#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
VAT1L	57687	broad.mit.edu	37	16	77910292	77910292	+	Missense_Mutation	SNP	G	G	A	rs200966564		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:77910292G>A	ENST00000302536.2	+	5	901	c.748G>A	c.(748-750)Gtt>Att	p.V250I	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	250							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGTGGACATCGTTTTGGATTG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19110	0.0		0.0	False		,,,				2504	0.0					ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(748-750)Gtt>Att		vesicle amine transport 1-like							214.0	191.0	199.0					16																	77910292		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77910292G>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.748G>A	16.37:g.77910292G>A	ENSP00000303129:p.Val250Ile					VAT1L_ENST00000563850.1_3'UTR	p.V250I	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			5	901	+			250					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.748G>A	CCDS32492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.508695	0.85282	.	.	ENSG00000171724	ENST00000302536	T	0.33865	1.39	5.4	5.4	0.78164	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.48986	1.54	0.80722	D	1	P	0.52170	0.951	B	0.40134	0.32	T	0.25257	-1.0137	10	0.02654	T	1	-20.162	19.1297	0.93400	0.0:0.0:1.0:0.0	.	250	Q9HCJ6	VAT1L_HUMAN	I	250	ENSP00000303129:V250I	ENSP00000303129:V250I	V	+	1	0	VAT1L	76467793	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	9.407000	0.97325	2.675000	0.91044	0.655000	0.94253	GTT		0.473	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		9	496	0	0	0	1	0	9	496				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	465	0	0	0	1	0	6	465				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_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		24	172	0	0	0	1	0	24	172				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	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	73	0	0	0	1	0	4	73				
PPARD	5467	broad.mit.edu	37	6	35391924	35391924	+	Splice_Site	SNP	C	C	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:35391924C>A	ENST00000311565.4	+	7	975	c.626C>A	c.(625-627)gCg>gAg	p.A209E	PPARD_ENST00000360694.3_Splice_Site_p.A209E|PPARD_ENST00000448077.2_Splice_Site_p.A170E|PPARD_ENST00000444397.1_Splice_Site_p.A209E|PPARD_ENST00000337400.2_Splice_Site_p.A209E|PPARD_ENST00000418635.2_Splice_Site_p.A111E|PPARD_ENST00000540939.1_Splice_Site_p.A106E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	209					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGCCACACGGCGGTGAGTGTT	0.597																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e7+1		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						35.0	34.0	35.0					6																	35391924		2203	4300	6503	SO:0001630	splice_region_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35391924C>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.627+1C>A	6.37:g.35391924C>A						PPARD_ENST00000337400.2_Splice_Site_p.A209_splice|PPARD_ENST00000448077.2_Splice_Site_p.A170_splice|PPARD_ENST00000418635.2_Splice_Site_p.A111_splice|PPARD_ENST00000444397.1_Splice_Site_p.A209_splice|PPARD_ENST00000360694.3_Splice_Site_p.A209_splice|PPARD_ENST00000540939.1_Splice_Site_p.A106_splice	p.A209_splice	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			7	975	+			209					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Splice_Site	SNP	ENST00000311565.4	37	c.627_splice	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704184	0.68615	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.58	5.58	0.84498	Nuclear hormone receptor, ligand-binding (1);	0.359711	0.29987	N	0.010699	T	0.33673	0.0871	L	0.27053	0.805	0.58432	D	0.999995	P;P;P;P	0.39311	0.667;0.53;0.667;0.573	B;B;B;B	0.26693	0.072;0.032;0.072;0.051	T	0.43376	-0.9395	10	0.10377	T	0.69	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	111;170;209;209	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	E	170;209;111;209;209;209;106	ENSP00000414372:A170E;ENSP00000353916:A209E;ENSP00000413314:A111E;ENSP00000410837:A209E;ENSP00000310928:A209E;ENSP00000337063:A209E;ENSP00000443759:A106E	ENSP00000310928:A209E	A	+	2	0	PPARD	35499902	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	6.967000	0.76079	2.650000	0.89964	0.591000	0.81541	GCG		0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	Missense_Mutation	4	137	1	0	0.00909568	1	0.00920396	4	137				
WDR78	79819	broad.mit.edu	37	1	67279820	67279820	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:67279820G>A	ENST00000371026.3	-	17	2595	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	WDR78_ENST00000431318.1_Missense_Mutation_p.S560L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	847					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GAATTATGCTGATTGGTTTGA	0.279																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(2539-2541)tCa>tTa		WD repeat domain 78							48.0	51.0	50.0					1																	67279820		2202	4280	6482	SO:0001583	missense	79819							g.chr1:67279820G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2540C>T	1.37:g.67279820G>A	ENSP00000360065:p.Ser847Leu					WDR78_ENST00000431318.1_Missense_Mutation_p.S560L	p.S847L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			17	2595	-			847					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.2540C>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	4.759	0.141129	0.09083	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67171	0.32;-0.25;-0.25	3.71	0.529	0.17095	.	2.548910	0.01224	N	0.008168	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.11329	0.006;0.003	T	0.10989	-1.0606	10	0.42905	T	0.14	0.159	4.4702	0.11708	0.1105:0.0:0.5018:0.3877	.	560;847	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	L	847;560;580	ENSP00000360065:S847L;ENSP00000393182:S560L;ENSP00000433682:S580L	ENSP00000360065:S847L	S	-	2	0	WDR78	67052408	0.165000	0.22948	0.158000	0.22627	0.038000	0.13279	0.455000	0.21843	0.126000	0.18424	0.643000	0.83706	TCA		0.279	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		20	187	0	0	0	1	0	20	187				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	116	0	0	0	1	0	5	116				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	13	0	0	0	1	0	4	13				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		10	1127	0	0	0	1	0	10	1127				
ITPR3	3710	broad.mit.edu	37	6	33639826	33639826	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:33639826A>G	ENST00000374316.5	+	23	3809	c.2749A>G	c.(2749-2751)Atc>Gtc	p.I917V	ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	917					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCGGCGGTCCATCCAGGGCGT	0.637																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2749-2751)Atc>Gtc		inositol 1,4,5-trisphosphate receptor, type 3							79.0	72.0	75.0					6																	33639826		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33639826A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2749A>G	6.37:g.33639826A>G	ENSP00000363435:p.Ile917Val					ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V	p.I917V			Q14573	ITPR3_HUMAN			23	3809	+			917					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2749A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012952	0.75161	.	.	ENSG00000096433	ENST00000374316	D	0.91631	-2.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.61703	1.905	0.58432	D	0.999996	P	0.39326	0.668	B	0.40228	0.323	D	0.88114	0.2827	10	0.36615	T	0.2	-37.5928	15.5417	0.76057	1.0:0.0:0.0:0.0	.	917	Q14573	ITPR3_HUMAN	V	917	ENSP00000363435:I917V	ENSP00000363435:I917V	I	+	1	0	ITPR3	33747804	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.962000	0.93254	2.072000	0.62099	0.533000	0.62120	ATC		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		24	183	0	0	0	1	0	24	183				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	461	0	0	0	1	0	7	461				
PRC1	9055	broad.mit.edu	37	15	91517846	91517846	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr15:91517846C>T	ENST00000361188.5	-	10	2530	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	Y_RNA_ENST00000363272.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTCTCCAATCGATGCATCTC	0.443																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1318-1320)cGa>cAa		protein regulator of cytokinesis 1							372.0	335.0	347.0					15																	91517846		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517846C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1319G>A	15.37:g.91517846C>T	ENSP00000354679:p.Arg440Gln					PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q	p.R440Q			O43663	PRC1_HUMAN			10	2530	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		440			Spectrin-fold.			Missense_Mutation	SNP	ENST00000361188.5	37	c.1319G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792465	0.50102	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.64	2.79	0.32731	.	0.323197	0.33477	N	0.004866	T	0.23766	0.0575	L	0.33485	1.01	0.32416	N	0.550029	B;B;B;B	0.20887	0.009;0.009;0.006;0.049	B;B;B;B	0.18561	0.007;0.007;0.022;0.013	T	0.17623	-1.0363	10	0.30854	T	0.27	.	7.2242	0.26005	0.0:0.5634:0.0:0.4366	.	399;440;410;440	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	440;440;440;43;399	ENSP00000377793:R440Q;ENSP00000354618:R440Q;ENSP00000354679:R440Q;ENSP00000409549:R399Q	ENSP00000354679:R440Q	R	-	2	0	PRC1	89318850	0.010000	0.17322	0.163000	0.22734	0.980000	0.70556	0.194000	0.17135	0.495000	0.27882	0.650000	0.86243	CGA		0.443	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		15	736	0	0	0	1	0	15	736				
TMEM132E	124842	broad.mit.edu	37	17	32953994	32953994	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:32953994G>A	ENST00000321639.5	+	3	974	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	216						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCAAGCCCGGGGAAGTGCT	0.652																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(646-648)Ggg>Agg		transmembrane protein 132E							63.0	61.0	62.0					17																	32953994		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32953994G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.646G>A	17.37:g.32953994G>A	ENSP00000316532:p.Gly216Arg						p.G216R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	3	974	+			216					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.646G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961826	0.74016	.	.	ENSG00000181291	ENST00000321639	T	0.24908	1.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.64404	1.975	0.58432	D	0.999995	D	0.54772	0.968	B	0.42798	0.398	T	0.10753	-1.0616	10	0.42905	T	0.14	-38.6309	18.0519	0.89351	0.0:0.0:1.0:0.0	.	216	Q6IEE7	T132E_HUMAN	R	216	ENSP00000316532:G216R	ENSP00000316532:G216R	G	+	1	0	TMEM132E	29978107	1.000000	0.71417	0.925000	0.36789	0.992000	0.81027	7.804000	0.85993	2.484000	0.83849	0.442000	0.29010	GGG		0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		40	272	0	0	0	1	0	40	272				
LYSMD3	116068	broad.mit.edu	37	5	89814997	89814997	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr5:89814997G>A	ENST00000315948.6	-	3	704	c.560C>T	c.(559-561)tCg>tTg	p.S187L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	187						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGTTAAGGCCGATACTACCTC	0.413																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(559-561)tCg>tTg		LysM, putative peptidoglycan-binding, domain containing 3							213.0	203.0	206.0					5																	89814997		1884	4116	6000	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814997G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.560C>T	5.37:g.89814997G>A	ENSP00000314518:p.Ser187Leu					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	p.S187L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	704	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	187					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.560C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273371	0.80580	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16597	2.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04737	-1.0930	10	0.27082	T	0.32	-9.2471	19.8807	0.96899	0.0:0.0:1.0:0.0	.	187	Q7Z3D4	LYSM3_HUMAN	L	187	ENSP00000314518:S187L	ENSP00000314518:S187L	S	-	2	0	AC027323.1;LYSMD3	89850753	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	9.444000	0.97578	2.692000	0.91855	0.591000	0.81541	TCG		0.413	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		59	409	0	0	0	1	0	59	409				
HECW2	57520	broad.mit.edu	37	2	197189711	197189711	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:197189711T>C	ENST00000260983.3	-	6	916	c.734A>G	c.(733-735)cAc>cGc	p.H245R	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	245	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACCTCTCGGTGCCAAATTGG	0.512																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(733-735)cAc>cGc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							219.0	197.0	205.0					2																	197189711		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197189711T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.734A>G	2.37:g.197189711T>C	ENSP00000260983:p.His245Arg					HECW2_ENST00000409111.1_5'UTR	p.H245R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			6	916	-			245			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.734A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484512	0.84854	.	.	ENSG00000138411	ENST00000260983	T	0.40756	1.02	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.104523	0.64402	D	0.000004	T	0.36166	0.0957	L	0.41236	1.265	0.58432	D	0.999991	P	0.45176	0.852	B	0.39217	0.294	T	0.31752	-0.9932	10	0.59425	D	0.04	.	15.2329	0.73404	0.0:0.0:0.0:1.0	.	245	Q9P2P5	HECW2_HUMAN	R	245	ENSP00000260983:H245R	ENSP00000260983:H245R	H	-	2	0	HECW2	196897956	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.733000	0.68571	2.180000	0.69256	0.533000	0.62120	CAC		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		66	518	0	0	0	1	0	66	518				
ADCY9	115	broad.mit.edu	37	16	4016226	4016226	+	Silent	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:4016226G>A	ENST00000294016.3	-	11	4150	c.3612C>T	c.(3610-3612)tgC>tgT	p.C1204C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1204					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTGGATGCGGCACTCCACGC	0.602																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3610-3612)tgC>tgT		adenylate cyclase 9							152.0	132.0	139.0					16																	4016226		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016226G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3612C>T	16.37:g.4016226G>A							p.C1204C	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4150	-			1204					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3612C>T	CCDS32382.1																																																																																				0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	450	0	0	0	1	0	7	450				
RAB38	23682	broad.mit.edu	37	11	87847185	87847185	+	Missense_Mutation	SNP	C	C	A	rs566900313	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:87847185C>A	ENST00000243662.6	-	3	689	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	203					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGCAGCTGGCAACCTTGGTT	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.0031					ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(607-609)Gcc>Tcc		RAB38, member RAS oncogene family							138.0	129.0	132.0					11																	87847185		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847185C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.607G>T	11.37:g.87847185C>A	ENSP00000243662:p.Ala203Ser					RP11-164N3.3_ENST00000528458.1_RNA	p.A203S	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			3	689	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	203					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.607G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.224|0.224	-1.026095|-1.026095	0.02045|0.02045	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.70045|.	-0.45|.	5.47|5.47	1.27|1.27	0.21489|0.21489	.|.	0.584107|.	0.17889|.	N|.	0.158598|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.22452|0.22452	-1.0216|-1.0216	9|5	.|.	.|.	.|.	-27.5375|-27.5375	3.3463|3.3463	0.07136|0.07136	0.1416:0.5596:0.1377:0.1612|0.1416:0.5596:0.1377:0.1612	.|.	203|.	P57729|.	RAB38_HUMAN|.	S|F	203|201	ENSP00000243662:A203S|.	.|.	A|C	-|-	1|2	0|0	RAB38|RAB38	87486833|87486833	0.012000|0.012000	0.17670|0.17670	0.559000|0.559000	0.28332|0.28332	0.101000|0.101000	0.19017|0.19017	0.095000|0.095000	0.15127|0.15127	0.766000|0.766000	0.33244|0.33244	-0.157000|-0.157000	0.13467|0.13467	GCC|TGC		0.483	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			5	466	1	0	0.184627	1	0.184627	5	466				
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(781-783)Cgt>Tgt		olfactory receptor, family 6, subfamily T, member 1							202.0	171.0	182.0					11																	123813765		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813765G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.781C>T	11.37:g.123813765G>A	ENSP00000325203:p.Arg261Cys						p.R261C	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	815	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	261					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.781C>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036985	0.19669	.	.	ENSG00000181499	ENST00000321252	T	0.35789	1.29	3.39	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51160	0.1658	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36696	-0.9737	9	0.87932	D	0	-19.2553	3.5334	0.07785	0.3556:0.1954:0.449:0.0	.	261	Q8NGN1	OR6T1_HUMAN	C	261	ENSP00000325203:R261C	ENSP00000325203:R261C	R	-	1	0	OR6T1	123318975	0.000000	0.05858	0.006000	0.13384	0.169000	0.22640	-0.190000	0.09615	-0.114000	0.11936	0.563000	0.77884	CGT		0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		16	419	0	0	0	1	0	16	419				
PCDHA4	56144	broad.mit.edu	37	5	140188274	140188274	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr5:140188274A>G	ENST00000530339.1	+	1	1502	c.1502A>G	c.(1501-1503)gAg>gGg	p.E501G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E501G|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E501G	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTAGGGGAGCGCGCGCTG	0.662																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1501-1503)gAg>gGg									50.0	52.0	52.0					5																	140188274		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188274A>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1502A>G	5.37:g.140188274A>G	ENSP00000435300:p.Glu501Gly					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E501G|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E501G|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E501G	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1502	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1502A>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	0.011	-1.711301	0.00712	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.60672	0.17;0.17;0.17	4.18	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002920	T	0.29093	0.0723	N	0.03253	-0.375	0.21604	N	0.999629	P;B;B	0.39376	0.67;0.007;0.029	B;B;B	0.41236	0.351;0.03;0.143	T	0.08289	-1.0729	10	0.22109	T	0.4	.	3.7074	0.08405	0.6158:0.1987:0.1855:0.0	.	501;501;501	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	501	ENSP00000423470:E501G;ENSP00000349344:E501G;ENSP00000435300:E501G	ENSP00000349344:E501G	E	+	2	0	PCDHA4	140168458	0.000000	0.05858	0.999000	0.59377	0.330000	0.28571	-0.467000	0.06664	0.583000	0.29574	-0.461000	0.05368	GAG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	311	0	0	0	1	0	7	311				
IKZF4	64375	broad.mit.edu	37	12	56420631	56420631	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:56420631G>A	ENST00000262032.5	+	8	720	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q|IKZF4_ENST00000548601.1_3'UTR|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	118					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAGATGAGCGGCTCCTGGAA	0.572																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(352-354)cGg>cAg		IKAROS family zinc finger 4 (Eos)							48.0	53.0	52.0					12																	56420631		2123	4243	6366	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56420631G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.353G>A	12.37:g.56420631G>A	ENSP00000262032:p.Arg118Gln					IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q	p.R118Q			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	720	+			118					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.353G>A	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513158	0.96402	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.08282	3.13;3.14;3.13;3.11	5.08	5.08	0.68730	.	0.000000	0.44688	D	0.000438	T	0.18635	0.0447	L	0.42245	1.32	0.58432	D	0.999998	P;D;P;D	0.76494	0.893;0.998;0.787;0.999	B;P;B;P	0.59761	0.148;0.863;0.103;0.733	T	0.00675	-1.1615	10	0.32370	T	0.25	-10.7923	17.3946	0.87441	0.0:0.0:1.0:0.0	.	16;73;77;118	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	118;16;118;73	ENSP00000262032:R118Q;ENSP00000412101:R16Q;ENSP00000448419:R118Q;ENSP00000450020:R73Q	ENSP00000262032:R118Q	R	+	2	0	IKZF4	54706898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.478000	0.73596	2.633000	0.89246	0.561000	0.74099	CGG		0.572	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		7	178	0	0	0	1	0	7	178				
TRBV7-1	28597	broad.mit.edu	37	7	142032047	142032047	+	RNA	SNP	A	A	C	rs533753018	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:142032047A>C	ENST00000547918.2	+	0	42									T cell receptor beta variable 7-1 (non-functional)																		CCATGGGCACAAGGCTCCTCT	0.562																																						ENST00000547918.2																			0																																																			0							g.chr7:142032047A>C	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032047A>C														0	42	+									RNA	SNP	ENST00000547918.2	37																																																																																						0.562	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		4	163	0	0	0	1	0	4	163				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	49	0	0	0	1	0	4	49				
PLEC	5339	broad.mit.edu	37	8	144992109	144992109	+	Silent	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:144992109G>A	ENST00000322810.4	-	32	12460	c.12291C>T	c.(12289-12291)ccC>ccT	p.P4097P	PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000398774.2_Silent_p.P3928P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354589.3_Silent_p.P3960P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4097	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCTGTGCCGGGGCGGATGA	0.627																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12289-12291)ccC>ccT		plectin							28.0	34.0	32.0					8																	144992109		2110	4223	6333	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992109G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12291C>T	8.37:g.144992109G>A						PLEC_ENST00000398774.2_Silent_p.P3928P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000354589.3_Silent_p.P3960P	p.P4097P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12460	-			4097			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12291C>T	CCDS43772.1																																																																																				0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	113	0	0	0	1	0	12	113				
LTA4H	4048	broad.mit.edu	37	12	96412615	96412615	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:96412615A>C	ENST00000228740.2	-	8	919	c.778T>G	c.(778-780)Ttg>Gtg	p.L260V	LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V|LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	260					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GGCAGGACCAATAGGTCATAC	0.403																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(778-780)Ttg>Gtg		leukotriene A4 hydrolase							82.0	75.0	77.0					12																	96412615		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412615A>C	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.778T>G	12.37:g.96412615A>C	ENSP00000228740:p.Leu260Val					LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V|LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V	p.L260V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			8	919	-			260					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.778T>G	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966327	0.53507	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.01933	4.55;4.55;4.55	5.29	-2.74	0.05932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.49571	1.57	0.41510	D	0.988339	P;P;P	0.51933	0.788;0.949;0.935	P;P;P	0.50617	0.514;0.514;0.646	T	0.16512	-1.0400	10	0.33940	T	0.23	-11.7535	14.3716	0.66843	0.4175:0.0:0.5825:0.0	.	236;236;260	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	V	260;236;236	ENSP00000228740:L260V;ENSP00000449958:L236V;ENSP00000395051:L236V	ENSP00000228740:L260V	L	-	1	2	LTA4H	94936746	0.650000	0.27331	0.030000	0.17652	0.921000	0.55340	1.115000	0.31209	-0.393000	0.07739	-0.353000	0.07706	TTG		0.403	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		32	217	0	0	0	1	0	32	217				
BCL9L	283149	broad.mit.edu	37	11	118773097	118773097	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:118773097T>G	ENST00000334801.3	-	6	2319	c.1355A>C	c.(1354-1356)cAg>cCg	p.Q452P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	452	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGTGGCTGCTGGGGGGGAGG	0.682																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1354-1356)cAg>cCg		B-cell CLL/lymphoma 9-like							13.0	18.0	16.0					11																	118773097		1625	3496	5121	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773097T>G	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1355A>C	11.37:g.118773097T>G	ENSP00000335320:p.Gln452Pro					BCL9L_ENST00000526143.1_5'UTR	p.Q452P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2319	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	452			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1355A>C	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	0.926	-0.714340	0.03206	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.78364	-1.17	4.76	1.0	0.19881	.	0.570758	0.14556	N	0.312365	T	0.59348	0.2187	N	0.22421	0.69	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38457	-0.9660	10	0.16896	T	0.51	-9.3366	7.9199	0.29839	0.0:0.0858:0.5422:0.372	.	447;452	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	P	452;415;452;452	ENSP00000335320:Q452P	ENSP00000335320:Q452P	Q	-	2	0	BCL9L	118278307	0.997000	0.39634	0.711000	0.30485	0.348000	0.29142	1.645000	0.37238	0.007000	0.14760	0.254000	0.18369	CAG		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	85	0	0	0	1	0	7	85				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	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			4	102	0	0	0	1	0	4	102				
DNAH11	8701	broad.mit.edu	37	7	21805150	21805150	+	Silent	SNP	G	G	A	rs200558824		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:21805150G>A	ENST00000409508.3	+	55	9076	c.9045G>A	c.(9043-9045)ccG>ccA	p.P3015P	DNAH11_ENST00000328843.6_Silent_p.P3022P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3022	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCGTGGCCGCAGGAGGCTC	0.532									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9064-9066)ccG>ccA		dynein, axonemal, heavy chain 11							91.0	92.0	92.0					7																	21805150		2053	4198	6251	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21805150G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9045G>A	7.37:g.21805150G>A						DNAH11_ENST00000409508.3_Silent_p.P3015P	p.P3022P			Q96DT5	DYH11_HUMAN			56	9097	+			3022			AAA 4 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9066G>A																																																																																					0.532	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	287	0	0	0	1	0	5	287				
TBP	6908	broad.mit.edu	37	6	170871094	170871094	+	Silent	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	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	0.622																																						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.(268-270)caG>caA		TATA box binding protein							22.0	28.0	26.0					6																	170871094		1899	3721	5620	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.chr6:170871094G>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.270G>A	6.37:g.170871094G>A						TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	p.Q90Q	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	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	130	0	0	0	1	0	4	130				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	625	0	0	0	1	0	5	625				
MOG	4340	broad.mit.edu	37	6	29641216	29641216	+	IGR	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:29641216C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000376883.1_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCCAAGATGCATGCGTCTGT	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(610-612)atG>atA		ZFP57 zinc finger protein							89.0	101.0	97.0					6																	29641216		1363	2608	3971	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641216C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641216C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I|ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I	p.M204I			Q9NU63	ZFP57_HUMAN			6	1023	-			140					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.612G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792387	0.00623	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.16743	2.32;2.32;2.32	4.4	0.484	0.16825	.	0.954223	0.08666	N	0.911597	T	0.00936	0.0031	N	0.01015	-1.05	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47522	-0.9111	10	0.02654	T	1	-0.2227	4.108	0.10045	0.0:0.3668:0.3379:0.2953	.	224;204	Q9NU63-3;Q9NU63-2	.;.	I	224;204;204	ENSP00000418259:M224I;ENSP00000366078:M204I;ENSP00000366080:M204I	ENSP00000366078:M204I	M	-	3	0	ZFP57	29749195	0.000000	0.05858	0.044000	0.18714	0.048000	0.14542	-1.245000	0.02899	0.206000	0.20587	0.650000	0.86243	ATG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		5	319	0	0	0	1	0	5	319				
ADAM23	8745	broad.mit.edu	37	2	207345998	207345998	+	Missense_Mutation	SNP	G	G	A	rs146209053	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:207345998G>A	ENST00000264377.3	+	3	803	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S|ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	159					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGAAGCCTTCGGCTCCAAATT	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16245	0.0		0.0	False		,,,				2504	0.0				Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(475-477)Ggc>Agc		ADAM metallopeptidase domain 23		G	SER/GLY	17,4389	24.3+/-50.5	0,17,2186	60.0	61.0	61.0		475	5.0	1.0	2	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ADAM23	NM_003812.2	56	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign	159/833	207345998	17,12989	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207345998G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.475G>A	2.37:g.207345998G>A	ENSP00000264377:p.Gly159Ser					ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S|ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S	p.G159S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	3	803	+			159					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.475G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887047	0.72410	0.003858	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.16324	2.35;2.35;2.35	5.04	5.04	0.67666	Peptidase M12B, propeptide (1);	0.000000	0.56097	D	0.000038	T	0.34135	0.0887	M	0.78916	2.43	0.58432	D	0.999999	P	0.50156	0.932	P	0.49953	0.627	T	0.14337	-1.0476	10	0.51188	T	0.08	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	159	O75077	ADA23_HUMAN	S	159;159;53;159	ENSP00000264377:G159S;ENSP00000363537:G159S;ENSP00000363536:G159S	ENSP00000264377:G159S	G	+	1	0	ADAM23	207054243	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	4.933000	0.63484	2.492000	0.84095	0.650000	0.86243	GGC		0.383	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		38	200	0	0	0	1	0	38	200				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	321	0	0	0	1	0	5	321				
FAM27L	284123	broad.mit.edu	37	17	21826294	21826294	+	lincRNA	SNP	T	T	A	rs187955439	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:21826294T>A	ENST00000426869.3	+	0	477					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CATGGTGGCCTCTCTGAACAA	0.572													T|||	6	0.00119808	0.0	0.0086	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0					ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							63.0	67.0	66.0					17																	21826294		2019	4177	6196			284123							g.chr17:21826294T>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826294T>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	477	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.572	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		14	114	0	0	0	1	0	14	114				
RNF213	57674	broad.mit.edu	37	17	78321495	78321495	+	Silent	SNP	C	C	T	rs142096377		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:78321495C>T	ENST00000582970.1	+	29	9503	c.9360C>T	c.(9358-9360)taC>taT	p.Y3120Y	RNF213_ENST00000336301.6_Silent_p.Y1193Y|RNF213_ENST00000508628.2_Silent_p.Y3169Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3120					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCAGTACTACGTCCACCTCG	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9358-9360)taC>taT		ring finger protein 213		C		0,4406		0,0,2203	79.0	79.0	79.0		9507	-0.7	1.0	17	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3169/5257	78321495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321495C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9360C>T	17.37:g.78321495C>T						RNF213_ENST00000336301.6_Silent_p.Y1193Y|RNF213_ENST00000508628.2_Silent_p.Y3169Y	p.Y3120Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9503	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.9360C>T	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		38	286	0	0	0	1	0	38	286				
IL18R1	8809	broad.mit.edu	37	2	103001403	103001403	+	Missense_Mutation	SNP	G	G	A	rs374788069		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:103001403G>A	ENST00000409599.1	+	8	1110	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	IL18R1_ENST00000233957.1_Missense_Mutation_p.G252R			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	252	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGATGTTCGGGGAAGAAAA	0.328																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(754-756)Ggg>Agg		interleukin 18 receptor 1		G	ARG/GLY	0,4406		0,0,2203	106.0	110.0	109.0		754	-8.2	0.0	2		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL18R1	NM_003855.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	252/542	103001403	1,13005	2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103001403G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.754G>A	2.37:g.103001403G>A	ENSP00000387211:p.Gly252Arg					IL18R1_ENST00000233957.1_Missense_Mutation_p.G252R	p.G252R			Q13478	IL18R_HUMAN			8	1110	+			252			Ig-like C2-type 3.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.754G>A	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473687	0.04414	0.0	1.16E-4	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01613	4.73;4.73;4.73	4.09	-8.18	0.01053	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.796540	0.00166	N	0.000014	T	0.00695	0.0023	N	0.02539	-0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.49082	-0.8976	10	0.13470	T	0.59	.	1.564	0.02601	0.4484:0.2648:0.1316:0.1551	.	252;252	B7ZKV7;Q13478	.;IL18R_HUMAN	R	252	ENSP00000386663:G252R;ENSP00000387211:G252R;ENSP00000233957:G252R	ENSP00000233957:G252R	G	+	1	0	IL18R1	102367835	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.731000	0.00381	-1.775000	0.01287	-0.362000	0.07510	GGG		0.328	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		5	400	0	0	0	1	0	5	400				
USP25	29761	broad.mit.edu	37	21	17205843	17205843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr21:17205843G>T	ENST00000285679.6	+	17	2539	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*|USP25_ENST00000285681.2_Nonsense_Mutation_p.E724*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	724					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAATTGAGAGAGTCAGAGAC	0.333																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2170-2172)Gag>Tag		ubiquitin specific peptidase 25							44.0	46.0	45.0					21																	17205843		2203	4300	6503	SO:0001587	stop_gained	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17205843G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2170G>T	21.37:g.17205843G>T	ENSP00000285679:p.Glu724*					USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.E724*	p.E724*			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	17	2539	+			724					C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	37	c.2170G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.346853	0.98228	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	.	.	.	5.24	5.24	0.73138	.	0.358668	0.31134	N	0.008185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.7667	0.69646	0.0:0.1443:0.8557:0.0	.	.	.	.	X	724	.	ENSP00000285679:E724X	E	+	1	0	USP25	16127714	1.000000	0.71417	0.570000	0.28473	0.835000	0.47333	2.944000	0.49034	2.615000	0.88500	0.591000	0.81541	GAG		0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			28	167	1	0	1.39806e-14	1	1.48543e-14	28	167				
ARMC3	219681	broad.mit.edu	37	10	23297251	23297251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:23297251C>T	ENST00000298032.5	+	15	1960	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	626			R -> Q (in dbSNP:rs10828395). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGTTATGGACGAAGTATTTC	0.279																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1876-1878)Cga>Tga		armadillo repeat containing 3							35.0	32.0	33.0					10																	23297251		2191	4269	6460	SO:0001587	stop_gained	219681						binding	g.chr10:23297251C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1876C>T	10.37:g.23297251C>T	ENSP00000298032:p.Arg626*					ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626*	p.R626*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			15	1960	+			626		R -> Q (in dbSNP:rs10828395).			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	c.1876C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	c	37	6.353931	0.97498	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	.	.	.	5.56	3.7	0.42460	.	1.341930	0.04522	N	0.384715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-12.0527	7.0747	0.25197	0.1702:0.7422:0.0:0.0875	.	.	.	.	X	626;626;626;363	.	ENSP00000298032:R626X	R	+	1	2	ARMC3	23337257	0.922000	0.31269	0.988000	0.46212	0.855000	0.48748	0.118000	0.15605	0.688000	0.31529	0.563000	0.77884	CGA		0.279	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		8	135	0	0	0	1	0	8	135				
TPTE2	93492	broad.mit.edu	37	13	19999089	19999089	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr13:19999089G>C	ENST00000400230.2	-	19	1508	c.1464C>G	c.(1462-1464)aaC>aaG	p.N488K	TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K|TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	488	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTCATACCTGTTATTTTGAA	0.284																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1462-1464)aaC>aaG		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50.0	50.0	50.0					13																	19999089		2156	4285	6441	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:19999089G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1464C>G	13.37:g.19999089G>C	ENSP00000383089:p.Asn488Lys					TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K	p.N488K			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	19	1508	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	488			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1464C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	4.566	0.105142	0.08731	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.17	1.31	0.21738	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174919	0.48286	U	0.000185	T	0.80065	0.4555	L	0.52266	1.64	0.38754	D	0.954181	B;B;B	0.32324	0.117;0.216;0.364	B;B;B	0.39465	0.145;0.155;0.3	T	0.72001	-0.4422	9	.	.	.	-8.723	6.8494	0.24006	0.1572:0.0:0.8428:0.0	.	377;411;488	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	448;377;488;411;411;488;448;377	ENSP00000372438:N448K;ENSP00000382974:N377K;ENSP00000383089:N488K;ENSP00000255310:N411K;ENSP00000375098:N411K;ENSP00000372437:N488K;ENSP00000372435:N448K;ENSP00000442218:N377K	.	N	-	3	2	TPTE2	18897089	1.000000	0.71417	0.646000	0.29493	0.352000	0.29268	4.366000	0.59492	0.469000	0.27268	0.194000	0.17425	AAC		0.284	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	84	0	0	0	1	0	9	84				
SLC43A2	124935	broad.mit.edu	37	17	1489346	1489346	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:1489346C>T	ENST00000301335.5	-	10	1167		c.e10-1		SLC43A2_ENST00000412517.3_Splice_Site|SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000382147.4_Missense_Mutation_p.V364I	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TAGAGGCCAACTGTGGAGGAA	0.642																																						ENST00000382147.4																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1090-1092)Gtt>Att		solute carrier family 43 (amino acid system L transporter), member 2							20.0	14.0	16.0					17																	1489346		2201	4294	6495	SO:0001630	splice_region_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1489346C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1079-1G>A	17.37:g.1489346C>T						SLC43A2_ENST00000412517.3_Splice_Site|SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000301335.4_Splice_Site	p.V364I			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	10	1178	-			360					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1090G>A	CCDS11006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160652|4.160652	0.78226|0.78226	.|.	.|.	ENSG00000167703|ENSG00000167703	ENST00000301335;ENST00000412517|ENST00000382147	.|T	.|0.80480	.|-1.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87748	.|0.6255	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86025	.|0.1509	.|6	.|.	.|.	.|.	.|.	19.2052|19.2052	0.93728|0.93728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|364	.|ENSP00000371582:V364I	.|.	.|V	-|-	.|1	.|0	SLC43A2|SLC43A2	1436096|1436096	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.628000|0.628000	0.37860|0.37860	7.776000|7.776000	0.85560|0.85560	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	.|GTT		0.642	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346	Intron	3	13	0	0	0	1	0	3	13				
SNAPC2	6618	broad.mit.edu	37	19	7986996	7986996	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:7986996A>G	ENST00000221573.6	+	4	500	c.449A>G	c.(448-450)aAg>aGg	p.K150R	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR|CTD-3193O13.1_ENST00000564226.1_RNA	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	150					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GCCCGTGGAAAGCCTTTGCTC	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(448-450)aAg>aGg		small nuclear RNA activating complex, polypeptide 2, 45kDa							96.0	108.0	104.0					19																	7986996		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986996A>G	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.449A>G	19.37:g.7986996A>G	ENSP00000221573:p.Lys150Arg					SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	p.K150R	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	500	+			150					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.449A>G	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	a	10.51	1.370689	0.24771	.	.	ENSG00000104976	ENST00000221573	T	0.56275	0.47	4.33	-0.489	0.12052	.	0.299670	0.24150	N	0.041085	T	0.35885	0.0947	L	0.37561	1.115	0.09310	N	1	B	0.25235	0.121	B	0.26416	0.069	T	0.17992	-1.0351	10	0.29301	T	0.29	-17.8988	7.2806	0.26310	0.5075:0.0:0.4925:0.0	.	150	Q13487	SNPC2_HUMAN	R	150	ENSP00000221573:K150R	ENSP00000221573:K150R	K	+	2	0	SNAPC2	7892996	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.711000	0.25764	-0.049000	0.13379	0.449000	0.29647	AAG		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		59	520	0	0	0	1	0	59	520				
RIMBP2	23504	broad.mit.edu	37	12	130923012	130923012	+	Silent	SNP	G	G	A	rs144010117	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:130923012G>A	ENST00000261655.4	-	9	1666	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	RIMBP2_ENST00000535703.1_Silent_p.P409P|RIMBP2_ENST00000536002.1_Silent_p.P409P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	501	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGATGGTGGCGGGGGTCACCC	0.662																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1501-1503)ccC>ccT		RIMS binding protein 2		G		1,4403	2.1+/-5.4	0,1,2201	32.0	30.0	31.0		1503	-10.0	0.0	12	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RIMBP2	NM_015347.4		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		501/1053	130923012	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130923012G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1503C>T	12.37:g.130923012G>A						RIMBP2_ENST00000536002.1_Silent_p.P409P|RIMBP2_ENST00000535703.1_Silent_p.P409P	p.P501P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	1666	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	501			Fibronectin type-III 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1503C>T	CCDS31925.1																																																																																				0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		11	75	0	0	0	1	0	11	75				
GPA33	10223	broad.mit.edu	37	1	167023589	167023589	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167023589C>T	ENST00000367868.3	-	7	1285	c.942G>A	c.(940-942)ccG>ccA	p.P314P	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	314						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAGGTGGTCCGGGGATTCAC	0.597																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(940-942)ccG>ccA		glycoprotein A33 (transmembrane)							169.0	122.0	138.0					1																	167023589		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167023589C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.942G>A	1.37:g.167023589C>T						RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.P314P	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			7	1285	-			314					Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.942G>A	CCDS1258.1																																																																																				0.597	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		5	290	0	0	0	1	0	5	290				
TRIOBP	11078	broad.mit.edu	37	22	38120707	38120707	+	Missense_Mutation	SNP	C	C	T	rs372618248		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38120707C>T	ENST00000406386.3	+	7	2399	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	715				RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). {ECO:0000305}.	actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACCACCCAACAAGAG	0.577																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2143-2145)aCc>aTc		TRIO and F-actin binding protein							167.0	182.0	177.0					22																	38120707		1951	4147	6098	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120707C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2144C>T	22.37:g.38120707C>T	ENSP00000384312:p.Thr715Ile					RP1-37E16.12_ENST00000455236.1_RNA	p.T715I	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2399	+	Melanoma(58;0.0574)		715	RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332).				B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2144C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.876568	0.33162	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19669	2.13	4.84	1.65	0.23941	.	.	.	.	.	T	0.14356	0.0347	L	0.28400	0.85	0.19575	N	0.999969	B	0.21905	0.062	B	0.14023	0.01	T	0.22730	-1.0208	9	0.59425	D	0.04	.	6.8661	0.24094	0.0:0.7134:0.0:0.2866	.	715	Q9H2D6	TARA_HUMAN	I	715	ENSP00000384312:T715I	ENSP00000384312:T715I	T	+	2	0	TRIOBP	36450653	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.399000	0.07250	0.281000	0.22233	-0.220000	0.12472	ACC		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	346	0	0	0	1	0	6	346				
ADCY10	55811	broad.mit.edu	37	1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167870912G>A	ENST00000367851.4	-	5	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.R50*|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(148-150)Cga>Tga		adenylate cyclase 10 (soluble)							170.0	164.0	166.0					1																	167870912		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167870912G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.424C>T	1.37:g.167870912G>A	ENSP00000356825:p.Arg142*					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*	p.R50*			Q96PN6	ADCYA_HUMAN			5	645	-			142			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.148C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613178	0.87359	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	.	.	.	5.76	3.84	0.44239	.	0.270367	0.26983	N	0.021504	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6457	9.3555	0.38164	0.0:0.1576:0.6786:0.1638	.	.	.	.	X	142;50	.	ENSP00000356822:R50X	R	-	1	2	ADCY10	166137536	0.994000	0.37717	0.106000	0.21319	0.087000	0.18053	2.743000	0.47442	0.734000	0.32515	-0.323000	0.08544	CGA		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		59	447	0	0	0	1	0	59	447				
TRIOBP	11078	broad.mit.edu	37	22	38130478	38130478	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130478C>T	ENST00000406386.3	+	9	4390	c.4135C>T	c.(4135-4137)Cct>Tct	p.P1379S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1379					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTTGGAGTCCTGAGAAGAG	0.652																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4135-4137)Cct>Tct		TRIO and F-actin binding protein							28.0	32.0	31.0					22																	38130478		1924	4120	6044	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130478C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4135C>T	22.37:g.38130478C>T	ENSP00000384312:p.Pro1379Ser					RP1-37E16.12_ENST00000455236.1_RNA	p.P1379S	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4390	+	Melanoma(58;0.0574)		1379					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4135C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366733	0.24771	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29397	1.57	5.36	2.07	0.26955	.	.	.	.	.	T	0.19327	0.0464	N	0.24115	0.695	0.21325	N	0.999724	B	0.19706	0.038	B	0.14023	0.01	T	0.21109	-1.0255	9	0.87932	D	0	.	6.1763	0.20444	0.1476:0.6905:0.0:0.1619	.	1379	Q9H2D6	TARA_HUMAN	S	1379;1340	ENSP00000384312:P1379S	ENSP00000384312:P1379S	P	+	1	0	TRIOBP	36460424	0.104000	0.21937	0.750000	0.31169	0.005000	0.04900	0.904000	0.28491	0.625000	0.30304	0.563000	0.77884	CCT		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	79	0	0	0	1	0	6	79				
AKAP6	9472	broad.mit.edu	37	14	33292241	33292241	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr14:33292241C>T	ENST00000280979.4	+	13	5392	c.5222C>T	c.(5221-5223)tCt>tTt	p.S1741F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1741					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTAATGTCTCTTGCACCTCT	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5221-5223)tCt>tTt		A kinase (PRKA) anchor protein 6							185.0	154.0	165.0					14																	33292241		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292241C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5222C>T	14.37:g.33292241C>T	ENSP00000280979:p.Ser1741Phe					AKAP6_ENST00000557272.1_Intron	p.S1741F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5392	+	Breast(36;0.0388)|Prostate(35;0.15)		1741					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5222C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528551	0.64860	.	.	ENSG00000151320	ENST00000280979	T	0.14516	2.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.11060	-1.0603	10	0.87932	D	0	-9.7292	19.6071	0.95585	0.0:1.0:0.0:0.0	.	1741	Q13023	AKAP6_HUMAN	F	1741	ENSP00000280979:S1741F	ENSP00000280979:S1741F	S	+	2	0	AKAP6	32361992	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.062000	0.76706	2.728000	0.93425	0.650000	0.86243	TCT		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		52	364	0	0	0	1	0	52	364				
KCNK2	3776	broad.mit.edu	37	1	215408265	215408265	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:215408265A>C	ENST00000444842.2	+	7	1208	c.1058A>C	c.(1057-1059)gAc>gCc	p.D353A	KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A|KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	353					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGATTTATGACAAGTTCCAG	0.552																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1057-1059)gAc>gCc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						84.0	81.0	82.0					1																	215408265		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408265A>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1058A>C	1.37:g.215408265A>C	ENSP00000394033:p.Asp353Ala					KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A|KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A	p.D353A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1208	+			353					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1058A>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609139	0.87258	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.73;1.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.996;0.987;1.0	D;P;D	0.91635	0.966;0.827;0.999	T	0.20207	-1.0282	10	0.49607	T	0.09	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	338;353;349	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	A	349;338;353	ENSP00000375765:D349A;ENSP00000375764:D338A;ENSP00000394033:D353A	ENSP00000375764:D338A	D	+	2	0	KCNK2	213474888	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.270000	0.75569	0.459000	0.35465	GAC		0.552	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		36	216	0	0	0	1	0	36	216				
TUBGCP2	10844	broad.mit.edu	37	10	135106041	135106041	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:135106041C>T	ENST00000252936.3	-	7	1215	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000368563.2_Silent_p.E392E|TUBGCP2_ENST00000417178.2_Silent_p.E262E|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Silent_p.E420E			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	392					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGATCCACTTCTCCAGAACCT	0.627																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1174-1176)gaG>gaA		tubulin, gamma complex associated protein 2							126.0	101.0	110.0					10																	135106041		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106041C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1176G>A	10.37:g.135106041C>T						TUBGCP2_ENST00000417178.2_Silent_p.E262E|TUBGCP2_ENST00000252936.3_Silent_p.E392E|TUBGCP2_ENST00000543663.1_Silent_p.E420E	p.E392E	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1532	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	392					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1176G>A	CCDS7676.1																																																																																				0.627	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			24	160	0	0	0	1	0	24	160				
RPP14	11102	broad.mit.edu	37	3	58302276	58302276	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:58302276A>C	ENST00000445193.3	+	4	608	c.197A>C	c.(196-198)tAt>tCt	p.Y66S	RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S|RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S|RPP14_ENST00000528153.1_5'Flank|RPP14_ENST00000477305.1_3'UTR	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	66					tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		ATCCTAACCTATGAAGAGAAG	0.418																																						ENST00000445193.2																			0				large_intestine(2)|lung(1)	3						c.(196-198)tAt>tCt		ribonuclease P/MRP 14kDa subunit							171.0	158.0	162.0					3																	58302276		2203	4300	6503	SO:0001583	missense	11102				tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding	g.chr3:58302276A>C	AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"""ribonuclease P 14kDa subunit"""			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.197A>C	3.37:g.58302276A>C	ENSP00000412894:p.Tyr66Ser					RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S|RPP14_ENST00000544156.1_5'UTR|RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S	p.Y66S	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)	4	608	+			66					Q53X97	Missense_Mutation	SNP	ENST00000445193.3	37	c.197A>C	CCDS2888.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167997	0.78339	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.81	4.63	0.57726	.	0.222920	0.48286	D	0.000193	T	0.71970	0.3403	M	0.70275	2.135	0.42354	D	0.992384	D	0.69078	0.997	D	0.68621	0.959	T	0.74460	-0.3658	9	0.87932	D	0	-16.2431	10.9368	0.47249	0.8603:0.0:0.0:0.1397	.	66	O95059	RPP14_HUMAN	S	66	.	ENSP00000295959:Y66S	Y	+	2	0	RPP14	58277316	0.999000	0.42202	0.844000	0.33320	0.913000	0.54294	3.766000	0.55280	0.980000	0.38523	0.533000	0.62120	TAT		0.418	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353527.2	NM_007042		65	426	0	0	0	1	0	65	426				
WRN	7486	broad.mit.edu	37	8	30999101	30999101	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:30999101C>T	ENST00000298139.5	+	25	3372	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1041					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.C1041C(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGAAGATTTGCGCCCTTACGA	0.403			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			1	Substitution - coding silent(1)	p.C1041C(1)	endometrium(1)	central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3121-3123)tgC>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							103.0	101.0	102.0					8																	30999101		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30999101C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3123C>T	8.37:g.30999101C>T							p.C1041C	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	25	3372	+		Breast(100;0.195)	1041					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3123C>T	CCDS6082.1																																																																																				0.403	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	470	0	0	0	1	0	5	470				
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002					ENST00000313503.1																			1	Substitution - Missense(1)	p.N7D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(19-21)Aac>Gac		olfactory receptor, family 8, subfamily H, member 2							196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872537A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp	HNSCC(53;0.14)					p.N7D	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.19A>G	CCDS31518.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		5	621	0	0	0	1	0	5	621				
DYSF	8291	broad.mit.edu	37	2	71883405	71883405	+	Silent	SNP	G	G	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:71883405G>C	ENST00000258104.3	+	42	4900	c.4623G>C	c.(4621-4623)gtG>gtC	p.V1541V	DYSF_ENST00000409762.1_Silent_p.V1558V|DYSF_ENST00000409366.1_Silent_p.V1563V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1549V|DYSF_ENST00000413539.2_Silent_p.V1572V|DYSF_ENST00000394120.2_Silent_p.V1542V|DYSF_ENST00000409582.3_Silent_p.V1579V|DYSF_ENST00000409651.1_Silent_p.V1573V|DYSF_ENST00000410020.3_Silent_p.V1580V|DYSF_ENST00000429174.2_Silent_p.V1562V|DYSF_ENST00000410041.1_Silent_p.V1559V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1541					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCATCTGTGATTGGTGAAT	0.517																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4621-4623)gtG>gtC		dysferlin							265.0	258.0	260.0					2																	71883405		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883405G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4623G>C	2.37:g.71883405G>C						DYSF_ENST00000413539.2_Silent_p.V1572V|DYSF_ENST00000409651.1_Silent_p.V1573V|DYSF_ENST00000410041.1_Silent_p.V1559V|DYSF_ENST00000410020.3_Silent_p.V1580V|DYSF_ENST00000409366.1_Silent_p.V1563V|DYSF_ENST00000394120.2_Silent_p.V1542V|DYSF_ENST00000409582.3_Silent_p.V1579V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1549V|DYSF_ENST00000429174.2_Silent_p.V1562V|DYSF_ENST00000409762.1_Silent_p.V1558V	p.V1541V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4900	+			1541					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4623G>C	CCDS1918.1																																																																																				0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	1143	0	0	0	1	0	10	1143				
TTN	7273	broad.mit.edu	37	2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A	rs374203813		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:179640850G>A	ENST00000591111.1	-	28	5965	c.5741C>T	c.(5740-5742)gCg>gTg	p.A1914V	TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A1914V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V			Q8WZ42	TITIN_HUMAN	titin	12751	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A1868V(4)|p.A1914V(4)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATTTTCCGCGGTGACCTT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		22651	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			8	Substitution - Missense(8)	p.A1868V(4)|p.A1914V(4)	prostate(5)|pancreas(3)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5740-5742)gCg>gTg		titin							216.0	214.0	215.0					2																	179640850		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640850G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5741C>T	2.37:g.179640850G>A	ENSP00000465570:p.Ala1914Val					TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000591111.1_Missense_Mutation_p.A1914V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V	p.A1914V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5965	-			1632			Ig-like 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5741C>T		.	.	.	.	.	.	.	.	.	.	G	13.82	2.350863	0.41599	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84884	0.5571	M	0.77616	2.38	0.43729	D	0.996215	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.86984	0.2106	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1868;1868;1868;1914;1914	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	1914;1868;1868;1868;1868;1914	ENSP00000343764:A1914V;ENSP00000434586:A1868V;ENSP00000340554:A1868V;ENSP00000352154:A1868V;ENSP00000354117:A1914V	ENSP00000340554:A1868V	A	-	2	0	TTN	179349095	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	9.817000	0.99352	2.385000	0.81259	0.609000	0.83330	GCG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		118	677	0	0	0	1	0	118	677				
ZNF426	79088	broad.mit.edu	37	19	9639110	9639110	+	Silent	SNP	G	G	A	rs375817888		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:9639110G>A	ENST00000535489.1	-	6	1947	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	ZNF426_ENST00000253115.2_Silent_p.C537C|ZNF426_ENST00000593003.1_Silent_p.C499C			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AAGCTTTCCCGCATTGCTGAC	0.408																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1495-1497)tgC>tgT		zinc finger protein 426							125.0	109.0	115.0					19																	9639110		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639110G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1611C>T	19.37:g.9639110G>A						ZNF426_ENST00000535489.1_Silent_p.C537C|ZNF426_ENST00000253115.2_Silent_p.C537C	p.C499C			Q9BUY5	ZN426_HUMAN			6	1974	-			537					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.1497C>T	CCDS12215.1																																																																																				0.408	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		5	363	0	0	0	1	0	5	363				
FOXI2	399823	broad.mit.edu	37	10	129536020	129536020	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:129536020G>C	ENST00000388920.4	+	1	522	c.483G>C	c.(481-483)aaG>aaC	p.K161N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ACTGCTTCAAGAAGGTGCCCC	0.662																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(481-483)aaG>aaC		forkhead box I2							36.0	39.0	38.0					10																	129536020		692	1591	2283	SO:0001583	missense	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr10:129536020G>C	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.483G>C	10.37:g.129536020G>C	ENSP00000373572:p.Lys161Asn						p.K161N	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			1	522	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	161						Missense_Mutation	SNP	ENST00000388920.4	37	c.483G>C	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973821	0.74246	.	.	ENSG00000186766	ENST00000388920	D	0.95482	-3.72	4.14	3.24	0.37175	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.95775	0.8812	10	0.72032	D	0.01	.	10.503	0.44817	0.0964:0.0:0.9036:0.0	.	161	Q6ZQN5	FOXI2_HUMAN	N	161	ENSP00000373572:K161N	ENSP00000373572:K161N	K	+	3	2	FOXI2	129426010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.971000	0.29396	0.954000	0.37851	0.462000	0.41574	AAG		0.662	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		15	56	0	0	0	1	0	15	56				
TRIOBP	11078	broad.mit.edu	37	22	38130531	38130531	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130531C>T	ENST00000406386.3	+	9	4443	c.4188C>T	c.(4186-4188)ccC>ccT	p.P1396P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1396					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCTGCCCCCCAGGACATCAG	0.657																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4186-4188)ccC>ccT		TRIO and F-actin binding protein							14.0	17.0	16.0					22																	38130531		1855	4075	5930	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130531C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4188C>T	22.37:g.38130531C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.P1396P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4443	+	Melanoma(58;0.0574)		1396					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.4188C>T	CCDS43015.1																																																																																				0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	44	0	0	0	1	0	7	44				
COL6A2	1292	broad.mit.edu	37	21	47549168	47549168	+	Intron	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr21:47549168G>A	ENST00000300527.4	+	28	2565				COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000357838.4_Silent_p.P840P|COL6A2_ENST00000409416.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAGGGGCCGGACGCCACCT	0.677																																						ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2518-2520)ccG>ccA		collagen, type VI, alpha 2							79.0	80.0	80.0					21																	47549168		2203	4299	6502	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549168G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2700G>A	21.37:g.47549168G>A						COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron	p.P840P	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2602	+	Breast(49;0.245)		577			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2520G>A	CCDS13728.1																																																																																				0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			40	467	0	0	0	1	0	40	467				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	540	0	0	0	1	0	7	540				
FOXS1	2307	broad.mit.edu	37	20	30432939	30432939	+	Missense_Mutation	SNP	G	G	A	rs370481154		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr20:30432939G>A	ENST00000375978.3	-	1	481	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	136					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGGCTGGTCGCCCTGAGGGG	0.706																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(406-408)gCg>gTg		forkhead box S1		G	VAL/ALA	0,4400		0,0,2200	13.0	14.0	14.0		407	-4.2	0.0	20		14	1,8583		0,1,4291	no	missense	FOXS1	NM_004118.3	64	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	benign	136/331	30432939	1,12983	2200	4292	6492	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr20:30432939G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.407C>T	20.37:g.30432939G>A	ENSP00000365145:p.Ala136Val						p.A136V	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	481	-			136					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.407C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874061	0.17395	0.0	1.16E-4	ENSG00000179772	ENST00000375978	D	0.93604	-3.25	4.47	-4.25	0.03766	.	0.753342	0.11194	N	0.589598	T	0.80874	0.4707	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.67221	-0.5725	10	0.39692	T	0.17	.	0.731	0.00957	0.2316:0.2146:0.3362:0.2176	.	136	O43638	FOXS1_HUMAN	V	136	ENSP00000365145:A136V	ENSP00000365145:A136V	A	-	2	0	FOXS1	29896600	0.000000	0.05858	0.011000	0.14972	0.101000	0.19017	-0.227000	0.09126	-0.497000	0.06641	0.455000	0.32223	GCG		0.706	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		11	71	0	0	0	1	0	11	71				
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	rs201404379		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 1		G	HIS/ARG	0,4406		0,0,2203	150.0	131.0	137.0		1850	4.3	1.0	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	p.R617H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2374	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	504	0	0	0	1	0	6	504				
POU3F3	5455	broad.mit.edu	37	2	105473188	105473188	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:105473188G>A	ENST00000361360.2	+	1	1220	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	407					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCGCAAGCGCAAGAAGCGG	0.647																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1219-1221)cGc>cAc		POU class 3 homeobox 3							39.0	40.0	39.0					2																	105473188		2203	4300	6503	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473188G>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1220G>A	2.37:g.105473188G>A	ENSP00000355001:p.Arg407His					RP11-13J10.1_ENST00000598623.1_RNA	p.R407H	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	1220	+			407					P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.1220G>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353431	0.82243	.	.	ENSG00000198914	ENST00000361360	D	0.97303	-4.33	4.14	4.14	0.48551	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	U	0.000017	D	0.99127	0.9699	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98808	1.0742	10	0.87932	D	0	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	407	P20264	PO3F3_HUMAN	H	407	ENSP00000355001:R407H	ENSP00000355001:R407H	R	+	2	0	POU3F3	104839620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.428000	0.80296	1.858000	0.53909	0.462000	0.41574	CGC		0.647	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			4	142	0	0	0	1	0	4	142				
TEPP	374739	broad.mit.edu	37	16	58011728	58011728	+	Missense_Mutation	SNP	G	G	A	rs200723974		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:58011728G>A	ENST00000441824.2	+	2	210	c.173G>A	c.(172-174)cGc>cAc	p.R58H	TEPP_ENST00000290871.5_Missense_Mutation_p.R58H|TEPP_ENST00000569996.1_Intron	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	58						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GCTATGGCCCGCATCATTGAC	0.632																																						ENST00000290871.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						c.(172-174)cGc>cAc		testis, prostate and placenta expressed		G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	129.0	118.0	122.0		173,173	0.1	1.0	16		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TEPP	NM_199456.2,NM_199046.2	29,29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	58/272,58/299	58011728	2,12994	2198	4300	6498	SO:0001583	missense	374739					extracellular region		g.chr16:58011728G>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.173G>A	16.37:g.58011728G>A	ENSP00000401917:p.Arg58His					TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R58H	p.R58H	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN			2	210	+			58					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.173G>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789990	0.31685	0.0	2.33E-4	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.54675	0.56;0.58	4.43	0.0534	0.14306	.	0.914461	0.09148	N	0.842023	T	0.39489	0.1080	L	0.47716	1.5	0.23095	N	0.998305	B;B	0.34255	0.219;0.445	B;B	0.25140	0.034;0.058	T	0.25606	-1.0127	10	0.59425	D	0.04	-19.4532	6.6328	0.22867	0.4258:0.0:0.5742:0.0	.	58;58	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	H	58	ENSP00000290871:R58H;ENSP00000401917:R58H	ENSP00000290871:R58H	R	+	2	0	TEPP	56569229	0.877000	0.30153	0.992000	0.48379	0.595000	0.36748	0.152000	0.16302	0.069000	0.16605	-0.466000	0.05196	CGC		0.632	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		6	696	0	0	0	1	0	6	696				
ATRX	546	broad.mit.edu	37	X	76949326	76949326	+	Silent	SNP	G	G	T	rs398123424		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chrX:76949326G>T	ENST00000373344.5	-	6	685	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ATRX_ENST00000395603.3_Intron|ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(469-471)ctC>ctA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151.0	132.0	138.0					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76949326G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>A	X.37:g.76949326G>T						ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron	p.L157L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			6	685	-			157					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.471C>A	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	301	1	0	1.55795e-14	1	1.63488e-14	11	301				
MUC16	94025	broad.mit.edu	37	19	9047851	9047851	+	Silent	SNP	C	C	T	rs149660691	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:9047851C>T	ENST00000397910.4	-	5	33983	c.33780G>A	c.(33778-33780)ccG>ccA	p.P11260P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATTTGTAAACGGCTCACCAG	0.478													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22685	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33778-33780)ccG>ccA		mucin 16, cell surface associated				0,3880		0,0,1940	66.0	59.0	61.0		33780	0.8	0.0	19	dbSNP_134	61	1,8291		0,1,4145	no	coding-synonymous	MUC16	NM_024690.2		0,1,6085	TT,TC,CC		0.0121,0.0,0.0082		11260/14508	9047851	1,12171	1940	4146	6086	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047851C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33780G>A	19.37:g.9047851C>T							p.P11260P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33983	-			11262			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.33780G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	125	0	0	0	1	0	6	125				
ZNF761	388561	broad.mit.edu	37	19	53958910	53958910	+	RNA	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:53958910A>G	ENST00000454407.1	+	0	1602							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K329K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCCTACAAATGTAATGAGT	0.413																																						ENST00000454407.1																			1	Substitution - coding silent(1)	p.K329K(1)	endometrium(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							156.0	156.0	156.0					19																	53958910		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958910A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958910A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1602	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		8	817	0	0	0	1	0	8	817				
NLRP9	338321	broad.mit.edu	37	19	56244155	56244155	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:56244155T>C	ENST00000332836.2	-	2	1069	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	348	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCCTCTGTTTCACACAAGTA	0.418																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1042-1044)Aaa>Gaa		NLR family, pyrin domain containing 9							108.0	104.0	106.0					19																	56244155		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244155T>C	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1042A>G	19.37:g.56244155T>C	ENSP00000331857:p.Lys348Glu						p.K348E	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1069	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	348			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1042A>G	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363034	0.41902	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83837	-1.77	2.56	2.56	0.30785	.	.	.	.	.	D	0.88055	0.6334	M	0.67569	2.06	0.09310	N	1	D	0.71674	0.998	D	0.68765	0.96	T	0.76688	-0.2867	9	0.72032	D	0.01	.	9.0339	0.36275	0.0:0.0:0.0:1.0	.	348	Q7RTR0	NALP9_HUMAN	E	348	ENSP00000331857:K348E	ENSP00000331857:K348E	K	-	1	0	NLRP9	60935967	0.298000	0.24417	0.006000	0.13384	0.010000	0.07245	0.754000	0.26390	1.464000	0.47987	0.524000	0.50904	AAA		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		53	449	0	0	0	1	0	53	449				
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	8						4	8	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	601						7	601	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgtfs	p.C108fs																								CTTATTACTGTCAACAGAGTG	0.512																																						ENST00000603238.1																			0											c.(322-324)tgfs																																						SO:0001589	frameshift_variant	0							g.chr2:90458648delT																												ENST00000603238.1:c.324delT	2.37:g.90458648delT	ENSP00000474044:p.Cys108fs						p.108fs							2	324	+									Frame_Shift_Del	DEL	ENST00000603238.1	37	c.324delT																																																																																					0.512	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			8	3507						8	3507	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125647339	125647339	+	IGR	DEL	C	C	-	rs200677662		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:125647339delC	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCAGGCCAGGCCAGGA	0.557																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647339delC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647339delC								NR_024251.1						0	484	+								D3DNA5	RNA	DEL	ENST00000340333.3	37		CCDS33840.1																																																																																				0.557	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		7	360						7	360	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	405						9	405	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	3						5	3	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		11	305						11	305	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148984411	148984411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:148984411delT	ENST00000336498.3	+	21	2379	c.2140delT	c.(2140-2142)tttfs	p.F714fs	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCCTTTCCCCTTTTCTCCTCC	0.542																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2140-2142)ttfs		Rho GTPase activating protein 10							140.0	98.0	112.0					4																	148984411		2203	4300	6503	SO:0001589	frameshift_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148984411delT	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2140delT	4.37:g.148984411delT	ENSP00000336923:p.Phe714fs					ARHGAP10_ENST00000414545.2_Intron	p.F714fs	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	21	2379	+	all_hematologic(180;0.151)	Renal(17;0.0166)	714					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000336498.3	37	c.2140delT	CCDS34075.1																																																																																				0.542	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		36	187						36	187	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249472	153249473	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:153249472_153249473insAA	ENST00000281708.4	-	9	2534_2535	c.1305_1306insTT	c.(1303-1308)attagtfs	p.S436fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S436fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S436fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S356fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S260fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S318fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	436					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTAGATCCACTAATGATGATGT	0.416			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1303-1308)atgtggfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249472_153249473insAA	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1304_1305dupTT	4.37:g.153249473_153249474dupAA	ENSP00000281708:p.Ser436fs					FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.MW259fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.MW435fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.MW355fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.MW317fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.MW435fs	p.MW435fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2534_2535	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	435					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.1305_1306insTT	CCDS3777.1																																																																																				0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			102	665						102	665	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	21						7	21	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	633						7	633	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.500	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	408						7	408	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			8	1385						8	1385	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			7	182						7	182	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.65			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - Nonsense(2)|Deletion - Frameshift(1)	p.Q2417*(2)|p.P2416fs*11(1)	haematopoietic_and_lymphoid_tissue(3)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7243-7248)cag>c		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390945_139390947delGTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7244_7246delCAC	9.37:g.139390954_139390956delGTG	ENSP00000277541:p.Pro2415del	HNSCC(8;0.001)					p.PQ2415del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7319_7321	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2415			Poly-Pro.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.7244_7246delCAC	CCDS43905.1																																																																																				0.650	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	219						7	219	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs					ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs	p.P1690fs							24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		13	512						13	512	---	---	---	---
LINC00502	100874184	broad.mit.edu	37	10	92813180	92813180	+	lincRNA	DEL	A	A	-	rs111380766		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:92813180delA	ENST00000423621.1	+	0	264									long intergenic non-protein coding RNA 502																		TGGGCCTGATAAAAAAAAAGC	0.343																																						ENST00000423621.1																			0																																																			0							g.chr10:92813180delA			10q23.31	2012-10-12			ENSG00000224851	ENSG00000224851		"""Long non-coding RNAs"""	43442	non-coding RNA	RNA, long non-coding							Standard	NR_047467		Approved		uc031pwt.1		OTTHUMG00000018738		10.37:g.92813180delA														0	264	+									RNA	DEL	ENST00000423621.1	37																																																																																						0.343	LINC00502-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000049361.1			7	84						7	84	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		8	686						8	686	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	325						8	325	---	---	---	---
EHF	26298	broad.mit.edu	37	11	34667997	34667997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:34667997delT	ENST00000533754.1	+	3	326	c.109delT	c.(109-111)tttfs	p.F38fs	EHF_ENST00000527935.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000530286.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000531794.1_Frame_Shift_Del_p.F60fs|EHF_ENST00000257831.3_Frame_Shift_Del_p.F38fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.F38fs|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000531728.1_Frame_Shift_Del_p.F38fs					ets homologous factor									p.F38fs*51(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTCCAGTGGGTTTTTTGGAGG	0.537																																						ENST00000257831.3																		NFIA/EHF(2)	1	Deletion - Frameshift(1)	p.F38fs*51(1)	lung(1)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(109-111)ttfs		ets homologous factor							128.0	115.0	119.0					11																	34667997		2202	4298	6500	SO:0001589	frameshift_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34667997delT	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.109delT	11.37:g.34667997delT	ENSP00000435837:p.Phe38fs					EHF_ENST00000531794.1_Frame_Shift_Del_p.F60fs|EHF_ENST00000530286.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000527935.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000531728.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000533754.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.F38fs|EHF_ENST00000527001.1_3'UTR	p.F38fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	230	+		all_hematologic(20;0.117)	38			PNT.			Frame_Shift_Del	DEL	ENST00000533754.1	37	c.109delT	CCDS7894.1																																																																																				0.537	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		7	669						7	669	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50.0	62.0	58.0			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	743						7	743	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		9	410						9	410	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		8	666						8	666	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	499						8	499	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:67693646_67693648delGCA	ENST00000393919.4	-	3	815_817	c.551_553delTGC	c.(550-555)ctgcag>cag	p.L184del	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_In_Frame_Del_p.L181del			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.65																																						ENST00000219251.8																			1	Deletion - In frame(1)	p.L181delL(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(541-546)cag>c		adrenocortical dysplasia homolog (mouse)																																				SO:0001651	inframe_deletion	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693646_67693648delGCA	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.551_553delTGC	16.37:g.67693655_67693657delGCA	ENSP00000377496:p.Leu184del					ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	p.LQ181del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	873_875	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	184					Q562H5|Q9H8F9	In_Frame_Del	DEL	ENST00000393919.4	37	c.542_544delTGC	CCDS42181.1																																																																																				0.650	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		7	569						7	569	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:7578213delA	ENST00000269305.4	-	6	825	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> 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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(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)	CACTATGTCGAAAAGTGTTTC	0.532		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"""		36	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(2)	p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|stomach(1)|soft_tissue(1)|liver(1)|lung(1)|breast(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	GRCh37	CD011205	TP53	D		c.(634-636)ttfs	Other conserved DNA damage response genes	tumor protein p53							134.0	120.0	125.0					17																	7578213		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578213delA	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.636delT	17.37:g.7578213delA	ENSP00000269305:p.Phe212fs	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_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs	p.F212fs	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	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> 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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.636delT	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	160						31	160	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1003526	1003527	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:1003526_1003527delCA	ENST00000234389.3	+	2	843_844	c.824_825delCA	c.(823-825)ccafs	p.P276fs	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	276					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGGGGCTGCCACCAGGGCTGC	0.748																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(823-825)cfs		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001589	frameshift_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1003526_1003527delCA		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.824_825delCA	19.37:g.1003526_1003527delCA	ENSP00000234389:p.Pro276fs						p.P276fs	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	843_844	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	276					Q5EAK7|Q7RTW9	Frame_Shift_Del	DEL	ENST00000234389.3	37	c.824_825delCA	CCDS32861.1																																																																																				0.748	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			2	4						2	4	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|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		8	894						8	894	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396764	55396765	+	Frame_Shift_Ins	INS	-	-	A	rs144393831	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:55396764_55396765insA	ENST00000355524.3	+	3	198_199	c.188_189insA	c.(187-192)ataaaafs	p.IK63fs	FCAR_ENST00000391723.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.IK63fs|FCAR_ENST00000359272.4_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000391724.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Frame_Shift_Ins_p.IK63fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Frame_Shift_Ins_p.IK51fs|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.IK63fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	63	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTGATGATCATAAAAAACTCCA	0.475																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(187-189)aaafs		Fc fragment of IgA, receptor for																																				SO:0001589	frameshift_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396764_55396765insA	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.194dupA	19.37:g.55396770_55396770dupA	ENSP00000347714:p.Ile63fs					FCAR_ENST00000345937.4_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391724.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000391726.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000359272.4_Frame_Shift_Ins_p.K51fs	p.K63fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	198_199	+			63			Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Frame_Shift_Ins	INS	ENST00000355524.3	37	c.188_189insA	CCDS12907.1																																																																																				0.475	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		35	257						35	257	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	1612						7	1612	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		6	9						6	9	---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29694812	29694813	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:29694812_29694813insG	ENST00000397938.2	+	14	1826_1827	c.1507_1508insG	c.(1507-1509)cggfs	p.R503fs	EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.R502fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.R508fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.R465fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.R430fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.R447fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	503	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R503Q(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAGGACCCCGGGGTTCCCGA	0.604			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R503Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1507-1509)gggfs		EWS RNA-binding protein 1																																				SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29694812_29694813insG		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1511dupG	22.37:g.29694816_29694816dupG	ENSP00000381031:p.Arg503fs					EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs	p.G503fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			14	1826_1827	+			503			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Ins	INS	ENST00000397938.2	37	c.1507_1508insG	CCDS13851.1																																																																																				0.604	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		7	502						7	502	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	494						9	494	---	---	---	---
