202	0.964000	0.40570	0.978000	0.69477	1.891000	0.39738	1.503000	0.48686	0.637000	0.83480	GTG		0.378	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		89	166	0	0	0	1	0	89	166				
KSR1	8844	broad.mit.edu	37	17	25783764	25783764	+	Missense_Mutation	SNP	C	C	T	rs79564666	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:25783764C>T	ENST00000319524.6	+	1	95	c.95C>T	c.(94-96)gCc>gTc	p.A32V	KSR1_ENST00000509603.2_Missense_Mutation_p.A32V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	32					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCGCAGGGGCCGCGGCCAGC	0.736																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(94-96)gCc>gTc		kinase suppressor of ras 1							10.0	11.0	11.0					17																	25783764		870	1980	2850	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783764C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.95C>T	17.37:g.25783764C>T	ENSP00000323178:p.Ala32Val					KSR1_ENST00000509603.2_Missense_Mutation_p.A32V	p.A32V			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	95	+	Lung NSC(42;0.00836)		30					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.95C>T		495	0.22664835164835165	112	0.22764227642276422	66	0.18232044198895028	124	0.21678321678321677	193	0.2546174142480211	C	24.8	4.574503	0.86542	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	T;T	0.80480	-1.38;-1.38	4.58	2.36	0.29203	.	0.157459	0.40728	N	0.001036	T	0.00039	0.0001	.	.	.	0.09310	P	0.9999999999940314	.	.	.	.	.	.	T	0.01869	-1.1257	6	0.30078	T	0.28	.	9.6283	0.39763	0.1593:0.6865:0.1542:0.0	.	.	.	.	V	32	ENSP00000323178:A32V;ENSP00000438795:A32V	ENSP00000323178:A32V	A	+	2	0	KSR1	22807891	0.945000	0.32115	1.000000	0.80357	0.961000	0.63080	0.486000	0.22340	1.023000	0.39654	0.462000	0.41574	GCC		0.736	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	77	0	0	0	1	0	4	77				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	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		6	288	0	0	0	1	0	6	288				
LINC00969	440993	broad.mit.edu	37	3	195391062	195391062	+	lincRNA	SNP	C	C	G	rs2688562	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:195391062C>G	ENST00000445430.1	+	0	588									long intergenic non-protein coding RNA 969																		GCAGGCCCATCGGTGCTGCTG	0.537																																						ENST00000445430.1																			0																																																			0							g.chr3:195391062C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195391062C>G														0	588	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.537	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	300	0	0	0	1	0	5	300				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	181	0	0	0	1	0	11	181				
PNKP	11284	broad.mit.edu	37	19	50365046	50365046	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:50365046G>A	ENST00000322344.3	-	14	1390	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600910.1_Intron|PNKP_ENST00000600573.1_Silent_p.D396D|PNKP_ENST00000596014.1_Silent_p.D427D|AC018766.5_ENST00000599259.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	427	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGCTCGCGGCGTCTGGGTTTG	0.687								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1279-1281)gaC>gaT	Other BER factors	polynucleotide kinase 3'-phosphatase																																				SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365046G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1281C>T	19.37:g.50365046G>A						PNKP_ENST00000600573.1_Silent_p.D396D|PNKP_ENST00000596014.1_Silent_p.D427D|PNKP_ENST00000600910.1_Intron	p.D427D	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	14	1390	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	427					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.1281C>T	CCDS12783.1																																																																																				0.687	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		6	14	0	0	0	1	0	6	14				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	167	0	0	0	1	0	5	167				
CELSR2	1952	broad.mit.edu	37	1	109792765	109792765	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgttgctgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(64-66)Ctg>Ttg		cadherin, EGF LAG seven-pass G-type receptor 2							9.0	12.0	11.0					1																	109792765		2003	3967	5970	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792765C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.64C>T	1.37:g.109792765C>T							p.L22L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	125	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	22					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.64C>T	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	116	0	0	0	1	0	4	116				
NYNRIN	57523	broad.mit.edu	37	14	24886612	24886612	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24886612A>G	ENST00000382554.3	+	9	5975	c.5657A>G	c.(5656-5658)aAg>aGg	p.K1886R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1886					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTTTGCCAAGAGTGGCACC	0.637																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5656-5658)aAg>aGg		NYN domain and retroviral integrase containing							12.0	13.0	13.0					14																	24886612		1912	4107	6019	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886612A>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5657A>G	14.37:g.24886612A>G	ENSP00000371994:p.Lys1886Arg						p.K1886R	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5975	+			1886					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5657A>G	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706588	0.48412	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	3.72	0.42706	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.22954	N	0.998512	B	0.15719	0.014	B	0.12156	0.007	T	0.28554	-1.0040	9	0.62326	D	0.03	.	7.2504	0.26146	0.8999:0.0:0.1001:0.0	.	1886	Q9P2P1	NYNRI_HUMAN	R	1886	ENSP00000371994:K1886R	ENSP00000371994:K1886R	K	+	2	0	NYNRIN	23956452	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.953000	0.56699	0.983000	0.38602	0.460000	0.39030	AAG		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	28	0	0	0	1	0	7	28				
ZNF160	90338	broad.mit.edu	37	19	53572263	53572263	+	Silent	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:53572263A>C	ENST00000429604.1	-	7	1939	c.1524T>G	c.(1522-1524)ccT>ccG	p.P508P	ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000601421.1_Silent_p.P472P|ZNF160_ENST00000599056.1_Silent_p.P508P	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	508					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TACACTTGTAAGGTTTCTCTC	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1414-1416)ccT>ccG		zinc finger protein 160							100.0	101.0	101.0					19																	53572263		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572263A>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1524T>G	19.37:g.53572263A>C						ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000429604.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P	p.P472P			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2292	-			508					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.1416T>G	CCDS12859.1																																																																																				0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		100	296	0	0	0	1	0	100	296				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			9	330	0	0	0	1	0	9	330				
NRXN1	9378	broad.mit.edu	37	2	50765572	50765572	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:50765572T>G	ENST00000406316.2	-	10	3438	c.1962A>C	c.(1960-1962)aaA>aaC	p.K654N	NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N|NRXN1_ENST00000404971.1_Missense_Mutation_p.K694N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	654	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCGGATATCTTTGCTTTGGC	0.498																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2080-2082)aaA>aaC		neurexin 1							249.0	261.0	257.0					2																	50765572		2195	4297	6492	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765572T>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1962A>C	2.37:g.50765572T>G	ENSP00000384311:p.Lys654Asn					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K654N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N	p.K694N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3421	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	654			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2082A>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381063	0.61845	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.66939	2.045	0.36502	D	0.869045	D;D;P	0.61697	0.99;0.967;0.729	P;P;B	0.62885	0.908;0.592;0.334	D	0.87073	0.2161	10	0.66056	D	0.02	.	10.8231	0.46617	0.0:0.074:0.0:0.926	.	694;654;646	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	694;654;646;654;695;646;654	ENSP00000385142:K694N;ENSP00000384311:K654N;ENSP00000434015:K646N;ENSP00000385017:K654N;ENSP00000385434:K646N;ENSP00000385681:K654N	ENSP00000385017:K654N	K	-	3	2	NRXN1	50619076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.983000	0.38602	0.477000	0.44152	AAA		0.498	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			291	1041	0	0	0	1	0	291	1041				
SF3B2	10992	broad.mit.edu	37	11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:65826742C>T	ENST00000322535.6	+	11	1302	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A401V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	418					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1201-1203)gCc>gTc		splicing factor 3b, subunit 2, 145kDa							62.0	55.0	58.0					11																	65826742		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826742C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1253C>T	11.37:g.65826742C>T	ENSP00000318861:p.Ala418Val					SF3B2_ENST00000322535.6_Missense_Mutation_p.A418V	p.A401V			Q13435	SF3B2_HUMAN			10	1256	+			418					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1202C>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315405	0.23908	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	-0.939	0.10408	.	0.379232	0.29073	N	0.013223	T	0.23289	0.0563	L	0.27053	0.805	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	9	0.18276	T	0.48	0.0053	8.4596	0.32921	0.0:0.4852:0.0:0.5148	.	418	Q13435	SF3B2_HUMAN	V	401;418;322	.	ENSP00000318861:A418V	A	+	2	0	SF3B2	65583318	0.339000	0.24784	0.028000	0.17463	0.984000	0.73092	0.269000	0.18589	-0.516000	0.06470	0.555000	0.69702	GCC		0.532	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			26	95	0	0	0	1	0	26	95				
TLR6	10333	broad.mit.edu	37	4	38830535	38830535	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:38830535T>A	ENST00000381950.1	-	1	625	c.560A>T	c.(559-561)gAg>gTg	p.E187V	TLR6_ENST00000436693.2_Missense_Mutation_p.E187V			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	187					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTTCTGTCTCATTTTCTTT	0.318																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(559-561)gAg>gTg		toll-like receptor 6							30.0	33.0	32.0					4																	38830535		2193	4299	6492	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830535T>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.560A>T	4.37:g.38830535T>A	ENSP00000371376:p.Glu187Val					TLR6_ENST00000381950.1_Missense_Mutation_p.E187V	p.E187V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	679	-			187					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.560A>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	6.087	0.384310	0.11524	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.02301	4.35;4.35	5.44	1.66	0.24008	.	0.426300	0.23090	N	0.052057	T	0.03564	0.0102	M	0.77103	2.36	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33523	-0.9865	10	0.87932	D	0	.	4.5985	0.12341	0.1363:0.2183:0.0:0.6454	.	187	Q9Y2C9	TLR6_HUMAN	V	187	ENSP00000389600:E187V;ENSP00000371376:E187V	ENSP00000371376:E187V	E	-	2	0	TLR6	38506930	0.005000	0.15991	0.001000	0.08648	0.507000	0.33981	0.664000	0.25068	0.350000	0.24002	0.260000	0.18958	GAG		0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			4	166	0	0	0	1	0	4	166				
FAM91A1	157769	broad.mit.edu	37	8	124787493	124787493	+	Silent	SNP	A	A	G	rs368811106		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787493A>G	ENST00000334705.7	+	3	510	c.264A>G	c.(262-264)aaA>aaG	p.K88K	FAM91A1_ENST00000521166.1_Silent_p.K88K	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	88										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATGGTGAAAGGCTTGAGGA	0.438																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(262-264)aaA>aaG		family with sequence similarity 91, member A1		G		0,3922		0,0,1961	135.0	124.0	127.0		264	1.5	1.0	8		127	1,8293		0,1,4146	no	coding-synonymous	FAM91A1	NM_144963.2		0,1,6107	GG,GA,AA		0.0121,0.0,0.0082		88/839	124787493	1,12215	1961	4147	6108	SO:0001819	synonymous_variant	157769							g.chr8:124787493A>G	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.264A>G	8.37:g.124787493A>G						FAM91A1_ENST00000521166.1_Silent_p.K88K	p.K88K	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	510	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		88					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.264A>G	CCDS6346.2																																																																																				0.438	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		6	289	0	0	0	1	0	6	289				
C19orf35	374872	broad.mit.edu	37	19	2278825	2278825	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:2278825A>T	ENST00000342063.3	-	3	463	c.370T>A	c.(370-372)Tcc>Acc	p.S124T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	124										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGGAGGGAGAGGCCCAGT	0.687																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(370-372)Tcc>Acc		chromosome 19 open reading frame 35							9.0	10.0	10.0					19																	2278825		2181	4282	6463	SO:0001583	missense	374872							g.chr19:2278825A>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.370T>A	19.37:g.2278825A>T	ENSP00000345102:p.Ser124Thr						p.S124T	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	463	-			124						Missense_Mutation	SNP	ENST00000342063.3	37	c.370T>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655242	0.14580	.	.	ENSG00000188305	ENST00000342063	T	0.14144	2.53	4.16	-0.449	0.12226	.	.	.	.	.	T	0.08179	0.0204	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.29176	0.099	T	0.37103	-0.9720	9	0.11485	T	0.65	.	4.3547	0.11172	0.4382:0.0:0.3987:0.1632	.	124	Q6ZS72	CS035_HUMAN	T	124	ENSP00000345102:S124T	ENSP00000345102:S124T	S	-	1	0	C19orf35	2229825	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.277000	0.08502	-0.538000	0.06281	0.363000	0.22086	TCC		0.687	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		6	28	0	0	0	1	0	6	28				
FBN1	2200	broad.mit.edu	37	15	48714160	48714160	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:48714160G>A	ENST00000316623.5	-	61	8014	c.7559C>T	c.(7558-7560)aCg>aTg	p.T2520M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATGCAGGACGTATGGTGTTG	0.433																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM074795	FBN1	M		c.(7558-7560)aCg>aTg		fibrillin 1							107.0	92.0	97.0					15																	48714160		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48714160G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7559C>T	15.37:g.48714160G>A	ENSP00000325527:p.Thr2520Met						p.T2520M	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	61	8014	-		all_lung(180;0.00279)	2520			EGF-like 43; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7559C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480453	0.63849	.	.	ENSG00000166147	ENST00000316623	D	0.92858	-3.12	6.08	6.08	0.98989	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091594	0.85682	D	0.000000	D	0.95214	0.8448	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.93720	0.7032	10	0.40728	T	0.16	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2520	P35555	FBN1_HUMAN	M	2520	ENSP00000325527:T2520M	ENSP00000325527:T2520M	T	-	2	0	FBN1	46501452	1.000000	0.71417	0.849000	0.33467	0.618000	0.37518	5.623000	0.67757	2.894000	0.99253	0.655000	0.94253	ACG		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			48	159	0	0	0	1	0	48	159				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		8	1059	0	0	0	1	0	8	1059				
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	116	0	0	0	1	0	4	116				
SLIT2	9353	broad.mit.edu	37	4	20618553	20618553	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:20618553G>A	ENST00000504154.1	+	35	4120	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1290	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGAGTAACGTGGCATCTCT	0.562																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3868-3870)Gtg>Atg		slit homolog 2 (Drosophila)							44.0	43.0	43.0					4																	20618553		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618553G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3868G>A	4.37:g.20618553G>A	ENSP00000422591:p.Val1290Met					SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M	p.V1290M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4120	+			1290			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3868G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062304	0.55432	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.96	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.919326	0.09535	N	0.788994	T	0.60702	0.2289	N	0.25890	0.77	0.28499	N	0.914096	P;P	0.41673	0.759;0.678	B;B	0.35413	0.197;0.202	T	0.55418	-0.8144	10	0.45353	T	0.12	.	10.0633	0.42288	0.2:0.0:0.8:0.0	.	1282;1290	O94813-3;O94813	.;SLIT2_HUMAN	M	1282;1290;1303;1286;1286	ENSP00000427548:V1282M;ENSP00000422591:V1290M;ENSP00000273739:V1303M;ENSP00000422261:V1286M	ENSP00000273739:V1303M	V	+	1	0	SLIT2	20227651	0.979000	0.34478	0.997000	0.53966	0.989000	0.77384	1.895000	0.39778	2.833000	0.97629	0.650000	0.86243	GTG		0.562	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			55	168	0	0	0	1	0	55	168				
KRTAP4-11	653240	broad.mit.edu	37	17	39274360	39274360	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39274360A>T	ENST00000391413.2	-	1	246	c.208T>A	c.(208-210)Tgc>Agc	p.C70S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	70	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				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)			CTGGAGATGCAGCATCTGGGG	0.667																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(208-210)Tgc>Agc		keratin associated protein 4-11							7.0	12.0	11.0					17																	39274360		677	1580	2257	SO:0001583	missense	653240					keratin filament		g.chr17:39274360A>T	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.208T>A	17.37:g.39274360A>T	ENSP00000375232:p.Cys70Ser						p.C70S	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	246	-		Breast(137;0.000496)	70		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.208T>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219303	0.39201	.	.	ENSG00000212721	ENST00000391413	T	0.02280	4.36	3.77	1.34	0.21922	.	0.000000	0.36972	U	0.002304	T	0.04770	0.0129	M	0.90252	3.1	0.23636	N	0.997233	B	0.17268	0.021	B	0.17722	0.019	T	0.23048	-1.0199	10	0.54805	T	0.06	.	4.9719	0.14119	0.7038:0.1861:0.1101:0.0	.	70	Q9BYQ6	KR411_HUMAN	S	70	ENSP00000375232:C70S	ENSP00000375232:C70S	C	-	1	0	KRTAP4-11	36527886	0.844000	0.29557	0.494000	0.27515	0.120000	0.20174	1.052000	0.30429	0.644000	0.30656	0.496000	0.49642	TGC		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	335	0	0	0	1	0	5	335				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	175	0	0	0	1	0	7	175				
ADAM11	4185	broad.mit.edu	37	17	42851860	42851860	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:42851860T>C	ENST00000200557.6	+	13	1247	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCACCCCCAGTACGGCAACAT	0.632																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e13-1		ADAM metallopeptidase domain 11							40.0	37.0	38.0					17																	42851860		2202	4300	6502	SO:0001630	splice_region_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42851860T>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1078-1T>C	17.37:g.42851860T>C						ADAM11_ENST00000535346.1_Splice_Site_p.Y160_splice	p.Y360_splice	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			13	1247	+		Prostate(33;0.0959)	360			Peptidase M12B.		Q14808|Q14809|Q14810	Splice_Site	SNP	ENST00000200557.6	37	c.1077_splice	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812808	0.90707	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09817	2.94;2.94	5.04	5.04	0.67666	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.213347	0.41605	D	0.000843	T	0.23926	0.0579	L	0.45051	1.395	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.73708	0.98;0.981	T	0.00675	-1.1615	9	.	.	.	.	13.8849	0.63702	0.0:0.0:0.0:1.0	.	160;360	B4DKD2;O75078	.;ADA11_HUMAN	H	360;160;260	ENSP00000200557:Y360H;ENSP00000443773:Y160H	.	Y	+	1	0	ADAM11	40207386	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.862000	0.69560	2.111000	0.64477	0.379000	0.24179	TAC		0.632	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	Missense_Mutation	26	83	0	0	0	1	0	26	83				
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	rs373454335		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(409-411)gGg>gTg		aquaporin 7																																				SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385585C>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.410G>T	9.37:g.33385585C>A	ENSP00000438860:p.Gly137Val					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.G137V			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	c	6.340	0.430890	0.12045	.	.	ENSG00000165269	ENST00000541274	T	0.58940	0.3	4.16	-1.14	0.09741	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	B	0.34372	0.451	B	0.31686	0.134	T	0.32929	-0.9888	8	0.87932	D	0	.	3.9387	0.09316	0.0:0.3773:0.1846:0.4381	.	137	B7Z7F6	.	V	137	ENSP00000438860:G137V	ENSP00000438860:G137V	G	-	2	0	AQP7	33375585	0.004000	0.15560	0.024000	0.17045	0.041000	0.13682	0.014000	0.13333	-0.108000	0.12066	-0.270000	0.10280	GGG		0.602	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	312	1	0	5.4927e-09	1	5.79309e-09	6	312				
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	866						7	866	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		7	437						7	437	---	---	---	---
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:145682086delT	ENST00000369291.5	+	5	696	c.492delT	c.(490-492)cctfs	p.P164fs		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(490-492)ccfs		ring finger protein 115							197.0	190.0	193.0					1																	145682086		2203	4300	6503	SO:0001589	frameshift_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145682086delT	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.492delT	1.37:g.145682086delT	ENSP00000358297:p.Pro164fs						p.P164fs	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			5	696	+			164						Frame_Shift_Del	DEL	ENST00000369291.5	37	c.492delT	CCDS922.1																																																																																				0.363	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		7	672						7	672	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		14	279						14	279	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		10	419						10	419	---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246078893	246078893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:246078893delT	ENST00000388985.4	-	8	751	c.752delA	c.(751-753)aagfs	p.K251fs	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	251					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCTCAGCTGCTTCCGGCGCTC	0.527																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(574-576)agfs		SET and MYND domain containing 3							123.0	100.0	108.0					1																	246078893		2203	4300	6503	SO:0001589	frameshift_variant	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078893delT	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.752delA	1.37:g.246078893delT	ENSP00000373637:p.Lys251fs					SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000388985.4_Frame_Shift_Del_p.K251fs	p.K192fs	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	791	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	251			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Frame_Shift_Del	DEL	ENST00000388985.4	37	c.575delA	CCDS53486.1																																																																																				0.527	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		104	342						104	342	---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aaafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)aafs		mitochondrial ribosomal protein S5							100.0	103.0	102.0					2																	95775728		2203	4300	6503	SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775728delT	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.336delA	2.37:g.95775728delT	ENSP00000272418:p.Lys112fs						p.K112fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544	-			112					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	c.336delA	CCDS2010.1																																																																																				0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		7	618						7	618	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	567						7	567	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			9	25						9	25	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	346						9	346	---	---	---	---
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	163						7	163	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	240						7	240	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	672						7	672	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		13	351						13	351	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:3430399delA	ENST00000344733.5	+	16	4430	c.3526delA	c.(3526-3528)aaafs	p.K1178fs	RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000306648.7_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1178					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3526-3528)aafs		regulator of G-protein signaling 12							44.0	50.0	48.0					4																	3430399		2201	4300	6501	SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430399delA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3526delA	4.37:g.3430399delA	ENSP00000339381:p.Lys1178fs					RGS12_ENST00000538395.1_Intron|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs	p.K1178fs	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4430	+			1178					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	c.3526delA	CCDS3366.1																																																																																				0.328	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	340						8	340	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		12	476						12	476	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	390						7	390	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	852						8	852	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:16327907_16327909delTGA	ENST00000244769.4	-	8	1569_1571	c.633_635delTCA	c.(631-636)catcag>cag	p.H211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.67																																						ENST00000244769.4																			1	Deletion - In frame(1)	p.H209_H211delHQH(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(631-636)cag>ca		ataxin 1																																				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327907_16327909delTGA	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.633_635delTCA	6.37:g.16327907_16327909delTGA	ENSP00000244769:p.His211del					ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1569_1571	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	211	H -> HQ (in Ref. 1; CAA55793).		Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.633_635delTCA	CCDS34342.1																																																																																				0.670	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		13	61						13	61	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-	rs546542545		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(40-45)tcc>tc		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384091_26384093delCCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.42_44delCCT	6.37:g.26384100_26384102delCCT	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del	p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	153_155	+			14					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.42_44delCCT	CCDS4606.1																																																																																				0.581	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	295						7	295	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30681101	30681102	+	Frame_Shift_Ins	INS	-	-	C	rs201979375		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:30681101_30681102insC	ENST00000376406.3	-	5	1264_1265	c.617_618insG	c.(616-618)ggcfs	p.G206fs	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Ins_p.G206fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	206	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCCCAAGGCCGCCCAGGACCGG	0.53								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(616-618)gggfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1																																				SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681101_30681102insC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.618dupG	6.37:g.30681104_30681104dupC	ENSP00000365588:p.Gly206fs					MDC1_ENST00000376405.2_Frame_Shift_Ins_p.G206fs	p.G206fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1264_1265	-			206			Interaction with the MRN complex.|Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Ins	INS	ENST00000376406.3	37	c.617_618insG	CCDS34384.1																																																																																				0.530	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		10	188						10	188	---	---	---	---
LRRC73	221424	broad.mit.edu	37	6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1.0			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		8	230						8	230	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		9	44						9	44	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		7	342						7	342	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37960346	37960365	+	De_novo_Start_OutOfFrame	DEL	CCTGGTCCCGGCTACCGGGA	CCTGGTCCCGGCTACCGGGA	-	rs532446763		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37960346_37960365delCCTGGTCCCGGCTACCGGGA	ENST00000199448.4	+	0	184_203				EPDR1_ENST00000559325.1_Frame_Shift_Del_p.LVPATGT56fs|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTCCCCGGGCCCTGGTCCCGGCTACCGGGACTCGCGCGTC	0.659																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22								ependymin related 1																																						54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960346_37960365delCCTGGTCCCGGCTACCGGGA	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-177CCTGGTCCCGGCTACCGGGA>-	7.37:g.37960346_37960365delCCTGGTCCCGGCTACCGGGA						EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.ALVPATGT55fs|EPDR1_ENST00000476620.1_Intron		NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			0	184_203	+								A8K4C0|C9JYS3|Q06BL0|Q99M77	Translation_Start_Site	DEL	ENST00000199448.4	37		CCDS5454.2																																																																																				0.659	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	109						8	109	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		9	85						9	85	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2140-2142)del		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100280978_100280980delCTG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2140_2142delCAG	7.37:g.100280987_100280989delCTG	ENSP00000275732:p.Gln714del						p.Q714del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3349_3351	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		714					Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.2140_2142delCAG	CCDS34708.1																																																																																				0.650	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	848						7	848	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:100684307_100684308insCTC	ENST00000306151.4	+	3	9674_9675	c.9610_9611insCTC	c.(9610-9612)tct>tCTCct	p.3204_3205insP		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3204	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)					AGCCACTTCATCTACAACTGCT	0.5																																						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.(9610-9612)tac>CTCtac		mucin 17, cell surface associated																																				SO:0001652	inframe_insertion	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684307_100684308insCTC	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	Exception_encountered	7.37:g.100684307_100684308insCTC	ENSP00000302716:p.Ser3204_Thr3205insPro						p.3203_3204insL	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9674_9675	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3203			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	In_Frame_Ins	INS	ENST00000306151.4	37	c.9610_9611insCTC	CCDS34711.1																																																																																				0.500	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		14	1412						14	1412	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86041589	86041589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:86041589delA	ENST00000360375.3	+	10	1750	c.1601delA	c.(1600-1602)caafs	p.Q534fs	LRRCC1_ENST00000414626.2_Frame_Shift_Del_p.Q514fs	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	534					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATGGAGAGACAAAAAAGGCAG	0.333																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1540-1542)cafs		leucine rich repeat and coiled-coil centrosomal protein 1																																				SO:0001589	frameshift_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86041589delA	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1601delA	8.37:g.86041589delA	ENSP00000353538:p.Gln534fs					LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.Q534fs	p.Q514fs			Q9C099	LRCC1_HUMAN			9	2430	+			534					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Frame_Shift_Del	DEL	ENST00000360375.3	37	c.1541delA	CCDS43750.1																																																																																				0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		7	569						7	569	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		8	213						8	213	---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33466939	33466939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:33466939delG	ENST00000379471.2	-	15	2008	c.1921delC	c.(1921-1923)ctgfs	p.L641fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	641					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTGCATCCAGGGGGCCCCCC	0.512											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1921-1923)tgfs		nucleolar protein 6 (RNA-associated)							206.0	225.0	218.0					9																	33466939		2203	4300	6503	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466939delG	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1921delC	9.37:g.33466939delG	ENSP00000368784:p.Leu641fs		OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron	p.L641fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	15	2008	-			641					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.1921delC																																																																																					0.512	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		11	2754						11	2754	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091692	35091693	+	Frame_Shift_Ins	INS	-	-	G	rs148341577		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35091692_35091693insG	ENST00000378617.3	-	7	2585_2586	c.2191_2192insC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACCCGGAGACGGGGGGGAGCC	0.658																																						ENST00000378617.3																			1	Deletion - Frameshift(1)	p.R731fs*17(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2191-2193)tctfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091692_35091693insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2192dupC	9.37:g.35091699_35091699dupG	ENSP00000367880:p.Arg731fs					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.S731fs	p.S731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2585_2586	-			731					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2191_2192insC	CCDS6575.1																																																																																				0.658	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		11	1493						11	1493	---	---	---	---
ATP8B5P	158381	broad.mit.edu	37	9	35450410	35450411	+	RNA	INS	-	-	T	rs547771520	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35450410_35450411insT	ENST00000430846.1	+	0	3260_3261									ATPase, class I, type 8B, member 5, pseudogene																		TTGACTTGAGGTTTTTTTTTCC	0.342													?|TTTTTTTTT|TTTTTTTTTT|unsure	30	0.00599042	0.0015	0.0014	5008	,	,		17840	0.001		0.001	False		,,,				2504	0.0256					ENST00000430846.1																			0																																																			0							g.chr9:35450410_35450411insT			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450419_35450419dupT														0	3260_3261	+									RNA	INS	ENST00000430846.1	37																																																																																						0.342	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		9	503						9	503	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		8	312						8	312	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		7	51						7	51	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		7	309						7	309	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	315						8	315	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	468						8	468	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	467						7	467	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		19	1564						19	1564	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	446						7	446	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			11	541						11	541	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		13	1350						13	1350	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	793						7	793	---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:677579_677580insC	ENST00000248139.3	+	6	1006_1007	c.803_804insC	c.(802-807)agccccfs	p.SP268fs	RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000535977.1_Frame_Shift_Ins_p.SP268fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			1	Insertion - Frameshift(1)	p.Q271fs*7(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(802-804)accfs		RAB40C, member RAS oncogene family																																				SO:0001589	frameshift_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677579_677580insC	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.811dupC	16.37:g.677587_677587dupC	ENSP00000248139:p.Ser268fs					RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs	p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	1025_1026	+		Hepatocellular(780;0.0218)	268					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Ins	INS	ENST00000248139.3	37	c.803_804insC	CCDS10413.1																																																																																				0.678	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		9	347						9	347	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		13	1045						13	1045	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	372						7	372	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		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.V777V(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		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(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.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	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.chr16:72991713_72991715delCCA	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.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	336						7	336	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			8	845						8	845	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_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_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_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		8	120						8	120	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61345105	61345116	+	Splice_Site	DEL	TCAGCCACCAGC	TCAGCCACCAGC	-	rs576990196		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:61345105_61345116delTCAGCCACCAGC	ENST00000424789.2	+	7	815_823	c.811_819delTCAGCCACCAGC	c.(811-819)tcagccaccdel	p.SAT271del	TANC2_ENST00000389520.4_Splice_Site_p.SAT271del|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	271					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCTTTCTTGTCAGCCACCAGCTCTGCCCACT	0.448																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.e7-1		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2																																				SO:0001630	splice_region_variant	26115						binding	g.chr17:61345105_61345116delTCAGCCACCAGC	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.812-1TCAGCCACCAGC>-	17.37:g.61345105_61345116delTCAGCCACCAGC						TANC2_ENST00000389520.4_Splice_Site_p.271_splice|AC037445.1_ENST00000581421.1_RNA	p.271_splice	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			7	815_823	+			271					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Splice_Site	DEL	ENST00000424789.2	37	c.811_splice	CCDS45754.1																																																																																				0.448	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		In_Frame_Del	23	162						23	162	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	605						7	605	---	---	---	---
RETN	56729	broad.mit.edu	37	19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	684						7	684	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		14	201						14	201	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		10	1285						10	1285	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	526						7	526	---	---	---	---
RBCK1	10616	broad.mit.edu	37	20	400073	400074	+	Frame_Shift_Ins	INS	-	-	G	rs377036635		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr20:400073_400074insG	ENST00000356286.5	+	5	1248_1249	c.543_544insG	c.(544-546)ggafs	p.G182fs	RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.G140fs|RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.D66fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	182	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGGAACCCGGACGGGGGCA	0.668																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(541-546)ccgacgfs		RanBP-type and C3HC4-type zinc finger containing 1																																				SO:0001589	frameshift_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:400073_400074insG	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.545dupG	20.37:g.400075_400075dupG	ENSP00000348632:p.Gly182fs					RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.R65fs|RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.T140fs	p.T182fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			5	1248_1249	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	182			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Frame_Shift_Ins	INS	ENST00000356286.5	37	c.543_544insG	CCDS13000.2																																																																																				0.668	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		7	109						7	109	---	---	---	---
ZDHHC8	29801	broad.mit.edu	37	22	20132774	20132774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr22:20132774delC	ENST00000334554.7	+	11	2290	c.2149delC	c.(2149-2151)cccfs	p.P718fs	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P626fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	718					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCTGAAGACTCCCCCAAGTAA	0.637																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2149-2151)ccfs		zinc finger, DHHC-type containing 8							151.0	156.0	154.0					22																	20132774		2203	4300	6503	SO:0001589	frameshift_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132774delC	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2149delC	22.37:g.20132774delC	ENSP00000334490:p.Pro718fs					ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P626fs	p.P718fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			11	2290	+	Colorectal(54;0.0993)		718					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Del	DEL	ENST00000334554.7	37	c.2149delC	CCDS13776.1																																																																																				0.637	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		7	1154						7	1154	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		9	478						9	478	---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr22:41257115delT	ENST00000307221.4	-	1	1015	c.884delA	c.(883-885)aagfs	p.K296fs	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	296	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(883-885)agfs		DnaJ (Hsp40) homolog, subfamily B, member 7							105.0	100.0	102.0					22																	41257115		2203	4300	6503	SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257115delT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.884delA	22.37:g.41257115delT	ENSP00000307197:p.Lys296fs					XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	p.K296fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	1015	-			296			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Del	DEL	ENST00000307221.4	37	c.884delA	CCDS14008.1																																																																																				0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		8	467						8	467	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	767						8	767	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	448						10	448	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			11	321						11	321	---	---	---	---
