#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
PPFIA3	8541	broad.mit.edu	37	19	49633700	49633700	+	Silent	SNP	C	C	T	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15678	0.0		0.0	False		,,,				2504	0.0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(721-723)gcC>gcT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3		C		17,4343		0,17,2163	12.0	14.0	13.0		723	-1.0	1.0	19	dbSNP_134	13	0,8562		0,0,4281	no	coding-synonymous	PPFIA3	NM_003660.2		0,17,6444	TT,TC,CC		0.0,0.3899,0.1316		241/1195	49633700	17,12905	2180	4281	6461	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49633700C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.723C>T	19.37:g.49633700C>T						PPFIA3_ENST00000602351.1_Silent_p.A241A	p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	7	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	241					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.723C>T	CCDS12758.1																																																																																				0.687	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	11	0	0	0	1	0	4	11				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		37	91	0	0	0	1	0	37	91				
TP63	8626	broad.mit.edu	37	3	189349247	189349247	+	De_novo_Start_OutOfFrame	SNP	A	A	T	rs28673064	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame|TP63_ENST00000320472.5_5'Flank|TP63_ENST00000440651.2_5'Flank|TP63_ENST00000392460.3_5'Flank|TP63_ENST00000418709.2_5'Flank	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368										HNSCC(45;0.13)			A|||	2442	0.48762	0.3865	0.3458	5008	,	,		17938	0.7361		0.4712	False		,,,				2504	0.4857					ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61								tumor protein p63		A	,,	551,833		105,341,246	37.0	34.0	35.0		,,	5.7	1.0	3	dbSNP_125	35	1542,1640		368,806,417	no	utr-5,utr-5,utr-5	TP63	NM_001114978.1,NM_001114979.1,NM_003722.4	,,	473,1147,663	TT,TA,AA		48.4601,39.8121,45.8388	,,	,,	189349247	2093,2473	692	1591	2283			8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349247A>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.-58A>T	3.37:g.189349247A>T		HNSCC(45;0.13)				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	0	32	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Translation_Start_Site	SNP	ENST00000264731.3	37		CCDS3293.1																																																																																				0.368	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		5	69	0	0	0	1	0	5	69				
OLFM1	10439	broad.mit.edu	37	9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000371793.3	+	6	1110	c.859G>A	c.(859-861)Gac>Aac	p.D287N	OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000252854.4_Missense_Mutation_p.D269N	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(805-807)Gac>Aac		olfactomedin 1							133.0	119.0	124.0					9																	138011425		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011425G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.859G>A	9.37:g.138011425G>A	ENSP00000360858:p.Asp287Asn					OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	p.D269N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	992	+		Myeloproliferative disorder(178;0.0333)	287			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.805G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.359909	0.82353	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	L	0.27053	0.805	0.80722	D	1	D;P	0.76494	0.999;0.891	D;P	0.72338	0.977;0.698	D	0.89371	0.3675	10	0.30078	T	0.28	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	287;269	Q99784;Q6IMJ8	NOE1_HUMAN;.	N	269;260;287;184	ENSP00000252854:D269N;ENSP00000360861:D260N;ENSP00000360858:D287N;ENSP00000443806:D184N	ENSP00000252854:D269N	D	+	1	0	OLFM1	137151246	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GAC		0.547	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		32	60	0	0	0	1	0	32	60				
MOXD1	26002	broad.mit.edu	37	6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A	rs371584683		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(130-132)Cgg>Tgg		monooxygenase, DBH-like 1		G	TRP/ARG	1,4085		0,1,2042	11.0	10.0	10.0		130	0.0	0.9	6		10	0,8088		0,0,4044	no	missense	MOXD1	NM_015529.2	101	0,1,6086	AA,AG,GG		0.0,0.0245,0.0082	possibly-damaging	44/614	132722436	1,12173	2043	4044	6087	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722436G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.130C>T	6.37:g.132722436G>A	ENSP00000356940:p.Arg44Trp					MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	248	-	Breast(56;0.0495)		44			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.130C>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381973	0.42207	2.45E-4	0.0	ENSG00000079931	ENST00000367963;ENST00000392401	T;T	0.77229	-1.08;-1.08	4.24	0.0084	0.14074	DOMON domain (3);	0.489617	0.19770	N	0.106461	T	0.69637	0.3133	L	0.59436	1.845	0.28108	N	0.931126	D	0.58620	0.983	P	0.53185	0.72	T	0.67031	-0.5773	10	0.87932	D	0	-32.154	11.5367	0.50641	0.0:0.2084:0.5763:0.2153	.	44	Q6UVY6	MOXD1_HUMAN	W	44	ENSP00000356940:R44W;ENSP00000376202:R44W	ENSP00000356940:R44W	R	-	1	2	MOXD1	132764129	0.096000	0.21769	0.949000	0.38748	0.355000	0.29361	1.107000	0.31110	0.045000	0.15804	-3.098000	0.00064	CGG		0.731	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		3	15	0	0	0	1	0	3	15				
REV1	51455	broad.mit.edu	37	2	100055181	100055181	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1093-1095)aaG>aaA	Direct reversal of damage	REV1, polymerase (DNA directed)							104.0	108.0	107.0					2																	100055181		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055181C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1095G>A	2.37:g.100055181C>T						REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			6	1323	-			365					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.1095G>A	CCDS2045.1																																																																																				0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		18	137	0	0	0	1	0	18	137				
CADPS	8618	broad.mit.edu	37	3	62648047	62648047	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:62648047G>T	ENST00000383710.4	-	4	1260	c.911C>A	c.(910-912)gCa>gAa	p.A304E	CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E|CADPS_ENST00000490353.2_Missense_Mutation_p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	304					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GATCTGGGCTGCTTGCTCATC	0.473																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(910-912)gCa>gAa		Ca++-dependent secretion activator							156.0	127.0	137.0					3																	62648047		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62648047G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.911C>A	3.37:g.62648047G>T	ENSP00000373215:p.Ala304Glu					CADPS_ENST00000490353.2_Missense_Mutation_p.A304E|CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E	p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	4	1260	-		Lung SC(41;0.0452)	304					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.911C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035228	0.93630	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.97110	1.0;0.991;0.994	D	0.93708	0.7021	10	0.87932	D	0	.	18.2514	0.90005	0.0:0.0:1.0:0.0	.	304;304;304	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	E	304	ENSP00000373215:A304E;ENSP00000350632:A304E;ENSP00000283269:A304E;ENSP00000418736:A304E	ENSP00000283269:A304E	A	-	2	0	CADPS	62623087	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.977000	0.93446	2.606000	0.88127	0.655000	0.94253	GCA		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		9	58	1	0	1.12685e-05	1	1.29212e-05	9	58				
TELO2	9894	broad.mit.edu	37	16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2113-2115)Cag>Tag		telomere maintenance 2							86.0	90.0	89.0					16																	1556317		2199	4300	6499	SO:0001587	stop_gained	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556317C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2113C>T	16.37:g.1556317C>T	ENSP00000262319:p.Gln705*					TELO2_ENST00000564507.1_3'UTR	p.Q705*	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			17	2392	+		Hepatocellular(780;0.219)	705					D3DU73|O75168|Q7LDV4|Q9BR21	Nonsense_Mutation	SNP	ENST00000262319.6	37	c.2113C>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374649	0.95923	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	.	.	.	4.32	2.25	0.28309	.	0.164454	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-11.9493	8.4149	0.32666	0.0:0.755:0.1549:0.0901	.	.	.	.	X	228;705	.	ENSP00000262319:Q705X	Q	+	1	0	TELO2	1496318	0.026000	0.19158	0.201000	0.23476	0.128000	0.20619	1.657000	0.37366	0.815000	0.34398	0.462000	0.41574	CAG		0.637	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		10	82	0	0	0	1	0	10	82				
ABCA5	23461	broad.mit.edu	37	17	67300891	67300891	+	Silent	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGTCGCAATGACTGCCATAA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(847-849)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 5							72.0	73.0	73.0					17																	67300891		2203	4294	6497	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300891G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.849C>G	17.37:g.67300891G>C						ABCA5_ENST00000392677.2_Silent_p.V283V|ABCA5_ENST00000588877.1_Silent_p.V283V	p.V283V			Q8WWZ7	ABCA5_HUMAN			7	913	-	Breast(10;3.72e-11)		283					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.849C>G	CCDS11685.1																																																																																				0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	73	0	0	0	1	0	13	73				
CCKAR	886	broad.mit.edu	37	4	26491054	26491054	+	Silent	SNP	G	G	A	rs143718810		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:26491054G>A	ENST00000295589.3	-	2	359	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	55					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCCCAGCACGCTGAGCAGGA	0.567																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(163-165)agC>agT		cholecystokinin A receptor	Ceruletide(DB00403)	G		1,4405	2.1+/-5.4	0,1,2202	119.0	112.0	114.0		165	0.3	1.0	4	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	CCKAR	NM_000730.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		55/429	26491054	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491054G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.165C>T	4.37:g.26491054G>A							p.S55S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			2	359	-		Breast(46;0.0503)	55					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.165C>T	CCDS3438.1																																																																																				0.567	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			30	77	0	0	0	1	0	30	77				
ABCA5	23461	broad.mit.edu	37	17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACTTACAGATGATAATCCATA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(925-927)tCa>tTa		ATP-binding cassette, sub-family A (ABC1), member 5							33.0	32.0	32.0					17																	67300814		2202	4296	6498	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300814G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.926C>T	17.37:g.67300814G>A	ENSP00000376443:p.Ser309Leu					ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L	p.S309L			Q8WWZ7	ABCA5_HUMAN			7	990	-	Breast(10;3.72e-11)		309					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.926C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051192	0.93740	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88741	-2.42;-2.42	5.13	5.13	0.70059	.	0.238434	0.29775	N	0.011224	D	0.95284	0.8470	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95562	0.8630	9	.	.	.	.	18.6555	0.91452	0.0:0.0:1.0:0.0	.	309;309	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	309	ENSP00000376444:S309L;ENSP00000376443:S309L	.	S	-	2	0	ABCA5	64812409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.884000	0.75600	2.381000	0.81170	0.558000	0.71614	TCA		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		5	34	0	0	0	1	0	5	34				
SNW1	22938	broad.mit.edu	37	14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(361-363)Cca>Tca		SNW domain containing 1							244.0	255.0	251.0					14																	78205374		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205374G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.361C>T	14.37:g.78205374G>A	ENSP00000261531:p.Pro121Ser					SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S	p.P121S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	4	423	-			121					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.361C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689194	0.88735	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.02	P;B	0.45856	0.495;0.007	T	0.81064	-0.1102	9	0.66056	D	0.02	.	19.6779	0.95945	0.0:0.0:1.0:0.0	.	121;121	G3V3A4;Q13573	.;SNW1_HUMAN	S	121	.	ENSP00000261531:P121S	P	-	1	0	SNW1	77275127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.656000	0.90262	0.460000	0.39030	CCA		0.383	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		30	346	0	0	0	1	0	30	346				
PGLYRP2	114770	broad.mit.edu	37	19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000340880.4	-	2	1013	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P178Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(532-534)cCa>cAa		peptidoglycan recognition protein 2							127.0	114.0	118.0					19																	15586948		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586948G>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.533C>A	19.37:g.15586948G>T	ENSP00000345968:p.Pro178Gln					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q	p.P178Q			Q96PD5	PGRP2_HUMAN			2	662	-			178					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.533C>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322973	0.41096	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06294	3.33;3.32	4.11	1.83	0.25207	.	0.165536	0.28354	N	0.015645	T	0.14013	0.0339	M	0.62723	1.935	0.09310	N	1	D;D	0.63880	0.993;0.966	P;P	0.60682	0.878;0.641	T	0.03344	-1.1046	10	0.66056	D	0.02	.	5.1013	0.14760	0.1128:0.0:0.6852:0.2021	.	178;178	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	178	ENSP00000345968:P178Q;ENSP00000292609:P178Q	ENSP00000292609:P178Q	P	-	2	0	PGLYRP2	15447948	0.000000	0.05858	0.019000	0.16419	0.024000	0.10985	0.102000	0.15272	0.730000	0.32425	-0.251000	0.11542	CCA		0.542	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		7	127	1	0	0.00198382	1	0.0021326	7	127				
CENPE	1062	broad.mit.edu	37	4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7747-7749)gaG>gaT		centromere protein E, 312kDa							77.0	76.0	77.0					4																	104030222		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030222C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7749G>T	4.37:g.104030222C>A	ENSP00000265148:p.Glu2583Asp					CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	p.E2583D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7838	-			2583			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7749G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557457	0.65425	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.71461	-0.57;-0.55	4.95	1.78	0.24846	.	.	.	.	.	T	0.77025	0.4070	L	0.56769	1.78	0.25008	N	0.991422	D;D	0.76494	0.999;0.996	D;P	0.80764	0.994;0.836	T	0.62402	-0.6862	9	0.51188	T	0.08	.	5.2179	0.15352	0.0:0.5687:0.0:0.4313	.	2462;2583	Q02224-3;Q02224	.;CENPE_HUMAN	D	2583;2462	ENSP00000265148:E2583D;ENSP00000369365:E2462D	ENSP00000265148:E2583D	E	-	3	2	CENPE	104249671	0.108000	0.22018	0.518000	0.27811	0.994000	0.84299	-0.136000	0.10405	0.507000	0.28148	0.655000	0.94253	GAG		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	65	1	0	0.014758	1	0.0149316	4	65				
SCNN1B	6338	broad.mit.edu	37	16	23364121	23364121	+	Splice_Site	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e3-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						78.0	77.0	78.0					16																	23364121		2197	4300	6497	SO:0001630	splice_region_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364121G>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.312-1G>T	16.37:g.23364121G>T						SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site		NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	487	+								C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37		CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381879	0.61845	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9864	0.86340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23271622	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.199000	0.72112	2.220000	0.72140	0.462000	0.41574	.		0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Intron	8	104	1	0	0.00621372	1	0.00636166	8	104				
FREM2	341640	broad.mit.edu	37	13	39433450	39433450	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:39433450C>T	ENST00000280481.7	+	14	7458	c.7242C>T	c.(7240-7242)taC>taT	p.Y2414Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2414					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGACTACGATAAAACAG	0.498																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7240-7242)taC>taT		FRAS1 related extracellular matrix protein 2							141.0	123.0	129.0					13																	39433450		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433450C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7242C>T	13.37:g.39433450C>T							p.Y2414Y	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7458	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2414					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7242C>T	CCDS31960.1																																																																																				0.498	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		17	105	0	0	0	1	0	17	105				
PDIA2	64714	broad.mit.edu	37	16	335185	335185	+	Silent	SNP	G	G	A	rs45503892	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:335185G>A	ENST00000219406.6	+	5	798	c.780G>A	c.(778-780)acG>acA	p.T260T	PDIA2_ENST00000404312.1_Silent_p.T257T|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	260					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCTGGTCACGGAGTTCAACA	0.662													g|||	8	0.00159744	0.0	0.0	5008	,	,		14604	0.0		0.006	False		,,,				2504	0.002					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(778-780)acG>acA		protein disulfide isomerase family A, member 2				5,4213		0,5,2104	31.0	34.0	33.0		780	-8.0	0.9	16	dbSNP_127	33	57,8377		1,55,4161	no	coding-synonymous	PDIA2	NM_006849.2		1,60,6265	AA,AG,GG		0.6758,0.1185,0.49		260/526	335185	62,12590	2109	4217	6326	SO:0001819	synonymous_variant	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335185G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.780G>A	16.37:g.335185G>A						PDIA2_ENST00000404312.1_Silent_p.T257T|PDIA2_ENST00000462950.1_3'UTR	p.T260T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			5	798	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	260					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	c.780G>A	CCDS42089.1																																																																																				0.662	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		3	39	0	0	0	1	0	3	39				
KIAA1683	80726	broad.mit.edu	37	19	18377363	18377363	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:18377363T>C	ENST00000600328.3	-	3	1180	c.987A>G	c.(985-987)atA>atG	p.I329M	KIAA1683_ENST00000392413.4_Missense_Mutation_p.I329M|KIAA1683_ENST00000600359.3_Missense_Mutation_p.I283M			Q9H0B3	K1683_HUMAN	KIAA1683	329						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCTGGACATATCTGGAAGG	0.567																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(985-987)atA>atG		KIAA1683							69.0	70.0	70.0					19																	18377363		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377363T>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.987A>G	19.37:g.18377363T>C	ENSP00000470780:p.Ile329Met					KIAA1683_ENST00000600328.2_Missense_Mutation_p.I329M|KIAA1683_ENST00000600359.2_Missense_Mutation_p.I283M	p.I329M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1202	-			329					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.987A>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	8.463	0.855687	0.17106	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03689	3.93;3.92;3.84	4.04	-8.06	0.01102	.	1.271530	0.05792	N	0.610578	T	0.01523	0.0049	N	0.04508	-0.205	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.14023	0.01;0.007	T	0.47995	-0.9073	10	0.51188	T	0.08	-1.0233	3.0473	0.06158	0.2468:0.4693:0.1251:0.1589	.	329;329	E9PDE0;Q9H0B3	.;K1683_HUMAN	M	329;329;283;328	ENSP00000376213:I329M;ENSP00000352774:I329M;ENSP00000404501:I283M	ENSP00000351198:I328M	I	-	3	3	KIAA1683	18238363	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.852000	0.01667	-1.513000	0.01789	-1.098000	0.02139	ATA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			49	62	0	0	0	1	0	49	62				
EPHA3	2042	broad.mit.edu	37	3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1726-1728)gCa>gAa		EPH receptor A3							224.0	219.0	220.0					3																	89457246		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457246C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1727C>A	3.37:g.89457246C>A	ENSP00000337451:p.Ala576Glu	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1952	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	576					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1727C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.036947	0.19669	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.09723	2.95;2.95	5.97	5.09	0.68999	.	0.382752	0.32041	N	0.006673	T	0.07638	0.0192	N	0.20685	0.6	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.32587	-0.9901	9	.	.	.	.	12.46	0.55727	0.0:0.8641:0.0:0.1359	.	576	P29320	EPHA3_HUMAN	E	576	ENSP00000337451:A576E;ENSP00000419190:A576E	.	A	+	2	0	EPHA3	89539936	0.658000	0.27402	0.055000	0.19348	0.957000	0.61999	4.488000	0.60300	1.509000	0.48786	0.585000	0.79938	GCA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		21	131	1	0	4.35082e-09	1	5.27e-09	21	131				
ABCA5	23461	broad.mit.edu	37	17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCATCAGGTAGATGATCAGTA	0.313																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(298-300)Cta>Gta		ATP-binding cassette, sub-family A (ABC1), member 5							80.0	81.0	81.0					17																	67309242		2203	4294	6497	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309242G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.298C>G	17.37:g.67309242G>C	ENSP00000376443:p.Leu100Val					ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V	p.L100V			Q8WWZ7	ABCA5_HUMAN			3	362	-	Breast(10;3.72e-11)		100					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.298C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	5.170	0.216893	0.09810	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87412	-2.25;-2.25	5.0	4.03	0.46877	.	0.108732	0.41396	D	0.000900	T	0.79493	0.4455	L	0.38531	1.155	0.26377	N	0.976796	B;P	0.35684	0.43;0.515	B;B	0.37387	0.112;0.248	T	0.68614	-0.5362	9	.	.	.	.	6.9099	0.24329	0.1196:0.0:0.7155:0.1649	.	100;100	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	100	ENSP00000376444:L100V;ENSP00000376443:L100V	.	L	-	1	2	ABCA5	64820837	1.000000	0.71417	0.367000	0.25926	0.402000	0.30811	3.831000	0.55776	1.096000	0.41439	0.585000	0.79938	CTA		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		8	69	0	0	0	1	0	8	69				
RBM44	375316	broad.mit.edu	37	2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000409864.1	+	3	1416	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000316997.4_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1162-1164)Gat>Tat		RNA binding motif protein 44							48.0	49.0	49.0					2																	238726721		1866	4120	5986	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726721G>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1162G>T	2.37:g.238726721G>T	ENSP00000386727:p.Asp388Tyr					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y	p.D388Y	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1294	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	387					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1162G>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703457	0.48412	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.76	4.89	0.63831	.	0.553653	0.18502	N	0.139330	T	0.39145	0.1067	M	0.69823	2.125	0.25778	N	0.984768	D	0.71674	0.998	P	0.60173	0.87	T	0.29549	-1.0008	10	0.87932	D	0	-12.2542	9.0364	0.36291	0.167:0.0:0.833:0.0	.	387	Q6ZP01	RBM44_HUMAN	Y	388	ENSP00000321179:D388Y;ENSP00000386727:D388Y	ENSP00000321179:D388Y	D	+	1	0	RBM44	238391460	1.000000	0.71417	0.421000	0.26609	0.797000	0.45037	3.740000	0.55082	1.455000	0.47813	0.591000	0.81541	GAT		0.403	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		15	49	1	0	6.31663e-08	1	7.44151e-08	15	49				
NALCN	259232	broad.mit.edu	37	13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGCAGTTCAAATCGGAAA	0.373																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(481-483)Gaa>Caa		sodium leak channel, non-selective							68.0	69.0	69.0					13																	102029302		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029302C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.481G>C	13.37:g.102029302C>G	ENSP00000251127:p.Glu161Gln					NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	p.E161Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	562	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		161					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.481G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630300	0.46944	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98732	-5.1;-5.1;-5.1	4.92	4.92	0.64577	Ion transport (1);	0.051849	0.85682	D	0.000000	D	0.94115	0.8113	N	0.01874	-0.695	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.26416	0.069;0.042	D	0.91054	0.4880	10	0.24483	T	0.36	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	161;161	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	161	ENSP00000251127:E161Q;ENSP00000365367:E161Q;ENSP00000365373:E161Q	ENSP00000251127:E161Q	E	-	1	0	NALCN	100827303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	GAA		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		11	60	0	0	0	1	0	11	60				
ACTL7B	10880	broad.mit.edu	37	9	111617151	111617151	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:111617151G>A	ENST00000374667.3	-	1	2088	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGGAAGCGCTCGGGGAAG	0.672																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1060-1062)Cgc>Tgc		actin-like 7B							30.0	36.0	34.0					9																	111617151		2202	4299	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617151G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1060C>T	9.37:g.111617151G>A	ENSP00000363799:p.Arg354Cys						p.R354C	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2088	-			354					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1060C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095077	0.76870	.	.	ENSG00000148156	ENST00000374667	D	0.99369	-5.78	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99687	0.9882	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97282	0.9918	10	0.87932	D	0	.	16.3291	0.83001	0.0:0.0:1.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	C	354	ENSP00000363799:R354C	ENSP00000363799:R354C	R	-	1	0	ACTL7B	110656972	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.263000	0.51546	2.449000	0.82847	0.561000	0.74099	CGC		0.672	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		24	55	0	0	0	1	0	24	55				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	38	0	0	0	1	0	3	38				
FLT4	2324	broad.mit.edu	37	5	180048621	180048621	+	Silent	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1939-1941)caC>caT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						29.0	27.0	28.0					5																	180048621		2203	4295	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048621G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1941C>T	5.37:g.180048621G>A						FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000502649.1_Silent_p.H647H	p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2019	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	647			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1941C>T	CCDS4457.1																																																																																				0.687	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			13	26	0	0	0	1	0	13	26				
USP31	57478	broad.mit.edu	37	16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2542-2544)tCc>tTc		ubiquitin specific peptidase 31							44.0	39.0	40.0					16																	23080883		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080883G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2543C>T	16.37:g.23080883G>A	ENSP00000219689:p.Ser848Phe					USP31_ENST00000567975.1_Missense_Mutation_p.S141F	p.S848F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2542	-			848			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2543C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140117	0.56936	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10099	2.91	6.16	5.19	0.71726	.	0.155509	0.44902	D	0.000417	T	0.29355	0.0731	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.66351	0.884;0.943;0.917	T	0.01375	-1.1371	10	0.39692	T	0.17	-11.6848	16.5774	0.84705	0.0:0.1302:0.8698:0.0	.	151;848;141	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	F	848;151	ENSP00000219689:S848F	ENSP00000219689:S848F	S	-	2	0	USP31	22988384	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.607000	0.82883	1.574000	0.49760	0.650000	0.86243	TCC		0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	49	0	0	0	1	0	9	49				
ARHGAP28	79822	broad.mit.edu	37	18	6896512	6896512	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:6896512G>T	ENST00000383472.4	+	16	2021	c.1917G>T	c.(1915-1917)ccG>ccT	p.P639P	ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000419673.2_Silent_p.P480P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000531294.1_Silent_p.P475P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	639					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTGACGTGCCGGAAGGAGTCA	0.443																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(1438-1440)ccG>ccT		Rho GTPase activating protein 28							125.0	107.0	113.0					18																	6896512		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6896512G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1917G>T	18.37:g.6896512G>T						ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000383472.4_Silent_p.P639P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000531294.1_Silent_p.P475P	p.P480P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			15	1657	+		Colorectal(10;0.168)	462					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1440G>T																																																																																					0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		4	27	1	0	0.184627	1	0.184627	4	27				
TRMT6	51605	broad.mit.edu	37	20	5931051	5931051	+	Start_Codon_SNP	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr20:5931051T>A	ENST00000203001.2	-	1	131	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR|MCM8_ENST00000378883.1_5'Flank|MCM8_ENST00000265187.4_5'Flank|MCM8_ENST00000378886.2_5'Flank|MCM8_ENST00000378896.3_5'Flank	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	1					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GAGCCCTCCATGACGCTCAGC	0.677																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1-3)Atg>Ttg		tRNA methyltransferase 6 homolog (S. cerevisiae)							43.0	40.0	41.0					20																	5931051		2203	4299	6502	SO:0001582	initiator_codon_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5931051T>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1A>T	20.37:g.5931051T>A	ENSP00000203001:p.Met1Leu					TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	p.M1L	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			1	131	-			1					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Translation_Start_Site	SNP	ENST00000203001.2	37	c.1A>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867362	0.32977	.	.	ENSG00000089195	ENST00000203001	T	0.19105	2.17	5.28	5.28	0.74379	.	0.272569	0.44902	D	0.000411	T	0.16385	0.0394	.	.	.	0.80722	D	1	B	0.18863	0.031	B	0.16722	0.016	T	0.09997	-1.0649	9	0.87932	D	0	-15.5843	5.4009	0.16295	0.0:0.2034:0.0:0.7966	.	1	Q9UJA5	TRM6_HUMAN	L	1	ENSP00000203001:M1L	ENSP00000203001:M1L	M	-	1	0	TRMT6	5879051	0.995000	0.38212	0.994000	0.49952	0.113000	0.19764	1.398000	0.34554	2.343000	0.79666	0.496000	0.49642	ATG		0.677	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2		Missense_Mutation	8	33	0	0	0	1	0	8	33				
OR5L1	219437	broad.mit.edu	37	11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(724-726)Gct>Tct		olfactory receptor, family 5, subfamily L, member 1							181.0	149.0	160.0					11																	55579666		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579666G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.724G>T	11.37:g.55579666G>T	ENSP00000335529:p.Ala242Ser						p.A242S	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	813	+		all_epithelial(135;0.208)	242					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.724G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	14.93	2.681971	0.47991	.	.	ENSG00000186117	ENST00000333973	T	0.38887	1.11	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.122216	0.37261	N	0.002169	T	0.43942	0.1270	L	0.27944	0.81	0.23727	N	0.997009	D	0.64830	0.994	D	0.68039	0.955	T	0.15954	-1.0419	10	0.37606	T	0.19	-18.2241	7.4069	0.26995	0.2048:0.0:0.7952:0.0	.	242	Q8NGL2	OR5L1_HUMAN	S	242	ENSP00000335529:A242S	ENSP00000335529:A242S	A	+	1	0	OR5L1	55336242	0.000000	0.05858	0.996000	0.52242	0.772000	0.43724	-0.705000	0.05052	0.740000	0.32651	0.428000	0.28381	GCT		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		25	109	1	0	1.55469e-16	1	1.96623e-16	25	109				
LINGO2	158038	broad.mit.edu	37	9	27949700	27949700	+	Missense_Mutation	SNP	G	G	A	rs202210200		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:27949700G>A	ENST00000379992.2	-	6	1419	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGAGCACGCGTAGGAAGCGG	0.537																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(970-972)Cgc>Tgc		leucine rich repeat and Ig domain containing 2							78.0	82.0	81.0					9																	27949700		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949700G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.970C>T	9.37:g.27949700G>A	ENSP00000369328:p.Arg324Cys					LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1419	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	324					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.970C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481104	0.26598	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.95	5.95	0.96441	.	0.057872	0.64402	D	0.000002	T	0.67739	0.2925	M	0.87547	2.89	0.80722	D	1	P	0.38048	0.616	B	0.38106	0.265	T	0.69946	-0.5007	9	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	324	Q7L985	LIGO2_HUMAN	C	324	ENSP00000369328:R324C;ENSP00000310126:R324C	.	R	-	1	0	LINGO2	27939700	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.992000	0.63889	2.824000	0.97209	0.655000	0.94253	CGC		0.537	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		30	101	0	0	0	1	0	30	101				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261949	39261949	+	Silent	SNP	T	T	C	rs7212474	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:39261949T>C	ENST00000391415.1	+	1	366	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	103	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCCAACCCACTTGCTGTCGCC	0.652													C|||	3329	0.664736	0.9486	0.6441	5008	,	,		15848	0.4038		0.6869	False		,,,				2504	0.5419					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(307-309)acT>acC		keratin associated protein 4-9							12.0	22.0	19.0					17																	39261949		681	1589	2270	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261949T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.309T>C	17.37:g.39261949T>C							p.T103T	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	366	+			103			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.309T>C	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	21	0	0	0	1	0	4	21				
SNHG14	104472715	broad.mit.edu	37	15	25423748	25423748	+	RNA	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:25423748G>T	ENST00000441592.2	+	0	319				SNORD115-4_ENST00000363810.1_RNA|SNORD115-6_ENST00000363942.1_RNA|SNORD115-5_ENST00000363633.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CCAGGCCAGTGGTTGTCATCC	0.627																																						ENST00000441592.2																			0																																																			0							g.chr15:25423748G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25423748G>T														0	319	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.627	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			34	34	1	0	4.74835e-14	1	5.91824e-14	34	34				
GALNTL5	168391	broad.mit.edu	37	7	151684285	151684285	+	Missense_Mutation	SNP	C	C	T	rs368842809		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:151684285C>T	ENST00000392800.2	+	5	831	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	193	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGAAACTTTTCGGGGAAAGGT	0.378																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(577-579)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	52.0	51.0		577	4.3	0.0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNTL5	NM_145292.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	193/444	151684285	2,13004	2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151684285C>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.577C>T	7.37:g.151684285C>T	ENSP00000376548:p.Arg193Trp					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	5	831	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	193			Catalytic subdomain A.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.577C>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.859855	0.51482	2.27E-4	1.16E-4	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59502	0.26;0.26	4.3	4.3	0.51218	Glycosyl transferase, family 2 (1);	0.000000	0.37577	N	0.002029	T	0.73210	0.3558	M	0.70275	2.135	0.09310	N	0.999999	D	0.89917	1.0	D	0.71870	0.975	T	0.65990	-0.6034	10	0.66056	D	0.02	.	14.676	0.68981	0.0:1.0:0.0:0.0	.	193	Q7Z4T8	GLTL5_HUMAN	W	193	ENSP00000392582:R193W;ENSP00000376548:R193W	ENSP00000376548:R193W	R	+	1	2	GALNTL5	151315218	1.000000	0.71417	0.029000	0.17559	0.637000	0.38172	2.759000	0.47573	2.388000	0.81334	0.556000	0.70494	CGG		0.378	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		15	49	0	0	0	1	0	15	49				
SPTA1	6708	broad.mit.edu	37	1	158639553	158639553	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368147.4	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	541					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1621-1623)aaA>aaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							207.0	191.0	196.0					1																	158639553		1887	4104	5991	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639553T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1623A>G	1.37:g.158639553T>C						SPTA1_ENST00000368147.3_Silent_p.K541K	p.K541K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1803	-	all_hematologic(112;0.0378)		541					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1623A>G	CCDS41423.1																																																																																				0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		103	170	0	0	0	1	0	103	170				
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:81123531C>A	ENST00000504452.1	+	8	1754	c.915C>A	c.(913-915)atC>atA	p.I305I	PRDM8_ENST00000339711.4_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(913-915)atC>atA		PR domain containing 8							4.0	5.0	5.0					4																	81123531		1413	3268	4681	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123531C>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.915C>A	4.37:g.81123531C>A			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I	p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2146	+			305			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.915C>A	CCDS43243.1																																																																																				0.746	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	12	1	0	0.004672	1	0.0048999	3	12				
DLL4	54567	broad.mit.edu	37	15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1903-1905)gAc>gCc		delta-like 4 (Drosophila)							20.0	22.0	21.0					15																	41229089		1919	4112	6031	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41229089A>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1904A>C	15.37:g.41229089A>C	ENSP00000249749:p.Asp635Ala						p.D635A	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	2180	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	635					Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1904A>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508371	0.64410	.	.	ENSG00000128917	ENST00000249749	D	0.88586	-2.4	5.47	5.47	0.80525	.	0.345459	0.37393	N	0.002112	T	0.81740	0.4886	N	0.16790	0.44	0.58432	D	0.999991	P	0.46395	0.877	B	0.40636	0.335	D	0.83797	0.0234	10	0.45353	T	0.12	.	15.7063	0.77583	1.0:0.0:0.0:0.0	.	635	Q9NR61	DLL4_HUMAN	A	635	ENSP00000249749:D635A	ENSP00000249749:D635A	D	+	2	0	DLL4	39016381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.293000	0.77203	0.528000	0.53228	GAC		0.602	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			17	7	0	0	0	1	0	17	7				
MYOM1	8736	broad.mit.edu	37	18	3102500	3102500	+	Nonsense_Mutation	SNP	G	G	A	rs369979714		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:3102500G>A	ENST00000356443.4	-	23	3880	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1183	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCCAATCGTGGAGAGTCC	0.433																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3547-3549)Cga>Tga		myomesin 1		G	stop/ARG,stop/ARG	0,3784		0,0,1892	215.0	208.0	210.0		3547,3259	3.5	0.3	18		210	1,8263		0,1,4131	no	stop-gained,stop-gained	MYOM1	NM_003803.3,NM_019856.1	,	0,1,6023	AA,AG,GG		0.0121,0.0,0.0083	,	1183/1686,1087/1590	3102500	1,12047	1892	4132	6024	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102500G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3547C>T	18.37:g.3102500G>A	ENSP00000348821:p.Arg1183*					MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*	p.R1183*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			23	3880	-			1183			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.3547C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	41	9.021984	0.99038	0.0	1.21E-4	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.46	3.52	0.40303	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3385	0.60530	0.0:0.0:0.5216:0.4784	.	.	.	.	X	1183;1183;1087	.	ENSP00000261606:R1087X	R	-	1	2	MYOM1	3092500	1.000000	0.71417	0.302000	0.25058	0.032000	0.12392	3.195000	0.51013	0.508000	0.28173	0.557000	0.71058	CGA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	116	0	0	0	1	0	8	116				
DPY19L2	283417	broad.mit.edu	37	12	64017904	64017904	+	Missense_Mutation	SNP	C	C	T	rs147579680	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr12:64017904C>T	ENST00000324472.4	-	8	1052	c.869G>A	c.(868-870)cGt>cAt	p.R290H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	290					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCACATCACACGGGTGGCCTG	0.353													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16418	0.0		0.001	False		,,,				2504	0.0					ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(868-870)cGt>cAt		dpy-19-like 2 (C. elegans)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	42.0	43.0		869	2.8	1.0	12	dbSNP_134	43	6,8594	4.3+/-15.6	0,6,4294	no	missense	DPY19L2	NM_173812.4	29	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging	290/759	64017904	7,12999	2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64017904C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.869G>A	12.37:g.64017904C>T	ENSP00000315988:p.Arg290His					RP11-415I12.3_ENST00000509615.2_RNA	p.R290H	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	8	1052	-			290					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.869G>A	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727809	0.69074	2.27E-4	6.98E-4	ENSG00000177990	ENST00000324472	T	0.66280	-0.2	2.78	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55289	-0.8164	9	.	.	.	.	11.0306	0.47769	0.0:1.0:0.0:0.0	.	290	Q6NUT2	D19L2_HUMAN	H	290	ENSP00000315988:R290H	.	R	-	2	0	DPY19L2	62304171	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	5.795000	0.69074	1.388000	0.46506	0.398000	0.26397	CGT		0.353	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		3	39	0	0	0	1	0	3	39				
FUT2	2524	broad.mit.edu	37	19	49207194	49207194	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(979-981)ctG>ctT		fucosyltransferase 2 (secretor status included)							64.0	61.0	62.0					19																	49207194		2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207194G>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.981G>T	19.37:g.49207194G>T						FUT2_ENST00000391876.4_Silent_p.L327L	p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	1098	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	327					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.981G>T	CCDS33069.1																																																																																				0.567	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		18	97	1	0	1.99824e-07	1	2.32227e-07	18	97				
BNIP3L	665	broad.mit.edu	37	8	26239000	26239000	+	5'Flank	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr8:26239000G>C	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000523515.1_5'Flank|BNIP3L_ENST00000520409.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CTGCAGTCAGGTTGCTGGGCA	0.488																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26239000G>C	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26239000G>C	Exception_encountered													0	948	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.488	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		5	15	0	0	0	1	0	5	15				
FAM171A1	221061	broad.mit.edu	37	10	15255871	15255871	+	Silent	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:15255871G>A	ENST00000378116.4	-	8	1722	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	572						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTGTAAACGCTGTCATTGA	0.567																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1714-1716)agC>agT		family with sequence similarity 171, member A1							101.0	105.0	104.0					10																	15255871		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255871G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1716C>T	10.37:g.15255871G>A							p.S572S	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1722	-			572					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1716C>T	CCDS31154.1																																																																																				0.567	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		51	93	0	0	0	1	0	51	93				
COQ7	10229	broad.mit.edu	37	16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(631-633)aTa>aCa		coenzyme Q7 homolog, ubiquinone (yeast)							113.0	104.0	107.0					16																	19089458		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19089458T>C	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.632T>C	16.37:g.19089458T>C	ENSP00000322316:p.Ile211Thr					COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T	p.I211T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			6	698	+			211			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.632T>C	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981235	0.53827	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.60424	0.19;0.19	5.33	5.33	0.75918	.	0.039673	0.85682	D	0.000000	D	0.82328	0.5013	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.987;0.992	D	0.85360	0.1107	10	0.29301	T	0.29	-13.7839	14.9797	0.71303	0.0:0.0:0.0:1.0	.	188;211	Q49A71;Q99807	.;COQ7_HUMAN	T	211;173	ENSP00000322316:I211T;ENSP00000442923:I173T	ENSP00000322316:I211T	I	+	2	0	COQ7	18996959	1.000000	0.71417	0.435000	0.26784	0.223000	0.24884	6.321000	0.72881	2.008000	0.58898	0.482000	0.46254	ATA		0.388	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		8	47	0	0	0	1	0	8	47				
ST14	6768	broad.mit.edu	37	11	130079559	130079559	+	Silent	SNP	T	T	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:130079559T>G	ENST00000278742.5	+	19	2827	c.2409T>G	c.(2407-2409)ggT>ggG	p.G803G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	803	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCGCCCAGGGTGATTCCGGGG	0.721																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2407-2409)ggT>ggG		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						29.0	31.0	30.0					11																	130079559		2200	4296	6496	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079559T>G	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2409T>G	11.37:g.130079559T>G							p.G803G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2827	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	803			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.2409T>G	CCDS8487.1																																																																																				0.721	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			5	19	0	0	0	1	0	5	19				
RAB37	326624	broad.mit.edu	37	17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000392613.5	+	8	555	c.499G>A	c.(499-501)Gtt>Att	p.V167I	RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000340415.3_Missense_Mutation_p.V160I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(478-480)Gtt>Att		RAB37, member RAS oncogene family							88.0	78.0	82.0					17																	72741156		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741156G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.499G>A	17.37:g.72741156G>A	ENSP00000376389:p.Val167Ile		OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I	p.V160I	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			8	1487	+			167					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.478G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819952	0.16678	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.064069	0.64402	D	0.000010	T	0.68559	0.3014	N	0.17872	0.535	0.54753	D	0.999981	B;B;B;B;B;B	0.33919	0.187;0.432;0.156;0.128;0.038;0.08	B;B;B;B;B;B	0.42625	0.21;0.393;0.1;0.075;0.079;0.074	T	0.63492	-0.6625	10	0.02654	T	1	.	17.9083	0.88926	0.0:0.0:1.0:0.0	.	130;135;172;160;167;160	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	I	160;160;160;140;135;172;167;130;167	ENSP00000341354:V160I;ENSP00000383934:V160I;ENSP00000432086:V140I;ENSP00000376391:V135I;ENSP00000376390:V172I;ENSP00000376389:V167I;ENSP00000376388:V130I;ENSP00000376387:V167I	ENSP00000341354:V160I	V	+	1	0	RAB37	70252751	1.000000	0.71417	0.948000	0.38648	0.771000	0.43674	6.093000	0.71422	2.598000	0.87819	0.549000	0.68633	GTT		0.617	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		7	65	0	0	0	1	0	7	65				
DGKI	9162	broad.mit.edu	37	7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000288490.5	-	9	1035	c.1035C>A	c.(1033-1035)agC>agA	p.S345R	DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000453654.2_Missense_Mutation_p.S45R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	345					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(133-135)agC>agA		diacylglycerol kinase, iota							163.0	136.0	145.0					7																	137294314		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137294314G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1035C>A	7.37:g.137294314G>T	ENSP00000288490:p.Ser345Arg					DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R	p.S45R			O75912	DGKI_HUMAN			9	674	-			345					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.135C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654422	0.47467	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.38077	1.78;1.16;1.36	5.61	0.913	0.19354	.	0.196432	0.53938	D	0.000051	T	0.52869	0.1761	M	0.76838	2.35	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.46048	-0.9219	10	0.40728	T	0.16	.	6.5356	0.22352	0.448:0.0:0.438:0.1139	.	45;345	E9PFX6;O75912	.;DGKI_HUMAN	R	45;293;345;345;345	ENSP00000392161:S45R;ENSP00000288490:S345R;ENSP00000399131:S345R	ENSP00000288490:S345R	S	-	3	2	DGKI	136944854	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.330000	0.19715	0.115000	0.18071	-0.794000	0.03295	AGC		0.438	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	42	1	0	2.17888e-05	1	2.46557e-05	8	42				
PDIA6	10130	broad.mit.edu	37	2	10929048	10929048	+	Silent	SNP	A	A	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000272227.3	-	9	1047	c.900T>A	c.(898-900)gcT>gcA	p.A300A	PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000404371.2_Silent_p.A352A|PDIA6_ENST00000540494.1_Silent_p.A297A	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1054-1056)gcT>gcA		protein disulfide isomerase family A, member 6							148.0	140.0	143.0					2																	10929048		2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10929048A>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.900T>A	2.37:g.10929048A>T						PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000272227.3_Silent_p.A300A	p.A352A			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	11	1393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		300					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.1056T>A	CCDS1675.1																																																																																				0.463	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		50	81	0	0	0	1	0	50	81				
TNXB	7148	broad.mit.edu	37	6	32036414	32036414	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5971-5973)ggG>ggA		tenascin XB							46.0	51.0	50.0					6																	32036414		1972	4143	6115	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036414C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5973G>A	6.37:g.32036414C>T						TNXB_ENST00000375247.2_Silent_p.G1991G	p.G1991G			P22105	TENX_HUMAN			17	6174	-			2073			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5973G>A																																																																																					0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	76	0	0	0	1	0	7	76				
ITGA2B	3674	broad.mit.edu	37	17	42455141	42455141	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2110-2112)atC>atA		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						79.0	70.0	73.0					17																	42455141		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455141G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2112C>A	17.37:g.42455141G>T						ITGA2B_ENST00000353281.4_Silent_p.I704I	p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	21	2143	-		Prostate(33;0.0181)	704					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.2112C>A	CCDS32665.1																																																																																				0.478	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			7	52	1	0	0.00448238	1	0.00475907	7	52				
PAQR4	124222	broad.mit.edu	37	16	3021853	3021853	+	Silent	SNP	C	C	T	rs570979634		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(724-726)atC>atT		progestin and adipoQ receptor family member IV							40.0	43.0	42.0					16																	3021853		2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021853C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.726C>T	16.37:g.3021853C>T						PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000431515.2_Intron	p.I242I	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1156	+			242					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.726C>T	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		7	39	0	0	0	1	0	7	39				
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		CD207 molecule, langerin							127.0	137.0	134.0					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly						p.D269G	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			5	851	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		33	30	0	0	0	1	0	33	30				
PAQR4	124222	broad.mit.edu	37	16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(133-135)Ctg>Gtg		progestin and adipoQ receptor family member IV							15.0	17.0	16.0					16																	3019808		2182	4283	6465	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3019808C>G		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.133C>G	16.37:g.3019808C>G	ENSP00000321804:p.Leu45Val					PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron	p.L45V	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			1	563	+			45					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.133C>G	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776761	0.49786	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.34472	1.52;1.36	4.61	2.46	0.29980	.	0.250386	0.33457	N	0.004899	T	0.31670	0.0804	L	0.46885	1.475	0.80722	D	1	P;B;B	0.35033	0.481;0.004;0.007	B;B;B	0.38842	0.283;0.006;0.017	T	0.06092	-1.0846	10	0.29301	T	0.29	-5.169	10.5849	0.45278	0.3643:0.6357:0.0:0.0	.	45;45;45	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	V	45	ENSP00000321804:L45V;ENSP00000293978:L45V	ENSP00000293978:L45V	L	+	1	2	PAQR4	2959809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.923000	0.56469	0.893000	0.36288	0.462000	0.41574	CTG		0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		3	38	0	0	0	1	0	3	38				
FAM227B	196951	broad.mit.edu	37	15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A	rs185086177	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:49800527C>A	ENST00000299338.6	-	11	1196	c.893G>T	c.(892-894)gGc>gTc	p.G298V	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	298																	GATCCAAAAGCCTTTTTGAGG	0.313													C|||	3	0.000599042	0.0	0.0029	5008	,	,		14354	0.0		0.001	False		,,,				2504	0.0					ENST00000299338.6																			0											c.(892-894)gGc>gTc		family with sequence similarity 227, member B							106.0	106.0	106.0					15																	49800527		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49800527C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.893G>T	15.37:g.49800527C>A	ENSP00000299338:p.Gly298Val					FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	p.G298V	NM_152647.2	NP_689860.2					11	1196	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.893G>T	CCDS32237.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.74	2.029336	0.35797	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.01	1.05	0.20165	.	0.567736	0.15839	N	0.242132	T	0.48484	0.1502	M	0.65975	2.015	0.24652	N	0.993513	D;D	0.61080	0.989;0.974	P;P	0.55391	0.775;0.731	T	0.33343	-0.9872	9	0.40728	T	0.16	-19.6793	5.9562	0.19275	0.0:0.6564:0.0:0.3436	.	264;298	Q96M60-2;Q96M60	.;CO033_HUMAN	V	298;264	.	ENSP00000299338:G298V	G	-	2	0	C15orf33	47587819	0.053000	0.20554	0.815000	0.32552	0.971000	0.66376	1.198000	0.32223	0.118000	0.18165	0.557000	0.71058	GGC		0.313	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		24	35	1	0	1.55469e-16	1	1.96623e-16	24	35				
ARID1B	57492	broad.mit.edu	37	6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000350026.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1732-1734)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							36.0	35.0	35.0					6																	157150550		2203	4300	6503	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150550C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1732C>T	6.37:g.157150550C>T	ENSP00000055163:p.Gln578*					ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	p.Q578*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1733	+		Breast(66;0.000162)|Ovarian(120;0.0265)	578			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.1732C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	9.124844	0.99073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	578;578;578;520;77	.	ENSP00000275248:Q520X	Q	+	1	0	ARID1B	157192242	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.602000	0.67612	2.515000	0.84797	0.650000	0.86243	CAG		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	0	0	0	1	0	4	45				
PRKCA	5578	broad.mit.edu	37	17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(616-618)aaT>aaA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						159.0	162.0	161.0					17																	64683317		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64683317T>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.618T>A	17.37:g.64683317T>A	ENSP00000408695:p.Asn206Lys						p.N206K	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	644	+			206			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.618T>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786350	0.31593	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.40225	1.04	4.98	-0.0522	0.13823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.15825	0.0381	N	0.02345	-0.59	0.53688	D	0.999972	B;B	0.18863	0.001;0.031	B;B	0.21708	0.006;0.036	T	0.09662	-1.0664	10	0.19590	T	0.45	.	9.4334	0.38624	0.0:0.3899:0.0:0.6101	.	206;117	P17252;Q59FI5	KPCA_HUMAN;.	K	206;113	ENSP00000408695:N206K	ENSP00000284384:N113K	N	+	3	2	PRKCA	62113779	0.284000	0.24287	0.995000	0.50966	0.899000	0.52679	-0.380000	0.07427	-0.352000	0.08237	-0.736000	0.03550	AAT		0.408	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			62	124	0	0	0	1	0	62	124				
ZNF33A	7581	broad.mit.edu	37	10	38343826	38343826	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000458705.2	+	5	929	c.771T>C	c.(769-771)gaT>gaC	p.D257D	ZNF33A_ENST00000374618.3_Silent_p.D258D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(772-774)gaT>gaC		zinc finger protein 33A							75.0	70.0	72.0					10																	38343826		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343826T>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.771T>C	10.37:g.38343826T>C						ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.D264D	p.D258D	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	952	+			257					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.774T>C	CCDS31182.1																																																																																				0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		11	64	0	0	0	1	0	11	64				
NBEAP1	606	broad.mit.edu	37	15	20876452	20876452	+	RNA	SNP	G	G	A	rs6422239	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:20876452G>A	ENST00000556948.1	-	0	148							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		CTTTGCAGGTGTATGTATCCA	0.333													G|||	770	0.153754	0.4266	0.0634	5008	,	,		41326	0.0972		0.0308	False		,,,				2504	0.0337					ENST00000556948.1																			0																																																			0							g.chr15:20876452G>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876452G>A														0	148	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		14	34	0	0	0	1	0	14	34				
DGUOK	1716	broad.mit.edu	37	2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	ACCCAGAATGGCACGTAGCTA	0.473																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8	GRCh37	CM080194	DGUOK	M	rs140307681	c.(193-195)tgG>tgT		deoxyguanosine kinase							143.0	128.0	133.0					2																	74166089		2203	4300	6503	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74166089G>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.195G>T	2.37:g.74166089G>T	ENSP00000264093:p.Trp65Cys					DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	p.W65C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			2	280	+			65					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.195G>T	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046798	0.75846	.	.	ENSG00000114956	ENST00000264093;ENST00000348222	D;D	0.94330	-3.4;-3.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97388	0.9987	10	0.72032	D	0.01	-9.5802	17.6052	0.88036	0.0:0.0:1.0:0.0	.	65;65	E5KSL6;Q16854	.;DGUOK_HUMAN	C	65	ENSP00000264093:W65C;ENSP00000306964:W65C	ENSP00000264093:W65C	W	+	3	0	DGUOK	74019597	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.382000	0.73167	2.462000	0.83206	0.555000	0.69702	TGG		0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			4	62	1	0	0.00024832	1	0.000273789	4	62				
OFCC1	266553	broad.mit.edu	37	6	9933495	9933495	+	Missense_Mutation	SNP	T	T	A	rs181773704		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:9933495T>A	ENST00000316020.6	-	3	262	c.263A>T	c.(262-264)aAg>aTg	p.K88M	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCAGCCGACTTGGATTTCTT	0.368																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(262-264)aAg>aTg		orofacial cleft 1 candidate 1							90.0	91.0	91.0					6																	9933495		2203	4300	6503	SO:0001583	missense	266553							g.chr6:9933495T>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.263A>T	6.37:g.9933495T>A	ENSP00000325053:p.Lys88Met					OFCC1_ENST00000472329.1_5'UTR	p.K88M							3	262	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	ENST00000316020.6	37	c.263A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.56|14.56	2.570516|2.570516	0.45798|0.45798	.|.	.|.	ENSG00000181355|ENSG00000181355	ENST00000460363;ENST00000316020;ENST00000491508|ENST00000492169	T;T|.	0.41400|.	1.0;1.0|.	5.93|5.93	4.76|4.76	0.60689|0.60689	.|.	0.059671|.	0.64402|.	D|.	0.000006|.	T|T	0.48926|0.48926	0.1527|0.1527	.|.	.|.	.|.	0.34496|0.34496	D|D	0.705529|0.705529	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.81914|.	0.995;0.995;0.995;0.983|.	T|T	0.51631|0.51631	-0.8681|-0.8681	8|4	.|.	.|.	.|.	-14.9823|-14.9823	13.062|13.062	0.59012|0.59012	0.0:0.0:0.1389:0.8611|0.0:0.0:0.1389:0.8611	.|.	20;88;20;20|.	B7ZLI9;Q8IZS5-2;Q8IZS5;Q8IZS5-3|.	.;.;OFCC1_HUMAN;.|.	M|H	20;88;88|2	ENSP00000325053:K88M;ENSP00000418251:K88M|.	.|.	K|Q	-|-	2|3	0|2	OFCC1|OFCC1	10041481|10041481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.230000|6.230000	0.72301|0.72301	1.040000|1.040000	0.40099|0.40099	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.368	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		11	53	0	0	0	1	0	11	53				
ARID1B	57492	broad.mit.edu	37	6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000350026.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000346085.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1726-1728)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							39.0	37.0	38.0					6																	157150545		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150545C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1727C>T	6.37:g.157150545C>T	ENSP00000055163:p.Pro576Leu					ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	p.P576L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1728	+		Breast(66;0.000162)|Ovarian(120;0.0265)	576			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1727C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695411	0.48202	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02552	4.44;4.65;4.6;4.55;4.25	5.09	5.09	0.68999	.	0.087594	0.45867	D	0.000328	T	0.02767	0.0083	N	0.14661	0.345	0.53005	D	0.999969	D;D;D	0.56287	0.958;0.975;0.975	P;P;P	0.53861	0.549;0.736;0.736	T	0.62534	-0.6834	10	0.87932	D	0	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	576;576;518	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	576;576;576;518;75	ENSP00000344546:P576L;ENSP00000055163:P576L;ENSP00000356116:P576L;ENSP00000275248:P518L;ENSP00000412835:P75L	ENSP00000275248:P518L	P	+	2	0	ARID1B	157192237	0.999000	0.42202	0.983000	0.44433	0.970000	0.65996	4.280000	0.58959	2.515000	0.84797	0.650000	0.86243	CCT		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	0	0	0	1	0	4	45				
MKS1	54903	broad.mit.edu	37	17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(706-708)atC>atG		Meckel syndrome, type 1							169.0	164.0	166.0					17																	56291167		1975	4165	6140	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56291167G>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.708C>G	17.37:g.56291167G>C	ENSP00000376827:p.Ile236Met					MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M	p.I236M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			7	782	-			236					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.708C>G	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.80|19.80	3.895248|3.895248	0.72639|0.72639	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.76060|.	-0.57;-0.57;-0.33;-0.99|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.196469|.	0.53938|.	D|.	0.000055|.	T|.	0.73133|.	0.3548|.	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999992|0.999992	D;P|.	0.53312|.	0.959;0.668|.	P;B|.	0.49887|.	0.625;0.323|.	T|.	0.68454|.	-0.5404|.	10|.	0.51188|.	T|.	0.08|.	-13.256|-13.256	19.0799|19.0799	0.93178|0.93178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;236|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	M|X	226;236;236;236;33|237	ENSP00000442096:I226M;ENSP00000376827:I236M;ENSP00000338407:I236M;ENSP00000443012:I33M|.	ENSP00000338407:I236M|.	I|S	-|-	3|2	3|0	MKS1|MKS1	53646166|53646166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.832000|2.832000	0.48152|0.48152	2.852000|2.852000	0.98041|0.98041	0.643000|0.643000	0.83706|0.83706	ATC|TCA		0.478	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		28	37	0	0	0	1	0	28	37				
FAM126A	84668	broad.mit.edu	37	7	22985646	22985646	+	Silent	SNP	A	A	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1126-1128)agT>agC		family with sequence similarity 126, member A							128.0	136.0	133.0					7																	22985646		2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985646A>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1128T>C	7.37:g.22985646A>G						FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	p.S376S	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1360	-			376					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1128T>C	CCDS5377.1																																																																																				0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		67	139	0	0	0	1	0	67	139				
ABCA5	23461	broad.mit.edu	37	17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTATATCCAAGAATTAGATTA	0.318																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(235-237)Ctt>Gtt		ATP-binding cassette, sub-family A (ABC1), member 5							86.0	91.0	89.0					17																	67309305		2203	4291	6494	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309305G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.235C>G	17.37:g.67309305G>C	ENSP00000376443:p.Leu79Val					ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V	p.L79V			Q8WWZ7	ABCA5_HUMAN			3	299	-	Breast(10;3.72e-11)		79					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.235C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	1.970	-0.436801	0.04636	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.44482	0.92;0.92	5.0	2.76	0.32466	.	0.245479	0.29342	N	0.012433	T	0.22003	0.0530	N	0.12637	0.245	0.20926	N	0.999829	B;B	0.14438	0.002;0.01	B;B	0.21708	0.015;0.036	T	0.17653	-1.0362	9	.	.	.	.	8.3682	0.32399	0.0:0.1618:0.4888:0.3493	.	79;79	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	79	ENSP00000376444:L79V;ENSP00000376443:L79V	.	L	-	1	0	ABCA5	64820900	0.987000	0.35691	0.834000	0.33040	0.791000	0.44710	1.858000	0.39408	1.096000	0.41439	0.585000	0.79938	CTT		0.318	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	66	0	0	0	1	0	7	66				
UBE2D3	7323	broad.mit.edu	37	4	103720584	103720584	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358																																						ENST00000453744.2																			0				kidney(1)|lung(3)|skin(1)	5						c.(376-378)atC>atA		ubiquitin-conjugating enzyme E2D 3							61.0	62.0	61.0					4																	103720584		2203	4299	6502	SO:0001819	synonymous_variant	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103720584G>T	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.378C>A	4.37:g.103720584G>T						UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000394803.5_Silent_p.I126I	p.I126I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	7	891	-		Hepatocellular(203;0.217)	126					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Silent	SNP	ENST00000453744.2	37	c.378C>A	CCDS3660.1																																																																																				0.358	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		9	37	1	0	0.00621372	1	0.00636166	9	37				
SNX13	23161	broad.mit.edu	37	7	17933026	17933026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:17933026delT	ENST00000409389.1	-	3	329	c.157delA	c.(157-159)acafs	p.T53fs	SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs|SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	53					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAGTTTGTTTTTCCAAAC	0.338																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(157-159)cafs		sorting nexin 13							42.0	37.0	38.0					7																	17933026		1814	4065	5879	SO:0001589	frameshift_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17933026delT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.157delA	7.37:g.17933026delT	ENSP00000386705:p.Thr53fs					SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs|SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs	p.T53fs			Q9Y5W8	SNX13_HUMAN			3	329	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		53					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Frame_Shift_Del	DEL	ENST00000409389.1	37	c.157delA																																																																																					0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		2	4						2	4	---	---	---	---
GTPBP10	85865	broad.mit.edu	37	7	90014223	90014224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:90014223_90014224insA	ENST00000222511.6	+	10	985_986	c.919_920insA	c.(919-921)gaafs	p.E307fs	GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.E228fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	307	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(919-921)aaafs		GTP-binding protein 10 (putative)																																				SO:0001589	frameshift_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90014223_90014224insA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.926dupA	7.37:g.90014230_90014230dupA	ENSP00000222511:p.Glu307fs					GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.K228fs	p.K307fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			10	985_986	+			307					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Frame_Shift_Ins	INS	ENST00000222511.6	37	c.919_920insA	CCDS5617.1																																																																																				0.327	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		27	80						27	80	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			0							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		7	26						7	26	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	3						4	3	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	7						5	7	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G	rs376179032		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19									immunoglobulin heavy variable 3-23																		ATCCCAGGGCTGGGCTCCTCTC	0.5																																						ENST00000390609.2																			0																																																			0							g.chr14:106725714_106725715insG	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725717_106725717dupG														0	18_19	-									RNA	INS	ENST00000390609.2	37																																																																																						0.500	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		8	168						8	168	---	---	---	---
