#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
HEBP1	50865	broad.mit.edu	37	12	13154542	13154542	+	5'Flank	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:13154542C>A	ENST00000014930.4	-	0	0				RP11-377D9.3_ENST00000543321.1_lincRNA|HEBP1_ENST00000536942.1_5'Flank	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GACGGTGGCGCCGAACCGGTC	0.746																																						ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13154542C>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13154542C>A	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.746	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			2	0	1	0	1	1	1	2	0				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	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>Tgt		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>A	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>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	p.G12C	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	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		10	3	1	0	2.17888e-05	1	2.51045e-05	10	3				
HCN4	10021	broad.mit.edu	37	15	73616239	73616239	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:73616239C>T	ENST00000261917.3	-	8	3188	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	732					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTGAAGACGCCGGAGTTGAG	0.597																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2194-2196)gGc>gAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							73.0	80.0	77.0					15																	73616239		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616239C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2195G>A	15.37:g.73616239C>T	ENSP00000261917:p.Gly732Asp						p.G732D	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3188	-			732					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2195G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687095	0.48097	.	.	ENSG00000138622	ENST00000261917	D	0.92446	-3.04	3.46	3.46	0.39613	.	.	.	.	.	D	0.95586	0.8565	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96013	0.9003	9	0.62326	D	0.03	.	15.125	0.72475	0.0:1.0:0.0:0.0	.	732	Q9Y3Q4	HCN4_HUMAN	D	732	ENSP00000261917:G732D	ENSP00000261917:G732D	G	-	2	0	HCN4	71403292	1.000000	0.71417	0.972000	0.41901	0.679000	0.39708	7.371000	0.79600	1.761000	0.52028	0.313000	0.20887	GGC		0.597	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		22	30	0	0	0	1	0	22	30				
PHC1	1911	broad.mit.edu	37	12	9075367	9075367	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:9075367C>G	ENST00000543824.1	+	7	927	c.595C>G	c.(595-597)Cat>Gat	p.H199D	PHC1_ENST00000544916.1_Missense_Mutation_p.H199D|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Missense_Mutation_p.H154D|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	199					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H199Y(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TCCTGGAGTTCATGCAGATGC	0.592																																						ENST00000433083.2																			2	Substitution - Missense(2)	p.H199Y(2)	skin(2)	breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(460-462)Cat>Gat		polyhomeotic homolog 1 (Drosophila)							108.0	80.0	90.0					12																	9075367		2203	4300	6503	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9075367C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.595C>G	12.37:g.9075367C>G	ENSP00000440674:p.His199Asp					PHC1_ENST00000543824.1_Missense_Mutation_p.H199D|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.H199D	p.H154D			P78364	PHC1_HUMAN			5	605	+			199					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.460C>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258090	0.59321	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000539063;ENST00000542346	T;T;T;T	0.23348	1.93;1.93;1.91;1.93	5.66	5.66	0.87406	.	0.153063	0.45361	D	0.000375	T	0.37073	0.0990	L	0.39898	1.24	0.80722	D	1	D;P;P	0.56968	0.978;0.826;0.826	P;P;P	0.56127	0.792;0.608;0.608	T	0.01192	-1.1423	10	0.22706	T	0.39	-20.0773	19.3489	0.94376	0.0:1.0:0.0:0.0	.	199;199;199	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	D	199;199;154;199;141;10	ENSP00000440674:H199D;ENSP00000251757:H199D;ENSP00000399194:H154D;ENSP00000437659:H199D	ENSP00000251757:H199D	H	+	1	0	PHC1	8966634	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	5.660000	0.68018	2.690000	0.91761	0.655000	0.94253	CAT		0.592	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		9	9	0	0	0	1	0	9	9				
MRPS11	64963	broad.mit.edu	37	15	89021195	89021195	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:89021195G>A	ENST00000325844.4	+	6	835	c.570G>A	c.(568-570)aaG>aaA	p.K190K	MRPS11_ENST00000353598.6_Silent_p.K157K	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	190					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCCCAGGAAGGCTCGGAAGC	0.587																																						ENST00000325844.4																			0				large_intestine(3)	3						c.(568-570)aaG>aaA		mitochondrial ribosomal protein S11							65.0	55.0	59.0					15																	89021195		2201	4299	6500	SO:0001819	synonymous_variant	64963				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr15:89021195G>A	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.570G>A	15.37:g.89021195G>A						MRPS11_ENST00000353598.6_Silent_p.K157K	p.K190K	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		6	835	+	Lung NSC(78;0.203)		190					B2RD52|Q969D7|Q96GI3|Q9BYC3	Silent	SNP	ENST00000325844.4	37	c.570G>A	CCDS10342.1																																																																																				0.587	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		38	31	0	0	0	1	0	38	31				
AMOT	154796	broad.mit.edu	37	X	112022454	112022454	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:112022454C>T	ENST00000524145.1	-	11	3002	c.2928G>A	c.(2926-2928)ccG>ccA	p.P976P	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Silent_p.P567P|AMOT_ENST00000371959.3_Silent_p.P976P|AMOT_ENST00000371962.1_Silent_p.P744P			Q4VCS5	AMOT_HUMAN	angiomotin	976					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GAACTGGAGCCGGAGCAGCTG	0.627																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2926-2928)ccG>ccA		angiomotin							22.0	22.0	22.0					X																	112022454		2197	4295	6492	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022454C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2928G>A	X.37:g.112022454C>T						AMOT_ENST00000304758.1_Silent_p.P567P|AMOT_ENST00000524145.1_Silent_p.P976P|AMOT_ENST00000371962.1_Silent_p.P744P	p.P976P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2927	-			976					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2928G>A	CCDS48154.1																																																																																				0.627	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		9	8	0	0	0	1	0	9	8				
DLGAP4	22839	broad.mit.edu	37	20	35061024	35061024	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:35061024G>A	ENST00000373907.2	+	2	1103	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000373913.3_Missense_Mutation_p.A302T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	302					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCAGCCACGCCCACGAGGT	0.637																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(904-906)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 4							24.0	27.0	26.0					20																	35061024		2203	4299	6502	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35061024G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.904G>A	20.37:g.35061024G>A	ENSP00000363014:p.Ala302Thr					DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A302T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T	p.A302T			Q9Y2H0	DLGP4_HUMAN			3	1384	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	302					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.904G>A		.	.	.	.	.	.	.	.	.	.	G	14.31	2.496385	0.44352	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.27	4.3	0.51218	.	0.174840	0.50627	N	0.000104	T	0.36936	0.0985	M	0.62154	1.92	0.45528	D	0.998485	B	0.20459	0.045	B	0.12837	0.008	T	0.23726	-1.0180	10	0.56958	D	0.05	.	13.2367	0.59972	0.0775:0.0:0.9225:0.0	.	302	Q9Y2H0-1	.	T	302	ENSP00000363023:A302T;ENSP00000384954:A302T;ENSP00000363014:A302T;ENSP00000341633:A302T	ENSP00000341633:A302T	A	+	1	0	DLGAP4	34494438	1.000000	0.71417	0.932000	0.37286	0.919000	0.55068	3.930000	0.56522	1.210000	0.43336	0.561000	0.74099	GCC		0.637	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	17	0	0	0	1	0	4	17				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	42	0	0	0	1	0	3	42				
EPHA5	2044	broad.mit.edu	37	4	66218763	66218763	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:66218763C>A	ENST00000273854.3	-	13	2895	c.2295G>T	c.(2293-2295)ttG>ttT	p.L765F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCCTACCTTCAAAAATGTAT	0.358										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2293-2295)ttG>ttT		EPH receptor A5							109.0	99.0	102.0					4																	66218763		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66218763C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2295G>T	4.37:g.66218763C>A	ENSP00000273854:p.Leu765Phe	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F	p.L765F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			13	2895	-			765			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2295G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032552	0.54790	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.73	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.153463	0.30501	N	0.009493	D	0.96116	0.8734	H	0.95816	3.725	0.49915	D	0.999831	D;D;P;D	0.89917	0.957;1.0;0.947;1.0	P;D;P;D	0.97110	0.849;1.0;0.765;1.0	D	0.95006	0.8147	10	0.87932	D	0	.	9.3595	0.38186	0.0:0.2032:0.0:0.7968	.	744;766;743;765	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	765;602;743;766	ENSP00000273854:L765F;ENSP00000389208:L602F;ENSP00000346899:L743F;ENSP00000427638:L766F	ENSP00000273854:L765F	L	-	3	2	EPHA5	65901358	0.936000	0.31750	1.000000	0.80357	0.707000	0.40811	-0.001000	0.12947	0.442000	0.26555	-0.385000	0.06624	TTG		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		9	13	1	0	0.00621372	1	0.00672096	9	13				
ANKRD6	22881	broad.mit.edu	37	6	90276788	90276788	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:90276788C>G	ENST00000522441.1	+	2	734	c.93C>G	c.(91-93)aaC>aaG	p.N31K	ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000369408.5_Missense_Mutation_p.N31K|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	31					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCTCATCAACAAGGGCGCCA	0.502																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(91-93)aaC>aaG		ankyrin repeat domain 6							50.0	50.0	50.0					6																	90276788		1951	4143	6094	SO:0001583	missense	22881						protein binding	g.chr6:90276788C>G	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.93C>G	6.37:g.90276788C>G	ENSP00000430985:p.Asn31Lys					ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K|ANKRD6_ENST00000522441.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000520886.2_Intron	p.N31K	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	2	442	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	31					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.93C>G	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772402	0.90108	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;1.06;-0.04;-0.04;-0.04	5.89	5.89	0.94794	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000015	T	0.61073	0.2318	N	0.12611	0.24	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.996	T	0.68815	-0.5309	10	0.62326	D	0.03	-26.3483	20.2618	0.98447	0.0:1.0:0.0:0.0	.	31;31;31;31	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	K	31	ENSP00000358416:N31K;ENSP00000345767:N31K;ENSP00000396771:N31K;ENSP00000431061:N31K;ENSP00000429431:N31K;ENSP00000428377:N31K;ENSP00000430985:N31K;ENSP00000429337:N31K;ENSP00000430954:N31K;ENSP00000428309:N31K;ENSP00000429782:N31K	ENSP00000345767:N31K	N	+	3	2	ANKRD6	90333507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.793000	0.96121	0.655000	0.94253	AAC		0.502	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			6	9	0	0	0	1	0	6	9				
SLC11A1	6556	broad.mit.edu	37	2	219249939	219249939	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:219249939G>A	ENST00000233202.6	+	4	683	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	115					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.V115M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTCTGGGCGTGGTGACAGG	0.632																																						ENST00000233202.6																			2	Substitution - Missense(2)	p.V115M(2)	NS(1)|breast(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(343-345)Gtg>Atg		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							106.0	99.0	101.0					2																	219249939		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219249939G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.343G>A	2.37:g.219249939G>A	ENSP00000233202:p.Val115Met					SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	p.V115M	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	683	+		Renal(207;0.0474)	115					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.343G>A	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486649	0.84854	.	.	ENSG00000018280	ENST00000233202	T	0.72835	-0.69	5.06	4.19	0.49359	.	0.163454	0.42053	D	0.000765	D	0.84406	0.5465	M	0.86864	2.845	0.80722	D	1	D;D;D	0.71674	0.98;0.995;0.998	P;D;D	0.67548	0.781;0.913;0.952	D	0.87201	0.2241	10	0.72032	D	0.01	-17.6923	13.4754	0.61306	0.0763:0.0:0.9237:0.0	.	115;115;115	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	M	115	ENSP00000233202:V115M	ENSP00000233202:V115M	V	+	1	0	SLC11A1	218958183	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	6.151000	0.71806	1.366000	0.46076	0.549000	0.68633	GTG		0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		41	112	0	0	0	1	0	41	112				
POTED	317754	broad.mit.edu	37	21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A	rs562875736	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:15011886G>A	ENST00000299443.5	+	10	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	487						plasma membrane (GO:0005886)		p.G487E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323													g|||	225	0.0449281	0.1067	0.0101	5008	,	,		5566	0.0486		0.0189	False		,,,				2504	0.0092					ENST00000299443.5																			1	Substitution - Missense(1)	p.G487E(1)	prostate(1)	central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member D							9.0	15.0	13.0					21																	15011886		951	3208	4159	SO:0001583	missense	317754					plasma membrane		g.chr21:15011886G>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1460G>A	21.37:g.15011886G>A	ENSP00000299443:p.Gly487Glu						p.G487E	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			10	1512	+			487					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1460G>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.214319	0.00289	.	.	ENSG00000166351	ENST00000299443	T	0.23950	1.88	1.71	0.761	0.18448	.	.	.	.	.	T	0.11067	0.0270	L	0.40543	1.245	0.09310	N	1	P	0.41232	0.743	B	0.26693	0.072	T	0.20273	-1.0280	9	0.06099	T	0.92	.	4.2377	0.10634	0.2306:0.0:0.7694:0.0	.	487	Q86YR6	POTED_HUMAN	E	487	ENSP00000299443:G487E	ENSP00000299443:G487E	G	+	2	0	POTED	13933757	0.998000	0.40836	0.007000	0.13788	0.000000	0.00434	3.609000	0.54117	0.082000	0.17018	-0.489000	0.04712	GGA		0.323	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		3	30	0	0	0	1	0	3	30				
ZNF638	27332	broad.mit.edu	37	2	71582903	71582903	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:71582903C>A	ENST00000409544.1	+	3	2002	c.1372C>A	c.(1372-1374)Cgt>Agt	p.R458S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.R458S|ZNF638_ENST00000264447.4_Missense_Mutation_p.R458S|ZNF638_ENST00000355812.3_Missense_Mutation_p.R458S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	458					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCGACAGTTACGTCAACAGTA	0.284																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1372-1374)Cgt>Agt		zinc finger protein 638							48.0	44.0	45.0					2																	71582903		2199	4286	6485	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71582903C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1372C>A	2.37:g.71582903C>A	ENSP00000386433:p.Arg458Ser					ZNF638_ENST00000377802.2_Missense_Mutation_p.R458S|ZNF638_ENST00000355812.3_Missense_Mutation_p.R458S|ZNF638_ENST00000264447.4_Missense_Mutation_p.R458S|ZNF638_ENST00000410075.1_3'UTR	p.R458S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			3	2002	+			458					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1372C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040240	0.35989	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74421	-0.26;-0.84;0.3;-0.26;1.28;1.28	4.54	1.56	0.23342	.	0.136290	0.46145	U	0.000306	T	0.72120	0.3421	L	0.27053	0.805	0.31976	N	0.606542	D;D;D;D;D	0.71674	0.997;0.997;0.998;0.997;0.997	D;D;D;D;D	0.80764	0.986;0.986;0.994;0.987;0.986	T	0.71241	-0.4651	10	0.59425	D	0.04	-0.4073	4.3069	0.10951	0.1616:0.5903:0.1569:0.0913	.	564;458;458;458;458	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	S	458;564;458;458;458;458	ENSP00000386669:R458S;ENSP00000438189:R564S;ENSP00000348066:R458S;ENSP00000367033:R458S;ENSP00000264447:R458S;ENSP00000386433:R458S	ENSP00000264447:R458S	R	+	1	0	ZNF638	71436411	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	2.605000	0.46283	0.397000	0.25310	0.557000	0.71058	CGT		0.284	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		3	7	1	0	0.115264	1	0.117481	3	7				
THBS2	7058	broad.mit.edu	37	6	169626326	169626326	+	Silent	SNP	G	G	A	rs201464524	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:169626326G>A	ENST00000366787.3	-	17	2736	c.2487C>T	c.(2485-2487)gaC>gaT	p.D829D	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	829					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCCACACCGTCACCATCCG	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		16034	0.001		0.001	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2485-2487)gaC>gaT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	120.0	109.0	113.0		2487	-6.1	0.0	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS2	NM_003247.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		829/1173	169626326	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169626326G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2487C>T	6.37:g.169626326G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.D829D	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	17	2736	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	829					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2487C>T	CCDS34574.1																																																																																				0.542	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		46	49	0	0	0	1	0	46	49				
CYP2D7	1564	broad.mit.edu	37	22	42538732	42538732	+	RNA	SNP	C	C	A	rs562751309	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42538732C>A	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CACCCACCGGCTTGGTCGGCG	0.682													a|||	2	0.000399361	0.0	0.0	5008	,	,		13129	0.0		0.002	False		,,,				2504	0.0					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538732C>A																													22.37:g.42538732C>A						CYP2D7P1_ENST00000433992.1_RNA								0	587	-									RNA	SNP	ENST00000428786.1	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.57|11.57	1.677060|1.677060	0.29783|0.29783	.|.	.|.	ENSG00000205702|ENSG00000205702	ENST00000381321|ENST00000428297;ENST00000436260	.|.	.|.	.|.	3.16|3.16	0.949|0.949	0.19566|0.19566	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22589	.|0.0545	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.15052	.|0.012;0.005	.|T	.|0.27400	.|-1.0075	.|7	.|0.10636	.|T	.|0.68	.|.	10.0331|10.0331	0.42111|0.42111	0.3553:0.6447:0.0:0.0|0.3553:0.6447:0.0:0.0	rs4992865|rs4992865	.|168;78	.|Q6XP50;F5H167	.|.;.	.|S	-1|167;78	.|.	.|ENSP00000439033:A167S	.|A	-|-	.|1	.|0	CYP2D7P1|CYP2D7P1	40868676|40868676	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.187000|0.187000	0.16998|0.16998	0.039000|0.039000	0.15632|0.15632	-2.097000|-2.097000	0.00363|0.00363	.|GCC		0.682	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			4	1	1	0	0.0293803	1	0.0305325	4	1				
NPC2	10577	broad.mit.edu	37	14	74951225	74951225	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr14:74951225G>A	ENST00000555619.1	-	3	493	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000541064.1_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S|NPC2_ENST00000238633.2_Missense_Mutation_p.P86S	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	86			P -> L (in dbSNP:rs4688).		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		TCAGGAATGGGAAAGGGAACT	0.433																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000541064.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.(256-258)Ccc>Tcc		Niemann-Pick disease, type C2							156.0	146.0	150.0					14																	74951225		2203	4300	6503	SO:0001583	missense	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74951225G>A	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.256C>T	14.37:g.74951225G>A	ENSP00000451112:p.Pro86Ser					NPC2_ENST00000238633.2_Missense_Mutation_p.P86S|NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S|NPC2_ENST00000555619.1_Missense_Mutation_p.P86S	p.P86S			P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	3	262	-			86		P -> L (in dbSNP:rs4688).			B4DQV7|Q15668|Q29413	Missense_Mutation	SNP	ENST00000555619.1	37	c.256C>T	CCDS32121.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390049	0.82902	.	.	ENSG00000119655	ENST00000434013;ENST00000541064;ENST00000555619;ENST00000238633;ENST00000553490;ENST00000557510;ENST00000555592	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	6.07	2.05	0.26809	MD-2-related lipid-recognition (3);Immunoglobulin E-set (1);	0.333161	0.36815	N	0.002384	T	0.82051	0.4953	M	0.94021	3.485	0.54753	D	0.999984	P;P	0.50617	0.937;0.937	P;P	0.50590	0.548;0.645	T	0.79969	-0.1579	10	0.39692	T	0.17	-1.5164	7.5694	0.27898	0.062:0.2224:0.6005:0.1151	.	86;86	B4DQV7;P61916	.;NPC2_HUMAN	S	86	ENSP00000412103:P86S;ENSP00000442488:P86S;ENSP00000451112:P86S;ENSP00000238633:P86S;ENSP00000451180:P86S;ENSP00000451206:P86S;ENSP00000450887:P86S	ENSP00000238633:P86S	P	-	1	0	NPC2	74020978	1.000000	0.71417	0.931000	0.37212	0.987000	0.75469	3.297000	0.51810	0.405000	0.25532	0.655000	0.94253	CCC		0.433	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		37	52	0	0	0	1	0	37	52				
TTLL3	26140	broad.mit.edu	37	3	9874913	9874913	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:9874913G>T	ENST00000547186.1	+	11	1896	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	560					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTGACCCAGCGAGGCTCTG	0.647																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1678-1680)caG>caT		tubulin tyrosine ligase-like family, member 3							29.0	31.0	30.0					3																	9874913		1905	4110	6015	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9874913G>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1680G>T	3.37:g.9874913G>T	ENSP00000446659:p.Gln560His					TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron	p.Q560H	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			11	1896	+	Medulloblastoma(99;0.227)		560					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1680G>T		.	.	.	.	.	.	.	.	.	.	G	10.51	1.369925	0.24771	.	.	ENSG00000214021	ENST00000426895;ENST00000547186;ENST00000443148;ENST00000430793	T;T;T;T	0.06218	3.49;3.61;3.67;3.33	4.86	2.91	0.33838	.	24.809400	0.04817	U	0.436216	T	0.07593	0.0191	.	.	.	0.09310	N	1	P;B;B	0.36837	0.571;0.0;0.012	B;B;B	0.38056	0.264;0.002;0.004	T	0.36261	-0.9755	9	0.54805	T	0.06	.	7.7101	0.28673	0.093:0.0:0.7352:0.1718	.	499;348;560	B4DM47;Q9Y4R7-5;Q9Y4R7	.;.;TTLL3_HUMAN	H	703;560;498;348	ENSP00000392549:Q703H;ENSP00000446659:Q560H;ENSP00000398097:Q498H;ENSP00000403874:Q348H	ENSP00000392549:Q703H	Q	+	3	2	TTLL3	9849913	0.019000	0.18553	0.322000	0.25334	0.662000	0.39071	1.118000	0.31246	1.274000	0.44362	0.655000	0.94253	CAG		0.647	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		11	23	1	0	4.68919e-08	1	5.52282e-08	11	23				
FUCA1	2517	broad.mit.edu	37	1	24175172	24175172	+	Missense_Mutation	SNP	C	C	T	rs145603001		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:24175172C>T	ENST00000374479.3	-	6	1134	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	376					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CCATTGCACCCGCCATGGTTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18906	0.0		0.001	False		,,,				2504	0.0					ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(1126-1128)cGg>cAg		fucosidase, alpha-L- 1, tissue		C	GLN/ARG	0,4406		0,0,2203	116.0	97.0	103.0		1127	3.9	0.7	1	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FUCA1	NM_000147.4	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	376/467	24175172	3,13003	2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24175172C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1127G>A	1.37:g.24175172C>T	ENSP00000363603:p.Arg376Gln						p.R376Q	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	6	1134	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	376					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.1127G>A	CCDS244.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.17	2.755458	0.49362	0.0	3.49E-4	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.53206	0.63	4.85	3.94	0.45596	.	0.039432	0.85682	D	0.000000	T	0.55465	0.1922	M	0.92833	3.35	0.58432	D	0.999996	B	0.32010	0.351	B	0.25759	0.063	T	0.64466	-0.6401	10	0.54805	T	0.06	-11.619	13.2378	0.59979	0.0:0.9239:0.0:0.0761	.	376	P04066	FUCO_HUMAN	Q	376;165	ENSP00000363603:R376Q	ENSP00000363599:R165Q	R	-	2	0	FUCA1	24047759	0.998000	0.40836	0.723000	0.30687	0.413000	0.31143	5.598000	0.67585	1.408000	0.46895	0.644000	0.83932	CGG		0.478	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		10	20	0	0	0	1	0	10	20				
SREBF2	6721	broad.mit.edu	37	22	42299024	42299024	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42299024C>T	ENST00000361204.4	+	17	3124	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	MIR33A_ENST00000385197.1_RNA|SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	986					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGACAGCGCTCTGGCAAAAAC	0.657																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2956-2958)ctC>ctT		sterol regulatory element binding transcription factor 2							33.0	27.0	29.0					22																	42299024		2203	4299	6502	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42299024C>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2958C>T	22.37:g.42299024C>T						SREBF2_ENST00000491541.1_3'UTR	p.L986L	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			17	3124	+			986					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.2958C>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526289	0.13066	.	.	ENSG00000198911	ENST00000435061	.	.	.	5.65	0.928	0.19443	.	.	.	.	.	T	0.44222	0.1283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-13.1124	3.3458	0.07134	0.1065:0.3274:0.3976:0.1685	.	.	.	.	F	109	.	.	S	+	2	0	SREBF2	40628970	0.981000	0.34729	0.994000	0.49952	0.602000	0.36980	0.163000	0.16520	0.334000	0.23590	0.650000	0.86243	TCT		0.657	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		4	0	0	0	0	1	0	4	0				
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:142441037G>A	ENST00000521578.1	+	6	1360	c.415G>A	c.(415-417)Gga>Aga	p.G139R	PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000520105.1_Missense_Mutation_p.G114R|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(340-342)Gga>Aga		protein tyrosine phosphatase type IVA, member 3							105.0	89.0	94.0					8																	142441037		2201	4299	6500	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142441037G>A	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.415G>A	8.37:g.142441037G>A	ENSP00000428976:p.Gly139Arg					PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000521578.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R	p.G114R			O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		5	1283	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		139			Tyrosine-protein phosphatase.		Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.340G>A	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591797	0.86953	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.84516	-1.86;-0.21;-1.86;-0.21	4.49	4.49	0.54785	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.956	D	0.94915	0.8068	10	0.72032	D	0.01	-20.2394	16.2738	0.82634	0.0:0.0:1.0:0.0	.	114;139	O75365-2;O75365	.;TP4A3_HUMAN	R	139;114;139;114;53	ENSP00000428976:G139R;ENSP00000428758:G114R;ENSP00000332274:G139R;ENSP00000331730:G114R	ENSP00000332274:G139R	G	+	1	0	PTP4A3	142510219	1.000000	0.71417	0.838000	0.33150	0.745000	0.42441	9.383000	0.97214	2.506000	0.84524	0.555000	0.69702	GGA		0.597	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		15	17	0	0	0	1	0	15	17				
TONSL	4796	broad.mit.edu	37	8	145661426	145661426	+	Missense_Mutation	SNP	C	C	T	rs376067225		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:145661426C>T	ENST00000409379.3	-	17	2419	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	797					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCCACACCCCGGATGGCTGC	0.726																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2389-2391)cGg>cAg		tonsoku-like, DNA repair protein							7.0	10.0	9.0					8																	145661426		2155	4240	6395	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661426C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2390G>A	8.37:g.145661426C>T	ENSP00000386239:p.Arg797Gln					AC084125.4_ENST00000544423.1_RNA	p.R797Q	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			17	2419	-			797					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2390G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072184	0.55646	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53857	0.6	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000002	T	0.61924	0.2386	L	0.43152	1.355	0.33898	D	0.638143	D	0.89917	1.0	D	0.69654	0.965	T	0.68864	-0.5296	10	0.33141	T	0.24	-1.9754	14.0515	0.64739	0.0:1.0:0.0:0.0	.	797	Q96HA7	TONSL_HUMAN	Q	797;796	ENSP00000386239:R797Q	ENSP00000386239:R797Q	R	-	2	0	TONSL	145632234	0.000000	0.05858	0.785000	0.31869	0.946000	0.59487	0.467000	0.22035	2.158000	0.67659	0.456000	0.33151	CGG		0.726	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		11	2	0	0	0	1	0	11	2				
L1CAM	3897	broad.mit.edu	37	X	153131272	153131272	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:153131272G>A	ENST00000370060.1	-	20	2623	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S|L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S|L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	812					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCTGGGGGTCTGGAAAC	0.592																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2434-2436)Ccc>Tcc		L1 cell adhesion molecule							65.0	60.0	62.0					X																	153131272		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153131272G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2434C>T	X.37:g.153131272G>A	ENSP00000359077:p.Pro812Ser					L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S|L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S	p.P812S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			20	2623	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		812			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2434C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470453	0.43942	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.74526	-0.84;-0.85;-0.84;-0.84;-0.79;-0.79;-0.83	3.81	3.81	0.43845	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.113654	0.37577	N	0.002026	D	0.88901	0.6563	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91481	0.5204	10	0.87932	D	0	.	12.4702	0.55783	0.0:0.0:1.0:0.0	.	807;812;812	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	812;814;812;814;807;807;812	ENSP00000359077:P812S;ENSP00000438430:P814S;ENSP00000359074:P812S;ENSP00000439645:P814S;ENSP00000354712:P807S;ENSP00000359072:P807S;ENSP00000355380:P812S	ENSP00000355380:P812S	P	-	1	0	L1CAM	152784466	1.000000	0.71417	0.752000	0.31206	0.043000	0.13939	6.316000	0.72857	1.879000	0.54435	0.436000	0.28706	CCC		0.592	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		50	55	0	0	0	1	0	50	55				
CASQ1	844	broad.mit.edu	37	1	160168791	160168791	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:160168791C>A	ENST00000368078.3	+	9	1128	c.932C>A	c.(931-933)aCt>aAt	p.T311N	CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368079.3_Missense_Mutation_p.T305N			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGATAACACTGAAAACCCA	0.502																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(913-915)aCt>aAt		calsequestrin 1 (fast-twitch, skeletal muscle)							159.0	146.0	150.0					1																	160168791		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160168791C>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.932C>A	1.37:g.160168791C>A	ENSP00000357057:p.Thr311Asn					CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368078.3_Missense_Mutation_p.T311N	p.T305N	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1189	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		311					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.914C>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715162	0.68844	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.78481	-1.18;-1.18;-1.18	4.9	4.9	0.64082	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.53729	1.69	0.80722	D	1	B	0.32031	0.352	B	0.32928	0.155	T	0.72676	-0.4221	10	0.59425	D	0.04	.	16.999	0.86376	0.0:1.0:0.0:0.0	.	311	P31415	CASQ1_HUMAN	N	305;311;226;32	ENSP00000357058:T305N;ENSP00000357057:T311N;ENSP00000418051:T32N	ENSP00000357057:T311N	T	+	2	0	CASQ1	158435415	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	7.060000	0.76692	2.543000	0.85770	0.563000	0.77884	ACT		0.502	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		19	31	1	0	5.03518e-11	1	6.20616e-11	19	31				
AKR1C3	8644	broad.mit.edu	37	10	5144364	5144364	+	Silent	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:5144364T>C	ENST00000380554.3	+	6	1294	c.642T>C	c.(640-642)gtT>gtC	p.V214V	AKR1C3_ENST00000605149.1_Silent_p.V191V|AKR1C3_ENST00000439082.2_Silent_p.V95V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	214					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	TTGTTCTGGTTGCCTATAGTG	0.383																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(640-642)gtT>gtC		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						105.0	97.0	100.0					10																	5144364		2203	4300	6503	SO:0001819	synonymous_variant	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5144364T>C	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.642T>C	10.37:g.5144364T>C						AKR1C3_ENST00000605149.1_Silent_p.V191V|AKR1C3_ENST00000439082.2_Silent_p.V95V	p.V214V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			6	1294	+			214					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	c.642T>C	CCDS7063.1																																																																																				0.383	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		20	30	0	0	0	1	0	20	30				
WASH3P	374666	broad.mit.edu	37	15	102506314	102506314	+	RNA	SNP	C	C	G	rs188953685		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:102506314C>G	ENST00000557932.1	+	0	60							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CCTGGCAGGTCAGACCTATGC	0.647																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102506314C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506314C>G														0	60	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	C	10.65	1.409102	0.25378	.	.	ENSG00000185596	ENST00000338304;ENST00000398121;ENST00000378819	.	.	.	2.36	2.36	0.29203	.	0.000000	0.64402	U	0.000001	T	0.48732	0.1516	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58267	-0.7666	4	.	.	.	-3.2673	8.255	0.31751	0.0:1.0:0.0:0.0	.	.	.	.	E	27;13;13	.	.	Q	+	1	0	WASH3P	100323837	1.000000	0.71417	0.525000	0.27900	0.714000	0.41099	3.576000	0.53878	1.335000	0.45486	0.184000	0.17185	CAG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	6	0	0	0	1	0	3	6				
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:7578556T>G	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		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"""		46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-2	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	41.0					17																	7578556		2203	4300	6503	SO:0001630	splice_region_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.chr17:7578556T>G	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.376-2A>C	17.37:g.7578556T>G		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_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342862	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	23	3	0	0	0	1	0	23	3				
CYP2D7	1564	broad.mit.edu	37	22	42538733	42538733	+	RNA	SNP	T	T	G	rs529830136	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42538733T>G	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							ACCCACCGGCTTGGTCGGCGA	0.682													N|||	3	0.000599042	0.0	0.0	5008	,	,		12976	0.0		0.002	False		,,,				2504	0.001					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538733T>G																													22.37:g.42538733T>G						CYP2D7P1_ENST00000433992.1_RNA								0	586	-									RNA	SNP	ENST00000428786.1	37			.	.	.	.	.	.	.	.	.	.	G	11.92	1.782741	0.31502	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.16	-3.86	0.04230	.	.	.	.	.	T	0.11580	0.0282	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.28681	-1.0036	7	0.07482	T	0.82	.	0.6765	0.00867	0.2542:0.2307:0.3137:0.2014	rs4992864	167;77	Q6XP50;F5H167	.;.	H	166;116;77	.	ENSP00000446103:Q116H	Q	-	3	2	CYP2D7P1	40868677	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.787000	0.00769	-1.171000	0.02765	-2.439000	0.00212	CAA		0.682	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			4	1	0	0	0	1	0	4	1				
TRAPPC11	60684	broad.mit.edu	37	4	184606530	184606530	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:184606530T>G	ENST00000334690.6	+	17	1938	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	579					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATTTTCACAATAGGAGTACAG	0.408																																						ENST00000334690.6																			0											c.(1735-1737)aTa>aGa		trafficking protein particle complex 11							143.0	138.0	140.0					4																	184606530		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184606530T>G		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1736T>G	4.37:g.184606530T>G	ENSP00000335371:p.Ile579Arg					TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R	p.I579R	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			17	1938	+			579					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.1736T>G	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629430	0.87660	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.59	5.59	0.84812	.	0.076863	0.85682	D	0.000000	T	0.77391	0.4123	M	0.76328	2.33	0.80722	D	1	P;P;P	0.49783	0.928;0.667;0.853	P;P;P	0.60886	0.88;0.635;0.502	T	0.80236	-0.1466	9	0.87932	D	0	.	16.065	0.80865	0.0:0.0:0.0:1.0	.	185;579;579	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	R	579;579;579;185	.	ENSP00000335371:I579R	I	+	2	0	C4orf41	184843524	1.000000	0.71417	0.680000	0.29994	0.997000	0.91878	7.879000	0.87236	2.257000	0.74773	0.460000	0.39030	ATA		0.408	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		47	43	0	0	0	1	0	47	43				
MUC5AC	4586	broad.mit.edu	37	11	1155683	1155683	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr11:1155683G>A	ENST00000356191.2	+	5	369	c.369G>A	c.(367-369)ccG>ccA	p.P123P				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	1083	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.R124L(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CAGCTACGCCGCAGCCAGGAG	0.637																																						ENST00000356191.2																			1	Substitution - Missense(1)	p.R124L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(367-369)ccG>ccA		mucin 5AC, oligomeric mucus/gel-forming							24.0	24.0	24.0					11																	1155683		875	1987	2862	SO:0001819	synonymous_variant	4586							g.chr11:1155683G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.369G>A	11.37:g.1155683G>A							p.P123P						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	5	369	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.369G>A		.	.	.	.	.	.	.	.	.	.	G	16.87	3.242716	0.58995	.	.	ENSG00000215182	ENST00000534821	T	0.60424	0.19	3.42	3.42	0.39159	.	.	.	.	.	T	0.74038	0.3664	M	0.72576	2.205	.	.	.	D	0.89917	1.0	D	0.91635	0.999	T	0.81239	-0.1023	8	0.59425	D	0.04	.	15.4515	0.75277	0.0:0.0:1.0:0.0	.	124	A7Y9J9	.	H	124	ENSP00000435591:R124H	ENSP00000435591:R124H	R	+	2	0	MUC5AC	1145683	0.989000	0.36119	0.800000	0.32199	0.026000	0.11368	3.243000	0.51392	1.912000	0.55364	0.437000	0.28790	CGC		0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		27	2	0	0	0	1	0	27	2				
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:178921552A>C	ENST00000263967.3	+	5	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		5	Substitution - Missense(5)	p.N345I(4)|p.N345S(1)	endometrium(2)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aAt>aCt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	67.0					3																	178921552		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921552A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1034A>C	3.37:g.178921552A>C	ENSP00000263967:p.Asn345Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1191	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1034A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339775	0.81911	.	.	ENSG00000121879	ENST00000263967	T	0.70282	-0.47	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86915	0.2063	10	0.51188	T	0.08	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	T	345	ENSP00000263967:N345T	ENSP00000263967:N345T	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	16	0	0	0	1	0	19	16				
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(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)				ATGCATACAACGCACAGTGGA	0.408			"""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"""		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(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.(1393-1395)cGt>cAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253.0	218.0	230.0					4																	153249384		2203	4300	6503	SO:0001583	missense	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.chr4:153249384C>T	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.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His					FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			39	58	0	0	0	1	0	39	58				
BMF	90427	broad.mit.edu	37	15	40398008	40398008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:40398008G>A	ENST00000354670.4	-	3	514	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*|BMF_ENST00000558057.1_5'Flank|BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94*	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	94					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		TAAAAGAGTCGCTGGGGTTCC	0.577																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(280-282)Cga>Tga		Bcl2 modifying factor							83.0	92.0	89.0					15																	40398008		2203	4300	6503	SO:0001587	stop_gained	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40398008G>A	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.280C>T	15.37:g.40398008G>A	ENSP00000346697:p.Arg94*					BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*|BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94*	p.R94*	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	3	514	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	94					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Nonsense_Mutation	SNP	ENST00000354670.4	37	c.280C>T	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652038	0.88056	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415;ENST00000220446	.	.	.	5.12	3.15	0.36227	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8454	13.2382	0.59982	0.0:0.0:0.338:0.662	.	.	.	.	X	94	.	ENSP00000220446:R94X	R	-	1	2	BMF	38185300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.504000	0.45416	0.653000	0.30826	-0.397000	0.06425	CGA		0.577	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		50	71	0	0	0	1	0	50	71				
TAF5	6877	broad.mit.edu	37	10	105139460	105139460	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:105139460G>T	ENST00000369839.3	+	4	1232	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	TAF5_ENST00000351396.4_Missense_Mutation_p.K403N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	403	Poly-Lys.				chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTAAAAAGAAGAAGCCTAAAA	0.373																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1207-1209)aaG>aaT		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							73.0	67.0	69.0					10																	105139460		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105139460G>T	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1209G>T	10.37:g.105139460G>T	ENSP00000358854:p.Lys403Asn					TAF5_ENST00000351396.4_Missense_Mutation_p.K403N	p.K403N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	4	1232	+		Colorectal(252;0.0747)|Breast(234;0.128)	403			Poly-Lys.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1209G>T	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759501	0.69763	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60797	0.47;0.16	5.64	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.73861	-0.3849	10	0.41790	T	0.15	-13.9209	7.9891	0.30229	0.2681:0.0:0.7319:0.0	.	403;403	Q15542-2;Q15542	.;TAF5_HUMAN	N	403	ENSP00000358854:K403N;ENSP00000311024:K403N	ENSP00000311024:K403N	K	+	3	2	TAF5	105129450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.560000	0.45896	1.274000	0.44362	0.655000	0.94253	AAG		0.373	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			14	20	1	0	3.27435e-08	1	3.94411e-08	14	20				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	6	0	0	0	1	0	3	6				
C1QB	713	broad.mit.edu	37	1	22986093	22986093	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:22986093C>T	ENST00000314933.6	+	2	276	c.144C>T	c.(142-144)ggC>ggT	p.G48G	C1QB_ENST00000509305.1_Silent_p.G46G	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	48	Collagen-like 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGACACCTGGCCCCGATGGCC	0.602																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(136-138)ggC>ggT		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						32.0	33.0	33.0					1																	22986093		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986093C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.144C>T	1.37:g.22986093C>T						C1QB_ENST00000314933.6_Silent_p.G48G	p.G46G			P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	484	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	48			Collagen-like 1.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.138C>T	CCDS228.1																																																																																				0.602	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		9	14	0	0	0	1	0	9	14				
ZIC3	7547	broad.mit.edu	37	X	136649210	136649210	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:136649210C>A	ENST00000287538.5	+	1	910	c.360C>A	c.(358-360)ttC>ttA	p.F120L	ZIC3_ENST00000370606.3_Missense_Mutation_p.F120L|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	120					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGTTTCTGTTCCGCCAGCGCA	0.677																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(358-360)ttC>ttA		Zic family member 3							8.0	8.0	8.0					X																	136649210		2095	4055	6150	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649210C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.360C>A	X.37:g.136649210C>A	ENSP00000287538:p.Phe120Leu					ZIC3_ENST00000370606.3_Missense_Mutation_p.F120L	p.F120L	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	910	+	Acute lymphoblastic leukemia(192;0.000127)		120					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.360C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	9.532	1.111108	0.20714	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.51071	0.72;0.72	4.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.20986	0.625	0.51233	D	0.999912	B	0.14012	0.009	B	0.08055	0.003	T	0.05716	-1.0868	10	0.08837	T	0.75	.	7.2667	0.26234	0.0:0.7909:0.0:0.2091	.	120	O60481	ZIC3_HUMAN	L	120	ENSP00000287538:F120L;ENSP00000359638:F120L	ENSP00000287538:F120L	F	+	3	2	ZIC3	136476876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.906000	0.39887	0.895000	0.36342	0.597000	0.82753	TTC		0.677	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	2	1	0	0.00909568	1	0.00964142	4	2				
FAM230B	642633	broad.mit.edu	37	22	21538171	21538171	+	RNA	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:21538171G>A	ENST00000451257.1	+	0	1157									family with sequence similarity 230, member B (non-protein coding)																		CGAGGACGCCGCCCAGGGCAT	0.726																																						ENST00000451257.1																			0																																																			0							g.chr22:21538171G>A	BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538171G>A														0	1157	+									RNA	SNP	ENST00000451257.1	37																																																																																						0.726	FAM230B-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000320063.1	NR_108107		2	0	0	0	0	1	0	2	0				
MT-CO1	4512	broad.mit.edu	37	M	6121	6121	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrM:6121T>C	ENST00000361624.2	+	1	218	c.218T>C	c.(217-219)aTc>aCc	p.I73T	MT-ATP6_ENST00000361899.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TK_ENST00000387421.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-RNR2_ENST00000387347.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	73					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGTAATACCCATCATAATCGG	0.473																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(217-219)aTc>aCc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6121T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.218T>C	M.37:g.6121T>C	ENSP00000354499:p.Ile73Thr						p.73_73insT							1	218	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.218T>C																																																																																					0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		63	20	0	0	0	1	0	63	20				
ATP4A	495	broad.mit.edu	37	19	36046394	36046394	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr19:36046394G>A	ENST00000262623.3	-	14	2133	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCTGGTGCGCGCAAACACCAT	0.662																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2104-2106)gCg>gTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						34.0	35.0	34.0					19																	36046394		2203	4298	6501	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046394G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2105C>T	19.37:g.36046394G>A	ENSP00000262623:p.Ala702Val						p.A702V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2133	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		702					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2105C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783707	0.90282	.	.	ENSG00000105675	ENST00000262623	D	0.97772	-4.53	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.076402	0.49305	D	0.000144	D	0.99266	0.9744	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98548	1.0635	10	0.87932	D	0	.	15.5367	0.76007	0.0:0.0:1.0:0.0	.	702	P20648	ATP4A_HUMAN	V	702	ENSP00000262623:A702V	ENSP00000262623:A702V	A	-	2	0	ATP4A	40738234	1.000000	0.71417	0.897000	0.35233	0.826000	0.46750	9.657000	0.98554	2.537000	0.85549	0.462000	0.41574	GCG		0.662	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	163	0	0	0	1	0	5	163				
SERPINB2	5055	broad.mit.edu	37	18	61570285	61570285	+	Missense_Mutation	SNP	G	G	A	rs527405738		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr18:61570285G>A	ENST00000299502.4	+	8	1074	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A332T	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	332					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CATGGAGGACGCCTTCAACAA	0.463																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(994-996)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						132.0	110.0	117.0					18																	61570285		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570285G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.994G>A	18.37:g.61570285G>A	ENSP00000299502:p.Ala332Thr					SERPINB2_ENST00000299502.4_Missense_Mutation_p.A332T	p.A332T	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			9	1327	+		Esophageal squamous(42;0.131)	332					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.994G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870270	0.91587	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.85773	-2.03;-2.03	5.64	5.64	0.86602	Serpin domain (3);	0.049577	0.85682	D	0.000000	D	0.94345	0.8182	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94962	0.8109	10	0.72032	D	0.01	.	19.0463	0.93020	0.0:0.0:1.0:0.0	.	332	P05120	PAI2_HUMAN	T	332	ENSP00000299502:A332T;ENSP00000401645:A332T	ENSP00000299502:A332T	A	+	1	0	SERPINB2	59721265	1.000000	0.71417	0.993000	0.49108	0.512000	0.34134	6.691000	0.74573	2.812000	0.96745	0.557000	0.71058	GCC		0.463	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		22	33	0	0	0	1	0	22	33				
POTED	317754	broad.mit.edu	37	21	14982927	14982927	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:14982927C>T	ENST00000299443.5	+	1	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	126						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597																																						ENST00000299443.5																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(376-378)agC>agT		POTE ankyrin domain family, member D							35.0	54.0	50.0					21																	14982927		829	3156	3985	SO:0001819	synonymous_variant	317754					plasma membrane		g.chr21:14982927C>T	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.378C>T	21.37:g.14982927C>T							p.S126S	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			1	430	+			126					C9JCF7	Silent	SNP	ENST00000299443.5	37	c.378C>T	CCDS13562.1																																																																																				0.597	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		50	89	0	0	0	1	0	50	89				
ARHGEF10L	55160	broad.mit.edu	37	1	17944985	17944987	+	Intron	DEL	CCT	CCT	-	rs544006964	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:17944985_17944987delCCT	ENST00000361221.3	+	10	994				ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000375408.3_In_Frame_Del_p.S52del|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.S52del	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like							cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.68																																						ENST00000375408.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(136-141)ccc>c		Rho guanine nucleotide exchange factor (GEF) 10-like																																				SO:0001627	intron_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17944985_17944987delCCT	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.836-847CCT>-	1.37:g.17944994_17944996delCCT						ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.PS46del|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000375420.3_Intron	p.PS46del			Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	1	175_177	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	0					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	In_Frame_Del	DEL	ENST00000361221.3	37	c.137_139delCCT	CCDS182.1																																																																																				0.680	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	4						3	4	---	---	---	---
LOC101927648	101927648	broad.mit.edu	37	1	143412865	143412865	+	lincRNA	DEL	A	A	-	rs151060062		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:143412865delA	ENST00000423249.1	-	0	59																											aggctgacagaaggatggaca	0.413																																						ENST00000423249.1																			0																																																			0							g.chr1:143412865delA																													1.37:g.143412865delA														0	59	-									RNA	DEL	ENST00000423249.1	37																																																																																						0.413	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			2	4						2	4	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150933180	150933181	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:150933180_150933181delGT	ENST00000271640.5	+	16	2832_2833	c.2642_2643delGT	c.(2641-2643)agtfs	p.S881fs	SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	881	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGACAGCAGTGGTGTAGACT	0.475																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2641-2643)afs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933180_150933181delGT	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2642_2643delGT	1.37:g.150933180_150933181delGT	ENSP00000271640:p.Ser881fs					SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs|SETDB1_ENST00000459773.1_3'UTR	p.S881fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2832_2833	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		881			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Del	DEL	ENST00000271640.5	37	c.2642_2643delGT	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			28	47						28	47	---	---	---	---
SPRTN	83932	broad.mit.edu	37	1	231487057	231487057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:231487057delA	ENST00000295050.7	+	4	794	c.458delA	c.(457-459)catfs	p.H153fs	SPRTN_ENST00000391858.4_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	153	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										CAGGTATACCATACTTTTCAC	0.413																																						ENST00000391858.4																			0											c.(457-459)ctfs		SprT-like N-terminal domain							63.0	65.0	65.0					1																	231487057		2203	4300	6503	SO:0001589	frameshift_variant	83932							g.chr1:231487057delA	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.458delA	1.37:g.231487057delA	ENSP00000295050:p.His153fs					SPRTN_ENST00000295050.7_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs	p.H153fs							4	1738	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Frame_Shift_Del	DEL	ENST00000295050.7	37	c.458delA	CCDS1594.1																																																																																				0.413	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		19	64						19	64	---	---	---	---
AC010745.3	0	broad.mit.edu	37	2	16407935	16407935	+	lincRNA	DEL	T	T	-	rs78167150|rs367599777	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:16407935delT	ENST00000439745.1	-	0	830				AC010745.2_ENST00000420404.1_lincRNA																							CAGTCCCCCCTCTTCCCCAGT	0.557													T|T|-|deletion	1802	0.359824	0.3404	0.3646	5008	,	,		23291	0.3591		0.3559	False		,,,				2504	0.3875					ENST00000420404.1																			0																																																			0							g.chr2:16407935delT																													2.37:g.16407935delT														0	165	+									RNA	DEL	ENST00000439745.1	37																																																																																						0.557	AC010745.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323747.1			2	4						2	4	---	---	---	---
LOC100507073	100507073	broad.mit.edu	37	2	66926854	66926855	+	lincRNA	INS	-	-	A	rs535449125	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:66926854_66926855insA	ENST00000433432.1	-	0	594																											CACACTCAGGGAAAAAAAAAAA	0.337																																						ENST00000433432.1																			0																																																			0							g.chr2:66926854_66926855insA																													2.37:g.66926865_66926865dupA														0	594	-									RNA	INS	ENST00000433432.1	37																																																																																						0.337	AC007392.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000328221.1			2	4						2	4	---	---	---	---
AC010987.5	0	broad.mit.edu	37	2	67909275	67909276	+	lincRNA	INS	-	-	T	rs397768065|rs34056747	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:67909275_67909276insT	ENST00000419809.1	-	0	126																											TAAATAGTTGATTTTTTTTTGG	0.386													TTATTTTTTT|TTTTTTTTT|TTTTTTTTTT|complex_deletion	2979	0.594848	0.295	0.7248	5008	,	,		18837	0.7857		0.6223	False		,,,				2504	0.683					ENST00000419809.1																			0																																																			0							g.chr2:67909275_67909276insT																													2.37:g.67909284_67909284dupT														0	126	-									RNA	INS	ENST00000419809.1	37																																																																																						0.386	AC010987.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000326766.1			5	2						5	2	---	---	---	---
LOC101927701	101927701	broad.mit.edu	37	2	68023828	68023829	+	lincRNA	DEL	AC	AC	-	rs66751512|rs4671854|rs397736951	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:68023828_68023829delAC	ENST00000457448.1	-	0	180																											Tcacgcacatacacacacacac	0.436														3076	0.614217	0.5212	0.7118	5008	,	,		17108	0.4345		0.6799	False		,,,				2504	0.7883					ENST00000457448.1																			0																																																			0							g.chr2:68023828_68023829delAC																													2.37:g.68023838_68023839delAC														0	180	-									RNA	DEL	ENST00000457448.1	37																																																																																						0.436	AC010987.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000326402.1			3	5						3	5	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91875150	91875151	+	RNA	INS	-	-	A	rs368461251	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:91875150_91875151insA	ENST00000436174.1	-	0	1044																											AACCCAGACTGAAAAAAAAATG	0.455																																						ENST00000436174.1																			0																																																			0							g.chr2:91875150_91875151insA																													2.37:g.91875159_91875159dupA														0	1044	-									RNA	INS	ENST00000436174.1	37																																																																																						0.455	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			2	4						2	4	---	---	---	---
LINC01159	102682016	broad.mit.edu	37	2	105485400	105485400	+	RNA	DEL	G	G	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:105485400delG	ENST00000433433.1	-	0	207				AC018730.4_ENST00000454183.1_RNA|RP11-13J10.1_ENST00000598623.1_RNA|AC018730.3_ENST00000434764.1_RNA																							GGGTGAGGGTGGGGCAGGGAG	0.418																																						ENST00000433433.1																			0																																																			0							g.chr2:105485400delG																													2.37:g.105485400delG						RP11-13J10.1_ENST00000598623.1_RNA								0	207	-									RNA	DEL	ENST00000433433.1	37																																																																																						0.418	AC018730.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329325.1			2	4						2	4	---	---	---	---
AC097532.2	0	broad.mit.edu	37	2	133046597	133046597	+	lincRNA	DEL	A	A	-	rs199577408|rs111715068	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:133046597delA	ENST00000440802.1	-	0	101																											TCTGAGCTCGAGGCCCCCCAA	0.597																																						ENST00000440802.1																			0																																																			0							g.chr2:133046597delA																													2.37:g.133046597delA														0	101	-									RNA	DEL	ENST00000440802.1	37																																																																																						0.597	AC097532.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331805.1			4	4						4	4	---	---	---	---
RP11-141E13.1	0	broad.mit.edu	37	4	17032166	17032166	+	lincRNA	DEL	T	T	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:17032166delT	ENST00000511735.1	-	0	154																											TGGAAACTAGTTTTAATGCAC	0.463																																						ENST00000511735.1																			0																																																			0							g.chr4:17032166delT																													4.37:g.17032166delT														0	154	-									RNA	DEL	ENST00000511735.1	37																																																																																						0.463	RP11-141E13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359779.1			2	4						2	4	---	---	---	---
RP11-231C18.1	0	broad.mit.edu	37	4	55201975	55201975	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:55201975delA	ENST00000511634.1	+	0	43																											CAGGAACTCTAAAAGGGGGTG	0.458																																						ENST00000511634.1																			0																																																			0							g.chr4:55201975delA																													4.37:g.55201975delA														0	43	+									RNA	DEL	ENST00000511634.1	37																																																																																						0.458	RP11-231C18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361538.1			2	4						2	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67576381	67576382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr5:67576381_67576382insC	ENST00000521381.1	+	6	1276_1277	c.660_661insC	c.(661-663)cagfs	p.Q221fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.Q221fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.Q221fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.Q221fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	221	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAGAATATATTCAGCTATTGAA	0.351			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(658-663)atagctfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576381_67576382insC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.661dupC	5.37:g.67576382_67576382dupC	ENSP00000428056:p.Gln221fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A221fs	p.A221fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	6	1276_1277	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	221			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.660_661insC	CCDS3993.1																																																																																				0.351	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		104	90						104	90	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43976440	43976440	+	IGR	DEL	G	G	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:43976440delG	ENST00000336600.5	+	0	3581				RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223											central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CTCAGGCCCTGTGCACCTCTT	0.577																																						ENST00000422059.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr6:43976440delG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753		6.37:g.43976440delG														0	156	-								E9PB59|Q8N575	RNA	DEL	ENST00000336600.5	37		CCDS34459.1																																																																																				0.577	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		2	4						2	4	---	---	---	---
INHBA-AS1	285954	broad.mit.edu	37	7	41812982	41812983	+	RNA	INS	-	-	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr7:41812982_41812983insT	ENST00000415848.2	+	0	457					NR_027118.1				INHBA antisense RNA 1																		gccTACTGTCATTTTTTTATTC	0.46																																						ENST00000415848.2																			0																																																			0							g.chr7:41812982_41812983insT			7p14.1	2012-10-12	2012-08-15		ENSG00000224116	ENSG00000224116		"""Long non-coding RNAs"""	40303	non-coding RNA	RNA, long non-coding			"""INHBA antisense RNA 1 (non-protein coding)"""				Standard	NR_027118		Approved		uc003tht.4		OTTHUMG00000155114		7.37:g.41812989_41812989dupT								NR_027118.1						0	457	+									RNA	INS	ENST00000415848.2	37																																																																																						0.460	INHBA-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000338451.2	NR_027118		2	4						2	4	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	4						3	4	---	---	---	---
OR2A1-AS1	101928492	broad.mit.edu	37	7	144027120	144027121	+	RNA	INS	-	-	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr7:144027120_144027121insA	ENST00000463561.1	-	0	411				OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA					OR2A1 antisense RNA 1																		ccctgtctcagaaaaaaaaaaa	0.441																																						ENST00000463561.1																			0																																																			0							g.chr7:144027120_144027121insA	BC040701		7q35	2013-09-20			ENSG00000244479	ENSG00000244479		"""Long non-coding RNAs"""	49168	non-coding RNA	RNA, long non-coding							Standard	XR_242201		Approved				OTTHUMG00000158050		7.37:g.144027131_144027131dupA						RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA								0	411	-									RNA	INS	ENST00000463561.1	37																																																																																						0.441	OR2A1-AS1-007	KNOWN	basic	antisense	antisense	OTTHUMT00000350084.1			2	4						2	4	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	1047564	1047565	+	RNA	INS	-	-	C	rs377697295		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:1047564_1047565insC	ENST00000522092.1	+	0	332				ERICH1-AS1_ENST00000578889.1_RNA	NR_073397.1|NR_073466.1		P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GGAGCTGGGAGCCCGGGGCAGG	0.668																																						ENST00000522092.1																			0																																																			0							g.chr8:1047564_1047565insC	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.1047567_1047567dupC						ERICH1-AS1_ENST00000578889.1_RNA		NR_073397.1|NR_073466.1						0	332	+									RNA	INS	ENST00000522092.1	37																																																																																						0.668	ERICH1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000374623.1			2	4						2	4	---	---	---	---
RP11-124B13.1	0	broad.mit.edu	37	8	5921321	5921321	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:5921321delA	ENST00000519555.1	-	0	250																											gtggcagggtaggaggctaac	0.443																																						ENST00000519555.1																			0																																																			0							g.chr8:5921321delA																													8.37:g.5921321delA														0	250	-									RNA	DEL	ENST00000519555.1	37																																																																																						0.443	RP11-124B13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374528.1			2	4						2	4	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142485425	142485425	+	RNA	DEL	C	C	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:142485425delC	ENST00000430863.1	-	0	1749					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GGTGACTGTGCCCAGGAGCCA	0.617																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																						389690							g.chr8:142485425delC			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142485425delC								NM_207414.2	NP_997297.2					0	1749	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.617	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		2	4						2	4	---	---	---	---
LOC440896	440896	broad.mit.edu	37	9	70938998	70938998	+	lincRNA	DEL	A	A	-	rs56822289		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:70938998delA	ENST00000429953.2	+	0	1335																											GTGCCTCCCCACCTGCTATGG	0.706																																						ENST00000429953.2																			0																																																			0							g.chr9:70938998delA																													9.37:g.70938998delA														0	1335	+									RNA	DEL	ENST00000429953.2	37																																																																																						0.706	RP11-561O23.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052541.2			2	4						2	4	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135251330	135251330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:135251330delA	ENST00000334270.2	-	11	2729	c.2690delT	c.(2689-2691)ttgfs	p.L897fs	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	897					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttggcctcccaaagtactgga	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2689-2691)tgfs		transcription termination factor, RNA polymerase I							38.0	37.0	37.0					9																	135251330		2203	4300	6503	SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251330delA	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2690delT	9.37:g.135251330delA	ENSP00000333920:p.Leu897fs					TTF1_ENST00000461970.1_5'UTR	p.L897fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2729	-		Myeloproliferative disorder(178;0.204)	897					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Del	DEL	ENST00000334270.2	37	c.2690delT	CCDS6948.1																																																																																				0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	9						4	9	---	---	---	---
CCNYL2	414194	broad.mit.edu	37	10	42950275	42950275	+	RNA	DEL	C	C	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:42950275delC	ENST00000483242.3	-	0	623					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGCCACCCCTCCCCCACAGCT	0.647																																						ENST00000483242.3																			0				breast(2)|endometrium(1)|lung(3)|ovary(1)	7								cyclin Y-like 2																																						414194							g.chr10:42950275delC	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42950275delC								NR_103829.1						0	623	-									RNA	DEL	ENST00000483242.3	37																																																																																						0.647	CCNYL2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047670.5	XM_936368		2	4						2	4	---	---	---	---
RP11-25I9.2	0	broad.mit.edu	37	11	108901835	108901836	+	lincRNA	INS	-	-	AG			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr11:108901835_108901836insAG	ENST00000526041.1	-	0	225																											GGCTGGAGTGCTGGCTTCCTGC	0.545																																						ENST00000526041.1																			0																																																			0							g.chr11:108901835_108901836insAG																													11.37:g.108901835_108901836insAG														0	225	-									RNA	INS	ENST00000526041.1	37																																																																																						0.545	RP11-25I9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000390364.1			3	3						3	3	---	---	---	---
SRP14-AS1	100131089	broad.mit.edu	37	15	40342650	40342651	+	lincRNA	INS	-	-	TG	rs144723878		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:40342650_40342651insTG	ENST00000504245.1	+	0	247					NR_040060.1				SRP14 antisense RNA1 (head to head)																		GGTCTAGCCCTtgtgtgtgtgt	0.54																																						ENST00000504245.1																			0																																																			0							g.chr15:40342650_40342651insTG			15q15.1	2013-05-24			ENSG00000248508	ENSG00000248508		"""Long non-coding RNAs"""	48619	non-coding RNA	RNA, long non-coding							Standard	NR_040059		Approved				OTTHUMG00000172392		15.37:g.40342659_40342660dupTG								NR_040060.1						0	247	+									RNA	INS	ENST00000504245.1	37																																																																																						0.540	SRP14-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000418269.1			2	4						2	4	---	---	---	---
WASH4P	374677	broad.mit.edu	37	16	70942	70942	+	5'Flank	DEL	G	G	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr16:70942delG	ENST00000326592.9	-	0	0				WASIR2_ENST00000527434.1_RNA|Z84812.4_ENST00000568710.1_RNA|WASIR2_ENST00000329244.5_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ccgtgggtgtgggaccctccg	0.572																																						ENST00000568710.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:70942delG			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914		16.37:g.70942delG	Exception_encountered													0	434	-									RNA	DEL	ENST00000326592.9	37																																																																																						0.572	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		2	4						2	4	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10968825	10968826	+	5'Flank	INS	-	-	T	rs376754614|rs536808496		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr16:10968825_10968826insT	ENST00000324288.8	+	0	0				RP11-876N24.2_ENST00000572017.1_RNA|RP11-876N24.2_ENST00000573071.1_RNA|CIITA_ENST00000381835.5_5'Flank	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator						aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAAtttctttctttttttttct	0.49			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000572017.1				Dom	yes		16	16p13	4261		"""class II, major histocompatibility complex, transactivator"""			L					0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:10968825_10968826insT	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753		16.37:g.10968834_10968834dupT	Exception_encountered													0	438	-								A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	RNA	INS	ENST00000324288.8	37		CCDS10544.1																																																																																				0.490	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		2	4						2	4	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32833858	32833859	+	lincRNA	INS	-	-	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr16:32833858_32833859insA	ENST00000569859.1	+	0	373																											tccttctttttctttctttgtt	0.342																																						ENST00000569859.1																			0																																																			0							g.chr16:32833858_32833859insA																													16.37:g.32833858_32833859insA														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.342	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			2	4						2	4	---	---	---	---
RP11-23E10.3	0	broad.mit.edu	37	16	33337174	33337174	+	lincRNA	DEL	G	G	-	rs138120371		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr16:33337174delG	ENST00000567464.1	-	0	212																											ctggacaacagggtgaaactc	0.532																																						ENST00000567464.1																			0																																																			0							g.chr16:33337174delG																													16.37:g.33337174delG														0	212	-									RNA	DEL	ENST00000567464.1	37																																																																																						0.532	RP11-23E10.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432130.1			2	4						2	4	---	---	---	---
RP11-467L24.1	0	broad.mit.edu	37	16	64566952	64566952	+	lincRNA	DEL	C	C	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr16:64566952delC	ENST00000564046.1	+	0	354																											GCCGGCTCCTCAATGCCCTCA	0.488																																						ENST00000564046.1																			0																																																			0							g.chr16:64566952delC																													16.37:g.64566952delC														0	354	+									RNA	DEL	ENST00000564046.1	37																																																																																						0.488	RP11-467L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420524.2			2	4						2	4	---	---	---	---
ZNF830	91603	broad.mit.edu	37	17	33289163	33289164	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:33289163_33289164delCA	ENST00000361952.3	+	1	615_616	c.578_579delCA	c.(577-579)tcafs	p.S193fs	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	193					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAGGAGCACTCAGTTTCCTCTT	0.525																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(577-579)tfs		zinc finger protein 830																																				SO:0001589	frameshift_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289163_33289164delCA	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.578_579delCA	17.37:g.33289163_33289164delCA	ENSP00000354518:p.Ser193fs						p.S193fs	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	615_616	+		Ovarian(249;0.17)	193					Q96F60|Q96GZ5|Q9BU38	Frame_Shift_Del	DEL	ENST00000361952.3	37	c.578_579delCA	CCDS32618.1																																																																																				0.525	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		22	23						22	23	---	---	---	---
RP11-101O21.1	0	broad.mit.edu	37	17	72109854	72109854	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:72109854delG	ENST00000584003.1	-	0	258																											cgcagcctgagggagccggct	0.716																																						ENST00000584003.1																			0																																																			0							g.chr17:72109854delG																													17.37:g.72109854delG														0	258	-									RNA	DEL	ENST00000584003.1	37																																																																																						0.716	RP11-101O21.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442530.1			2	4						2	4	---	---	---	---
LOC284395	284395	broad.mit.edu	37	19	29783808	29783808	+	RNA	DEL	A	A	-	rs397727139|rs11309855	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr19:29783808delA	ENST00000582581.1	-	0	2030					NR_040029.1																						gaatgatgagaaaaaaatagc	0.498													AAAAAA|AAAAAAA|AAAAAA|insertion	3701	0.739018	0.913	0.6354	5008	,	,		20132	0.8274		0.5358	False		,,,				2504	0.6953					ENST00000582581.1																			0																																																			0							g.chr19:29783808delA																													19.37:g.29783808delA								NR_040029.1						0	2030	-									RNA	DEL	ENST00000582581.1	37																																																																																						0.498	CTC-525D6.1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000444111.1			12	1						12	1	---	---	---	---
CTD-2050I18.1	0	broad.mit.edu	37	19	32043171	32043174	+	lincRNA	DEL	TGAC	TGAC	-	rs10555080|rs398120950|rs72397229	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr19:32043171_32043174delTGAC	ENST00000593063.1	+	0	345																											gcttcaaatatgactttaagccta	0.431														1195	0.238618	0.2852	0.2349	5008	,	,		19908	0.0942		0.3559	False		,,,				2504	0.2065					ENST00000593063.1																			0																																																			0							g.chr19:32043171_32043174delTGAC																													19.37:g.32043171_32043174delTGAC														0	345	+									RNA	DEL	ENST00000593063.1	37																																																																																						0.431	CTD-2050I18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000450339.1			6	1						6	1	---	---	---	---
SNAP25-AS1	100131208	broad.mit.edu	37	20	10348858	10348859	+	RNA	INS	-	-	T	rs573927314|rs36051965|rs397865808	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:10348858_10348859insT	ENST00000421143.2	-	0	5				SNAP25-AS1_ENST00000453544.1_RNA					SNAP25 antisense RNA 1																		TAGGttttttgtttttttttta	0.45																																						ENST00000421143.2																			0																																																			0							g.chr20:10348858_10348859insT	AK124961, BF244758, DA318406		20p12.2	2012-10-12	2012-08-15		ENSG00000227906	ENSG00000227906		"""Long non-coding RNAs"""	44312	non-coding RNA	RNA, long non-coding			"""SNAP25 antisense RNA 1 (non-protein coding)"""				Standard	NR_040710		Approved		uc002wnn.2		OTTHUMG00000031867		20.37:g.10348868_10348868dupT						SNAP25-AS1_ENST00000453544.1_RNA								0	5	-									RNA	INS	ENST00000421143.2	37																																																																																						0.450	SNAP25-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000077988.2	NR_040710		3	5						3	5	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10653632	10653635	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:10653632_10653635delAACT	ENST00000254958.5	-	2	616_619	c.101_104delAGTT	c.(100-105)cagttcfs	p.QF34fs	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	34					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTCCAACTCGAACTGACCCGAGGC	0.642									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(100-105)ccfs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653632_10653635delAACT	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.101_104delAGTT	20.37:g.10653632_10653635delAACT	ENSP00000254958:p.Gln34fs					RP11-103J8.1_ENST00000605292.1_RNA	p.QF34fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			2	616_619	-			34					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Del	DEL	ENST00000254958.5	37	c.101_104delAGTT	CCDS13112.1																																																																																				0.642	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		22	62						22	62	---	---	---	---
FLJ33581	400839	broad.mit.edu	37	20	24189152	24189153	+	lincRNA	DEL	GT	GT	-	rs141293309	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:24189152_24189153delGT	ENST00000457274.1	+	0	68					NR_040102.1																						gtgtgcgtgcgtgtgtgtttgt	0.515														205	0.0409345	0.1142	0.0187	5008	,	,		30566	0.0		0.0199	False		,,,				2504	0.0215					ENST00000457274.1																			0																																																			0							g.chr20:24189152_24189153delGT																													20.37:g.24189158_24189159delGT								NR_040102.1						0	68	+									RNA	DEL	ENST00000457274.1	37																																																																																						0.515	RP5-1100I6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078370.1			3	6						3	6	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29595625	29595625	+	RNA	DEL	T	T	-	rs111897002		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:29595625delT	ENST00000432067.1	-	0	74																											TGTAAAAAAATCACAGGATCC	0.408																																						ENST00000432067.1																			0																																																			0							g.chr20:29595625delT																													20.37:g.29595625delT														0	74	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.408	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11039939	11039941	+	RNA	DEL	GTT	GTT	-	rs58180036		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:11039939_11039941delGTT	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGATATAATCGTTGTTCTTCATC	0.32																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039939_11039941delGTT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039942_11039944delGTT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.320	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	4						4	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11056529	11056530	+	RNA	DEL	GA	GA	-	rs374838841		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:11056529_11056530delGA	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtatttttatgagtctccataa	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11056529_11056530delGA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11056529_11056530delGA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
