#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
PEX14	5195	broad.mit.edu	37	1	10555347	10555347	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:10555347G>A	ENST00000356607.4	+	2	133	c.53G>A	c.(52-54)gGa>gAa	p.G18E	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	18					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACTCCAGGAAGTGAAAAT	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001arn.3																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(52-54)gGa>gAa		Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.							144.0	136.0	139.0					1																	10555347		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10555347G>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.53G>A	1.37:g.10555347G>A	ENSP00000349016:p.Gly18Glu		OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.G18E|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.G18E|PEX14_uc001arl.3_Non-coding_Transcript	p.G18E	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	1	74	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	18					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.53G>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655353	0.29425	.	.	ENSG00000142655	ENST00000356607	T	0.21191	2.02	5.19	4.07	0.47477	.	0.079541	0.50627	D	0.000112	T	0.09512	0.0234	N	0.17082	0.46	0.80722	D	1	B;B	0.17038	0.004;0.02	B;B	0.12837	0.007;0.008	T	0.13629	-1.0502	10	0.02654	T	1	.	7.5927	0.28029	0.1031:0.1863:0.7106:0.0	.	18;18	O75381-2;O75381	.;PEX14_HUMAN	E	18	ENSP00000349016:G18E	ENSP00000349016:G18E	G	+	2	0	PEX14	10477934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.419000	0.44671	2.413000	0.81919	0.655000	0.94253	GGA		0.428	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
PRAMEF2	65122	broad.mit.edu	37	1	12919972	12919972	+	Missense_Mutation	SNP	G	G	A	rs267597976		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:12919972G>A	ENST00000240189.2	+	3	799	c.712G>A	c.(712-714)Gtt>Att	p.V238I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	238					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAACTCGTTTTCTCCAG	0.448																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(712-714)Gtt>Att		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							111.0	114.0	113.0					1																	12919972		2203	4299	6502	SO:0001583	missense	65122							g.chr1:12919972G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.712G>A	1.37:g.12919972G>A	ENSP00000240189:p.Val238Ile						p.V238I	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	799	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	238						Missense_Mutation	SNP	ENST00000240189.2	37	c.712G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.065679	0.01934	.	.	ENSG00000120952	ENST00000240189	T	0.00932	5.53	0.842	-1.68	0.08212	.	2.814710	0.01347	N	0.011776	T	0.00695	0.0023	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.49011	-0.8983	10	0.12430	T	0.62	.	0.2009	0.00145	0.246:0.2595:0.2612:0.2333	.	238	O60811	PRAM2_HUMAN	I	238	ENSP00000240189:V238I	ENSP00000240189:V238I	V	+	1	0	PRAMEF2	12842559	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-3.821000	0.00358	-1.715000	0.01389	-1.111000	0.02071	GTT		0.448	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
ERICH3	127254	broad.mit.edu	37	1	75055329	75055329	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:75055329C>A	ENST00000326665.5	-	12	2380	c.2162G>T	c.(2161-2163)gGg>gTg	p.G721V	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G524V	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		721	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTCCAACCCAGGGAGACC	0.473																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2161-2163)gGg>gTg		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							290.0	280.0	283.0					1																	75055329		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055329C>A																												ENST00000326665.5:c.2162G>T	1.37:g.75055329C>A	ENSP00000322609:p.Gly721Val					CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G515V	p.G721V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	2381	-			721			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2162G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237639	0.39598	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.65;2.23	5.71	2.48	0.30137	.	.	.	.	.	T	0.07052	0.0179	L	0.29908	0.895	0.31395	N	0.677392	P;D	0.53151	0.828;0.958	B;P	0.51229	0.395;0.663	T	0.21143	-1.0254	9	0.32370	T	0.25	-2.4868	5.5347	0.17005	0.0:0.6229:0.0:0.3771	.	524;721	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	V	721;524	ENSP00000322609:G721V;ENSP00000398581:G524V	ENSP00000322609:G721V	G	-	2	0	C1orf173	74827917	0.192000	0.23301	0.292000	0.24919	0.668000	0.39293	1.047000	0.30367	0.768000	0.33290	0.643000	0.83706	GGG		0.473	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
GBP5	115362	broad.mit.edu	37	1	89732739	89732739	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:89732739A>T	ENST00000370459.3	-	5	653	c.526T>A	c.(526-528)Tta>Ata	p.L176I	GBP5_ENST00000343435.5_Missense_Mutation_p.L176I|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	176	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCACACTAAGTCTGGGAAG	0.493																																						uc001dnc.3																			0		p.D175Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(526-528)Tta>Ata		Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.							131.0	131.0	131.0					1																	89732739		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732739A>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.526T>A	1.37:g.89732739A>T	ENSP00000359488:p.Leu176Ile					GBP5_uc001dnd.3_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	p.L176I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	5	1063	-			176					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.526T>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420503	0.83559	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.79352	-1.26;-1.26;-1.26	4.5	2.15	0.27550	Guanylate-binding protein, N-terminal (1);	0.138983	0.46758	D	0.000272	T	0.65091	0.2658	L	0.60904	1.88	0.27529	N	0.951141	P	0.45768	0.866	P	0.49421	0.61	T	0.60796	-0.7192	10	0.87932	D	0	-4.6286	6.5291	0.22316	0.7763:0.0:0.2237:0.0	.	176	Q96PP8	GBP5_HUMAN	I	176	ENSP00000340396:L176I;ENSP00000359488:L176I;ENSP00000403010:L176I	ENSP00000340396:L176I	L	-	1	2	GBP5	89505327	0.994000	0.37717	0.995000	0.50966	0.960000	0.62799	3.694000	0.54742	0.372000	0.24591	0.369000	0.22263	TTA		0.493	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
TCHHL1	126637	broad.mit.edu	37	1	152058703	152058703	+	Silent	SNP	G	G	A	rs150195731	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:152058703G>A	ENST00000368806.1	-	3	1519	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	485							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCAGGTGCGTTTTTGCTGT	0.478																																						uc001ezo.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1453-1455)aaC>aaT		Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.		G		2,4404		0,2,2201	253.0	220.0	231.0		1455	-6.4	0.0	1	dbSNP_134	231	1,8599		0,1,4299	no	coding-synonymous	TCHHL1	NM_001008536.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		485/905	152058703	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058703G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1455C>T	1.37:g.152058703G>A							p.N485N	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	1520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		485					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1455C>T	CCDS30857.1																																																																																				0.478	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
RGS21	431704	broad.mit.edu	37	1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	rs369430749		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:192321267C>T	ENST00000417209.2	+	4	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	60	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16349	0.0		0.0	False		,,,				2504	0.0					uc001gsh.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(178-180)aCg>aTg		Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.		C	MET/THR	0,3690		0,0,1845	67.0	64.0	65.0		179	5.8	1.0	1		65	1,8223		0,1,4111	no	missense	RGS21	NM_001039152.3	81	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	60/153	192321267	1,11913	1845	4112	5957	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321267C>T	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.179C>T	1.37:g.192321267C>T	ENSP00000428343:p.Thr60Met						p.T60M	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			3	353	+			60			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.179C>T	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	0.0	1.22E-4	ENSG00000253148	ENST00000417209	T	0.29655	1.56	5.77	5.77	0.91146	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.34828	U	0.003657	T	0.49064	0.1535	L	0.46885	1.475	0.34163	D	0.668843	D	0.69078	0.997	D	0.63793	0.918	T	0.57734	-0.7760	10	0.62326	D	0.03	.	18.5418	0.91031	0.0:1.0:0.0:0.0	.	60	Q2M5E4	RGS21_HUMAN	M	60	ENSP00000428343:T60M	ENSP00000428343:T60M	T	+	2	0	RGS21	190587890	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	2.937000	0.48979	2.733000	0.93635	0.557000	0.71058	ACG		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2		
FAM58BP	339521	broad.mit.edu	37	1	200183231	200183231	+	IGR	SNP	C	C	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:200183231C>G								NR5A2 (36679 upstream) : RP11-532L16.3 (101331 downstream)																							TGCTGCGGGACAGCTACCACG	0.652																																						uc009wzi.1																			0				lung(1)	1						c.(538-540)gaC>gaG		Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.							33.0	36.0	35.0					1																	200183231		2203	4299	6502	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183231C>G																													1.37:g.200183231C>G							p.D180E	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			0	576	+			180						Missense_Mutation	SNP		37	c.540C>G																																																																																				0	0.652								
KCNH1	3756	broad.mit.edu	37	1	211192295	211192295	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:211192295G>A	ENST00000271751.4	-	6	889	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	KCNH1_ENST00000367007.4_Missense_Mutation_p.R288C			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGTTCATGCGGATAAGTTTG	0.448																																						uc001hib.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(862-864)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.							229.0	208.0	215.0					1																	211192295		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192295G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.862C>T	1.37:g.211192295G>A	ENSP00000271751:p.Arg288Cys					KCNH1_uc001hic.2_Missense_Mutation_p.R288C	p.R288C	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	1032	-			288					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.862C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364929	0.82463	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97791	-4.54;-4.54	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.40728	T	0.16	.	17.6077	0.88044	0.0:0.0:1.0:0.0	.	288;288	Q14CL3;O95259	.;KCNH1_HUMAN	C	288	ENSP00000271751:R288C;ENSP00000355974:R288C	ENSP00000271751:R288C	R	-	1	0	KCNH1	209258918	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.592000	0.82676	2.402000	0.81655	0.462000	0.41574	CGC		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
OBSCN	84033	broad.mit.edu	37	1	228479711	228479711	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:228479711G>A	ENST00000422127.1	+	39	10496	c.10452G>A	c.(10450-10452)ggG>ggA	p.G3484G	OBSCN_ENST00000366707.4_Silent_p.G603G|OBSCN_ENST00000366709.4_Silent_p.G603G|OBSCN_ENST00000570156.2_Silent_p.G3913G|OBSCN_ENST00000284548.11_Silent_p.G3484G|OBSCN_ENST00000359599.6_Silent_p.G2331G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3484	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGAAGGGGCCCGAGAACC	0.617																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10450-10452)ggG>ggA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							83.0	84.0	84.0					1																	228479711		2025	4166	6191	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479711G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10452G>A	1.37:g.228479711G>A						OBSCN_uc001hsn.3_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	p.G3484G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			38	10496	+		Prostate(94;0.0405)	3484			Ig-like 35.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10452G>A	CCDS58065.1																																																																																				0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2T6	254879	broad.mit.edu	37	1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:248551519G>A	ENST00000355728.2	+	1	610	c.610G>A	c.(610-612)Gtt>Att	p.V204I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGCTGCGTTGCAATGCT	0.517																																						uc001iei.1																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(610-612)Gtt>Att		Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.							286.0	214.0	238.0					1																	248551519		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551519G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.610G>A	1.37:g.248551519G>A	ENSP00000347965:p.Val204Ile						p.V204I	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	610	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		204					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.610G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	3.321	-0.138673	0.06669	.	.	ENSG00000198104	ENST00000355728	T	0.37584	1.19	4.13	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.176577	0.27486	N	0.019147	T	0.14141	0.0342	N	0.04994	-0.135	0.09310	N	1	D	0.55385	0.971	B	0.42112	0.376	T	0.12656	-1.0539	10	0.35671	T	0.21	.	3.22	0.06712	0.3614:0.0:0.3584:0.2803	.	204	Q8NHC8	OR2T6_HUMAN	I	204	ENSP00000347965:V204I	ENSP00000347965:V204I	V	+	1	0	OR2T6	246618142	0.000000	0.05858	0.020000	0.16555	0.005000	0.04900	0.409000	0.21082	0.155000	0.19261	-0.148000	0.13756	GTT		0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
EGR2	1959	broad.mit.edu	37	10	64573353	64573353	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:64573353G>A	ENST00000242480.3	-	2	1370	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	EGR2_ENST00000411732.1_Missense_Mutation_p.R299W|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.R349W	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	349					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGAACCGCCGGTCGCAGCCT	0.642																																						uc010qio.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1084-1086)Cgg>Tgg		Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.							51.0	57.0	55.0					10																	64573353		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573353G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1045C>T	10.37:g.64573353G>A	ENSP00000242480:p.Arg349Trp					EGR2_uc010qim.2_Missense_Mutation_p.R349W|EGR2_uc010qin.2_Missense_Mutation_p.R299W|EGR2_uc001jmi.3_Missense_Mutation_p.R349W|EGR2_uc009xph.3_Missense_Mutation_p.R349W	p.R362W	NM_001136179	NP_001129651	P11161	EGR2_HUMAN			2	1104	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		349					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1084C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726663	0.48833	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.16196	2.36;2.36;2.36	3.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.28776	-1.0033	10	0.87932	D	0	-11.9357	10.9706	0.47436	0.0:0.0:0.5081:0.4919	.	299;349	P11161-2;P11161	.;EGR2_HUMAN	W	349;349;299	ENSP00000242480:R349W;ENSP00000402040:R349W;ENSP00000387634:R299W	ENSP00000242480:R349W	R	-	1	2	EGR2	64243359	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.526000	0.35964	0.549000	0.28973	0.655000	0.94253	CGG		0.642	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
PCGF5	84333	broad.mit.edu	37	10	93038067	93038067	+	Silent	SNP	C	C	T	rs191746944		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:93038067C>T	ENST00000336126.5	+	10	997	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PCGF5_ENST00000543648.1_Silent_p.F255F	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAATTGATTTCGGTTAGACCA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20019	0.001		0.0	False		,,,				2504	0.0				Colon(178;732 2696 46441 50370)	uc001khi.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(763-765)ttC>ttT		Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.							127.0	116.0	120.0					10																	93038067		2203	4300	6503	SO:0001819	synonymous_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93038067C>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.765C>T	10.37:g.93038067C>T						PCGF5_uc001khh.3_Silent_p.F255F|PCGF5_uc010qnk.2_Silent_p.F255F	p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN			9	1173	+			255					B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	37	c.765C>T	CCDS7413.1																																																																																				0.388	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373	
OR5D13	390142	broad.mit.edu	37	11	55541269	55541269	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:55541269C>T	ENST00000361760.1	+	1	356	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGTTAGCAGCGATGGCTTAT	0.423																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(355-357)gCg>gTg		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							218.0	213.0	215.0					11																	55541269		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541269C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.356C>T	11.37:g.55541269C>T	ENSP00000354800:p.Ala119Val						p.A119V	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	356	+		all_epithelial(135;0.196)	119					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.356C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	c	0.029	-1.345409	0.01266	.	.	ENSG00000198877	ENST00000361760	T	0.01572	4.76	3.3	-4.43	0.03568	GPCR, rhodopsin-like superfamily (1);	0.589854	0.12667	N	0.449093	T	0.00580	0.0019	N	0.00621	-1.32	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39440	-0.9614	10	0.02654	T	1	-0.506	12.3245	0.55003	0.0:0.2439:0.0:0.7561	.	119	Q8NGL4	OR5DD_HUMAN	V	119	ENSP00000354800:A119V	ENSP00000354800:A119V	A	+	2	0	OR5D13	55297845	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.564000	0.00918	-1.384000	0.02103	-1.548000	0.00902	GCG		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5M9	390162	broad.mit.edu	37	11	56230864	56230864	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:56230864G>A	ENST00000279791.1	-	1	13	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTCACATCCGTGAAATTAGG	0.408																																						uc010rjj.2																			0		p.T5T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(13-15)aCg>aTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.							23.0	24.0	24.0					11																	56230864		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230864G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.14C>T	11.37:g.56230864G>A	ENSP00000279791:p.Thr5Met					OR8U8_uc001nit.2_Intron	p.T5M	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	14	-	Esophageal squamous(21;0.00448)		5					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.14C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920239	0.52653	.	.	ENSG00000150269	ENST00000279791	T	0.04809	3.55	4.79	3.81	0.43845	.	0.000000	0.42821	D	0.000641	T	0.24470	0.0593	M	0.89601	3.045	0.19575	N	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.03673	-1.1014	10	0.87932	D	0	-1.3461	11.7726	0.51967	0.0:0.0:0.8234:0.1765	.	5	Q8NGP3	OR5M9_HUMAN	M	5	ENSP00000279791:T5M	ENSP00000279791:T5M	T	-	2	0	OR5M9	55987440	0.143000	0.22626	0.946000	0.38457	0.813000	0.45954	0.515000	0.22801	2.349000	0.79799	0.549000	0.68633	ACG		0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
C11orf84	144097	broad.mit.edu	37	11	63585590	63585590	+	Silent	SNP	G	G	A	rs114963373	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:63585590G>A	ENST00000294244.4	+	2	740	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	147	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGAGCAGCCGTCCCCACCCA	0.587													g|||	3	0.000599042	0.0	0.0	5008	,	,		16828	0.003		0.0	False		,,,				2504	0.0					uc001nxt.3																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(439-441)ccG>ccA		Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.							60.0	64.0	62.0					11																	63585590		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63585590G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.441G>A	11.37:g.63585590G>A							p.P147P	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			1	677	+			147			Pro-rich.		Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.441G>A	CCDS31594.1																																																																																				0.587	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471	
CAPN1	823	broad.mit.edu	37	11	64950650	64950650	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:64950650A>G	ENST00000527323.1	+	2	559	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	CAPN1_ENST00000533129.1_Missense_Mutation_p.I107V|CAPN1_ENST00000533820.1_Missense_Mutation_p.I107V|CAPN1_ENST00000279247.6_Missense_Mutation_p.I107V|CAPN1_ENST00000524773.1_Missense_Mutation_p.I107V|CAPN1_ENST00000527469.1_3'UTR|AP003068.23_ENST00000526623.1_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	107	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGCACAGACATCTGCCAGGG	0.602																																						uc009yqd.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(319-321)Atc>Gtc		Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.							132.0	146.0	142.0					11																	64950650		1971	4186	6157	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64950650A>G	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.319A>G	11.37:g.64950650A>G	ENSP00000431984:p.Ile107Val					CAPN1_uc001odf.2_Missense_Mutation_p.I107V|CAPN1_uc001odg.2_Missense_Mutation_p.I107V|CAPN1_uc010roa.2_Intron	p.I107V	NM_001198868	NP_001185797	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	2	516	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	107			Calpain catalytic.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.319A>G	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519280	0.44866	.	.	ENSG00000014216	ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323	T;T;T;T;T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.51	3.35	0.38373	Peptidase C2, calpain, catalytic domain (3);	0.054048	0.64402	D	0.000001	T	0.14830	0.0358	L	0.39245	1.2	0.58432	D	0.999998	B	0.13145	0.007	B	0.25140	0.058	T	0.05037	-1.0910	10	0.40728	T	0.16	.	9.3439	0.38096	0.8192:0.1808:0.0:0.0	.	107	P07384	CAN1_HUMAN	V	107	ENSP00000435847:I107V;ENSP00000432512:I107V;ENSP00000435272:I107V;ENSP00000433823:I107V;ENSP00000431528:I107V;ENSP00000431686:I107V;ENSP00000434176:I107V;ENSP00000279247:I107V;ENSP00000431793:I107V;ENSP00000435092:I107V;ENSP00000431172:I107V;ENSP00000435198:I107V;ENSP00000431984:I107V	ENSP00000279247:I107V	I	+	1	0	CAPN1	64707226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.349000	0.59385	0.735000	0.32537	0.459000	0.35465	ATC		0.602	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
CABP2	51475	broad.mit.edu	37	11	67287267	67287267	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67287267C>T	ENST00000294288.4	-	6	703	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	CABP2_ENST00000353903.5_Missense_Mutation_p.E155K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	212	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGGGTACCTTCGAAGTCGACC	0.642																																						uc001ome.1																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						c.(652-654)Gaa>Aaa		Homo sapiens calcium binding protein 2 (CABP2), mRNA.							93.0	91.0	92.0					11																	67287267		2200	4295	6495	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287267C>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.634G>A	11.37:g.67287267C>T	ENSP00000294288:p.Glu212Lys					CABP2_uc001omc.1_Missense_Mutation_p.E212K	p.E218K			Q9NPB3	CABP2_HUMAN			5	740	-			212			EF-hand 4.			Missense_Mutation	SNP	ENST00000294288.4	37	c.652G>A	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706191	0.89018	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.09723	2.95;2.95	4.04	4.04	0.47022	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	L	0.48642	1.525	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.972;0.998	D;B;P	0.76575	0.988;0.373;0.9	T	0.01879	-1.1255	10	0.87932	D	0	.	14.9629	0.71169	0.0:1.0:0.0:0.0	.	218;155;212	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	155;212	ENSP00000312037:E155K;ENSP00000294288:E212K	ENSP00000294288:E212K	E	-	1	0	CABP2	67043843	1.000000	0.71417	0.997000	0.53966	0.772000	0.43724	7.118000	0.77137	2.098000	0.63641	0.462000	0.41574	GAA		0.642	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1		
ALDH3B2	222	broad.mit.edu	37	11	67433035	67433035	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67433035C>T	ENST00000349015.3	-	7	865	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.D143N|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	143					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GTCTGGGGGTCGCAGTTGTCG	0.637																																						uc001omr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(427-429)Gac>Aac		Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	NADH(DB00157)						118.0	128.0	125.0					11																	67433035		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433035C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.427G>A	11.37:g.67433035C>T	ENSP00000255084:p.Asp143Asn					ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N	p.D143N	NM_000695	NP_001026786	P48448	AL3B2_HUMAN			6	866	-			143					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.427G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882099	0.51908	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827	D;D;D	0.86097	-2.07;-2.07;-2.07	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.054360	0.64402	D	0.000001	T	0.81418	0.4818	L	0.49571	1.57	0.58432	D	0.999999	B;B	0.23990	0.095;0.095	B;B	0.27715	0.047;0.082	T	0.76828	-0.2815	10	0.16896	T	0.51	.	16.59	0.84762	0.0:1.0:0.0:0.0	.	28;143	B4DSX1;P48448	.;AL3B2_HUMAN	N	143	ENSP00000431595:D143N;ENSP00000255084:D143N;ENSP00000433718:D143N	ENSP00000255084:D143N	D	-	1	0	ALDH3B2	67189611	0.837000	0.29446	1.000000	0.80357	0.925000	0.55904	1.607000	0.36836	2.302000	0.77476	0.462000	0.41574	GAC		0.637	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
CLEC4D	338339	broad.mit.edu	37	12	8672917	8672917	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:8672917G>A	ENST00000299665.2	+	5	673	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TGGACCAGACGCCATTTAACC	0.423																																						uc001qun.3																			0		p.T160M(1)|p.Q159K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(478-480)acG>acA		Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.							92.0	93.0	93.0					12																	8672917		2203	4300	6503	SO:0001819	synonymous_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8672917G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.480G>A	12.37:g.8672917G>A							p.T160T	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			4	673	+	Lung SC(5;0.184)		160			C-type lectin.		Q8N5J5	Silent	SNP	ENST00000299665.2	37	c.480G>A	CCDS8593.1																																																																																				0.423	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387	
TRHDE	29953	broad.mit.edu	37	12	73015443	73015443	+	Missense_Mutation	SNP	A	A	G	rs199861881		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:73015443A>G	ENST00000261180.4	+	15	2548	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	818					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGAGAAGTTATAATGCTGGC	0.363																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2452-2454)Ata>Gta		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							77.0	71.0	73.0					12																	73015443		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73015443A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2452A>G	12.37:g.73015443A>G	ENSP00000261180:p.Ile818Val						p.I818V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			14	2482	+			818					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2452A>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854803	0.71719	.	.	ENSG00000072657	ENST00000261180	T	0.05199	3.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	L	0.41124	1.26	0.58432	D	0.999999	P	0.39094	0.659	B	0.38921	0.285	T	0.33954	-0.9848	10	0.33940	T	0.23	.	15.5626	0.76262	1.0:0.0:0.0:0.0	.	818	Q9UKU6	TRHDE_HUMAN	V	818	ENSP00000261180:I818V	ENSP00000261180:I818V	I	+	1	0	TRHDE	71301710	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.910000	0.92685	2.134000	0.65973	0.533000	0.62120	ATA		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
CCDC60	160777	broad.mit.edu	37	12	119968731	119968731	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:119968731G>A	ENST00000327554.2	+	13	1879	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	472										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTCCGCCCCGCCAAAAAGAT	0.483																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1414-1416)Gcc>Acc		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							87.0	85.0	85.0					12																	119968731		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119968731G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1414G>A	12.37:g.119968731G>A	ENSP00000333374:p.Ala472Thr					AF086288_uc001txf.3_Intron	p.A472T	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	12	1879	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		472						Missense_Mutation	SNP	ENST00000327554.2	37	c.1414G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117063	0.77323	.	.	ENSG00000183273	ENST00000327554	T	0.23754	1.89	5.82	5.82	0.92795	.	0.196730	0.36303	N	0.002666	T	0.46983	0.1421	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34378	-0.9831	9	.	.	.	-30.3014	11.005	0.47629	0.0848:0.0:0.9152:0.0	.	472	Q8IWA6	CCD60_HUMAN	T	472	ENSP00000333374:A472T	.	A	+	1	0	CCDC60	118453114	0.949000	0.32298	0.970000	0.41538	0.965000	0.64279	2.579000	0.46059	2.751000	0.94390	0.655000	0.94253	GCC		0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
TDRD3	81550	broad.mit.edu	37	13	61103056	61103056	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:61103056A>G	ENST00000196169.3	+	11	2206	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	TDRD3_ENST00000377894.2_Missense_Mutation_p.K473R|TDRD3_ENST00000535286.1_Missense_Mutation_p.K566R|TDRD3_ENST00000377881.2_Missense_Mutation_p.K473R	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	473					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAATTGAAAAACATTTTAAT	0.313																																					Colon(36;164 906 35820 50723)	uc001vhz.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1417-1419)aAa>aGa		Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.							29.0	32.0	31.0					13																	61103056		2202	4298	6500	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61103056A>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1418A>G	13.37:g.61103056A>G	ENSP00000196169:p.Lys473Arg					TDRD3_uc010aef.2_Missense_Mutation_p.K298R|TDRD3_uc001via.3_Missense_Mutation_p.K473R|TDRD3_uc010aeg.3_Missense_Mutation_p.K566R|TDRD3_uc001vib.4_Missense_Mutation_p.K472R	p.K473R	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	10	2206	+		Prostate(109;0.173)|Breast(118;0.174)	473					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.1418A>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.110946	0.37242	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.84	5.84	0.93424	.	0.384279	0.32473	N	0.006045	D	0.91509	0.7319	L	0.56769	1.78	0.41896	D	0.990399	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.11329	0.006;0.003;0.001	D	0.87879	0.2676	9	.	.	.	-21.4022	16.5317	0.84362	1.0:0.0:0.0:0.0	.	566;472;473	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	R	473;473;473;566	ENSP00000196169:K473R;ENSP00000367113:K473R;ENSP00000367126:K473R;ENSP00000440190:K566R	.	K	+	2	0	TDRD3	60001057	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.408000	0.66368	2.367000	0.80283	0.528000	0.53228	AAA		0.313	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
COL4A2	1284	broad.mit.edu	37	13	111077144	111077144	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:111077144G>A	ENST00000360467.5	+	5	550	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	82					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGATTCCCGGGACTGCAGGG	0.597																																						uc001vqx.3																			0		p.P81Q(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(244-246)Gga>Aga		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							82.0	91.0	88.0					13																	111077144		1916	4114	6030	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077144G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.244G>A	13.37:g.111077144G>A	ENSP00000353654:p.Gly82Arg						p.G82R	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		4	533	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	82					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.244G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151807	0.57151	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.99637	-6.29;-6.29	5.08	5.08	0.68730	.	0.000000	0.49916	D	0.000128	D	0.99806	0.9916	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96768	0.9566	10	0.87932	D	0	.	18.5643	0.91112	0.0:0.0:1.0:0.0	.	82	P08572	CO4A2_HUMAN	R	82	ENSP00000383027:G82R;ENSP00000353654:G82R	ENSP00000257309:G82R	G	+	1	0	COL4A2	109875145	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	8.259000	0.89855	2.395000	0.81488	0.650000	0.86243	GGA		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
RNASE10	338879	broad.mit.edu	37	14	20979116	20979116	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr14:20979116G>A	ENST00000328444.5	+	1	505	c.486G>A	c.(484-486)aaG>aaA	p.K162K	RNASE10_ENST00000430083.1_Silent_p.K190K	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	162					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTGAGCTCAAGGGGGGAAAAT	0.478																																						uc001vxp.2																			0				endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12						c.(568-570)aaG>aaA		Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.																																				SO:0001819	synonymous_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979116G>A		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.486G>A	14.37:g.20979116G>A						RNASE10_uc010tlj.2_Silent_p.K162K	p.K190K	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	974	+	all_cancers(95;0.00123)		162					A2RUQ3|B4DKY4	Silent	SNP	ENST00000328444.5	37	c.570G>A	CCDS32035.1																																																																																				0.478	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225	
CKMT1B	1159	broad.mit.edu	37	15	43890515	43890515	+	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr15:43890515T>G	ENST00000441322.1	+	7	1361	c.1001T>G	c.(1000-1002)cTg>cGg	p.L334R	CKMT1B_ENST00000300283.6_Missense_Mutation_p.L334R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	334	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AAACTGCCCCTGCTAAGCAAA	0.537																																						uc001zsc.3																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1000-1002)cTg>cGg		Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	Creatine(DB00148)						55.0	60.0	58.0					15																	43890515		2148	4276	6424	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43890515T>G	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1001T>G	15.37:g.43890515T>G	ENSP00000413255:p.Leu334Arg					CKMT1B_uc010uds.2_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc010bdj.3_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	p.L334R	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1393	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	334			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1001T>G	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	T	8.668	0.902163	0.17760	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.11169	2.8;2.8	4.43	4.43	0.53597	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.068181	0.64402	D	0.000014	T	0.14270	0.0345	M	0.62154	1.92	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.17098	0.014;0.017	T	0.02789	-1.1110	10	0.39692	T	0.17	0.0461	14.1308	0.65253	0.0:0.0:0.0:1.0	.	365;334	P12532-2;P12532	.;KCRU_HUMAN	R	334	ENSP00000300283:L334R;ENSP00000413255:L334R	ENSP00000300283:L334R	L	+	2	0	CKMT1B	41677807	0.649000	0.27322	1.000000	0.80357	0.996000	0.88848	1.936000	0.40183	1.983000	0.57843	0.402000	0.26972	CTG		0.537	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990	
CACNG3	10368	broad.mit.edu	37	16	24358110	24358110	+	Silent	SNP	C	C	T	rs368528326		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:24358110C>T	ENST00000005284.3	+	2	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	89					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y89*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562																																						uc002dmf.3																			1	Substitution - Nonsense(1)	p.Y89*(2)|p.D88Y(1)	ovary(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(265-267)taC>taT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.		C		1,4393	2.1+/-5.4	0,1,2196	88.0	80.0	83.0		267	-8.5	0.5	16		83	0,8600		0,0,4300	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		89/316	24358110	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358110C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.267C>T	16.37:g.24358110C>T							p.Y89Y	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1469	+			89						Silent	SNP	ENST00000005284.3	37	c.267C>T	CCDS10620.1																																																																																				0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
RPGRIP1L	23322	broad.mit.edu	37	16	53671674	53671674	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:53671674C>T	ENST00000379925.3	-	21	3203	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	RPGRIP1L_ENST00000262135.4_Silent_p.Q1017Q|RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000564374.1_Silent_p.Q1051Q|RPGRIP1L_ENST00000563746.1_Silent_p.Q1017Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1051					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTTCTGCAAGCTGACCTTCAG	0.373																																						uc002ehp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(3151-3153)caG>caA		Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.							162.0	150.0	154.0					16																	53671674		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53671674C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3153G>A	16.37:g.53671674C>T						RPGRIP1L_uc002eho.4_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.2_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	p.Q1051Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			20	3217	-		all_cancers(37;0.0973)	1051					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.3153G>A	CCDS32447.1																																																																																				0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
MVD	4597	broad.mit.edu	37	16	88724388	88724388	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:88724388C>T	ENST00000301012.3	-	3	220	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	64					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCAAATCCGGTCCTCGGT	0.617																																						uc002flg.1																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(190-192)cGg>cAg		Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.							72.0	78.0	76.0					16																	88724388		2198	4300	6498	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88724388C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.191G>A	16.37:g.88724388C>T	ENSP00000301012:p.Arg64Gln					MVD_uc002flf.1_5'Flank	p.R64Q	NM_002461	NP_002452	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	2	198	-			64					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.191G>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682767	0.68157	.	.	ENSG00000167508	ENST00000301012	T	0.43688	0.94	4.99	4.99	0.66335	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.124545	0.56097	D	0.000036	T	0.36248	0.0960	L	0.43554	1.36	0.80722	D	1	B	0.26809	0.16	B	0.06405	0.002	T	0.11743	-1.0575	10	0.33940	T	0.23	-15.163	17.3653	0.87362	0.0:1.0:0.0:0.0	.	64	P53602	MVD1_HUMAN	Q	64	ENSP00000301012:R64Q	ENSP00000301012:R64Q	R	-	2	0	MVD	87251889	0.999000	0.42202	0.991000	0.47740	0.482000	0.33219	4.160000	0.58164	2.457000	0.83068	0.549000	0.68633	CGG		0.617	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461	
PER1	5187	broad.mit.edu	37	17	8053154	8053154	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr17:8053154G>A	ENST00000317276.4	-	5	807	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PER1_ENST00000581082.1_Silent_p.G190G|PER1_ENST00000354903.5_Silent_p.G174G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	190					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCAAGGCTCGCCCTCCTCCA	0.602			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.3				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(568-570)ggC>ggT	Other conserved DNA damage response genes	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.							201.0	193.0	196.0					17																	8053154		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053154G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.570C>T	17.37:g.8053154G>A						PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	p.G190G	NM_002616	NP_002607	O15534	PER1_HUMAN			4	808	-			190					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.570C>T	CCDS11131.1																																																																																				0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
MADCAM1	8174	broad.mit.edu	37	19	498515	498515	+	Silent	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:498515C>A	ENST00000215637.3	+	3	403	c.357C>A	c.(355-357)acC>acA	p.T119T	MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000346144.4_Silent_p.T119T|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Silent_p.T24T	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	119	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCTGACCGTCTCCCCAG	0.697																																						uc002los.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(355-357)acC>acA		Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.							25.0	33.0	30.0					19																	498515		2202	4299	6501	SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498515C>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.357C>A	19.37:g.498515C>A						MADCAM1_uc002lot.3_Silent_p.T119T|MADCAM1_uc010drq.3_Silent_p.T24T	p.T119T	NM_130760	NP_570116	Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	367	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	119			Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.357C>A	CCDS12028.1																																																																																				0.697	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
HMHA1	23526	broad.mit.edu	37	19	1068628	1068628	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:1068628G>A	ENST00000313093.2	+	2	537	c.306G>A	c.(304-306)gaG>gaA	p.E102E	HMHA1_ENST00000590214.1_Silent_p.E129E|HMHA1_ENST00000586866.1_Silent_p.E106E|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000539243.2_Silent_p.E118E|HMHA1_ENST00000592335.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	102					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGGGCGAGCTGCCCACCG	0.716																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(304-306)gaG>gaA		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							17.0	18.0	17.0					19																	1068628		2150	4207	6357	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068628G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.306G>A	19.37:g.1068628G>A						HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	p.E102E	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	537	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	102					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.306G>A	CCDS32863.1																																																																																				0.716	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		
PIP5K1C	23396	broad.mit.edu	37	19	3653547	3653547	+	Missense_Mutation	SNP	T	T	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:3653547T>C	ENST00000335312.3	-	7	750	c.662A>G	c.(661-663)tAt>tGt	p.Y221C	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.Y221C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.Y221C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.Y221C	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	221	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GTACAGCCCATAGAACTTGGG	0.642																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.2																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(661-663)tAt>tGt		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.							93.0	77.0	82.0					19																	3653547		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3653547T>C	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.662A>G	19.37:g.3653547T>C	ENSP00000335333:p.Tyr221Cys					PIP5K1C_uc010xhq.2_Missense_Mutation_p.Y221C|PIP5K1C_uc010xhr.2_Missense_Mutation_p.Y221C	p.Y221C	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	6	751	-		Hepatocellular(1079;0.137)	221			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.662A>G	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133248	0.37630	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.39592	1.07;1.07;1.07	4.57	4.57	0.56435	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.058503	0.64402	D	0.000001	T	0.53753	0.1816	M	0.84773	2.715	0.48511	D	0.999666	B;B	0.32302	0.313;0.363	B;B	0.39339	0.267;0.297	T	0.61720	-0.7005	10	0.87932	D	0	-17.342	13.0956	0.59190	0.0:0.0:0.0:1.0	.	221;221	O60331-3;O60331	.;PI51C_HUMAN	C	221	ENSP00000335333:Y221C;ENSP00000445992:Y221C;ENSP00000444779:Y221C	ENSP00000335333:Y221C	Y	-	2	0	PIP5K1C	3604547	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	5.014000	0.64029	1.686000	0.51046	0.402000	0.26972	TAT		0.642	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	
CYP4F3	4051	broad.mit.edu	37	19	15760895	15760895	+	Missense_Mutation	SNP	C	C	T	rs141338088		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:15760895C>T	ENST00000221307.8	+	7	867	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	CYP4F3_ENST00000586182.2_Missense_Mutation_p.R274W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R274W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R274W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	274					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATCCAGGAGCGGCGCCGCAC	0.567													.|||	1	0.000199681	0.0	0.0	5008	,	,		18934	0.0		0.001	False		,,,				2504	0.0					uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(820-822)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404		0,2,2201	107.0	97.0	101.0		820,820,820	2.9	0.9	19	dbSNP_134	101	10,8590		0,10,4290	no	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	101,101,101	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	possibly-damaging,possibly-damaging,possibly-damaging	274/521,274/521,274/521	15760895	12,12994	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760895C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.820C>T	19.37:g.15760895C>T	ENSP00000221307:p.Arg274Trp					CYP4F3_uc010xol.2_Missense_Mutation_p.R274W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R274W|CYP4F3_uc010xom.2_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.3_Missense_Mutation_p.R274W|CYP4F3_uc010xon.2_5'UTR	p.R274W	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			6	870	+			274					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.820C>T	CCDS12332.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	.	15.60	2.881684	0.51908	4.54E-4	0.001163	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.82081	-1.57	3.99	2.92	0.33932	.	0.094390	0.41712	U	0.000838	D	0.90549	0.7038	H	0.95645	3.7	0.53005	D	0.999965	P;P	0.46912	0.886;0.705	P;P	0.53760	0.734;0.734	D	0.90434	0.4426	10	0.87932	D	0	.	9.1411	0.36903	0.3919:0.6081:0.0:0.0	.	274;274	B7Z8Z3;Q08477	.;CP4F3_HUMAN	W	201;274	ENSP00000221307:R274W	ENSP00000221307:R274W	R	+	1	2	CYP4F3	15621895	1.000000	0.71417	0.905000	0.35620	0.766000	0.43426	2.325000	0.43840	0.641000	0.30601	0.313000	0.20887	CGG		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
ZNF208	7757	broad.mit.edu	37	19	22155163	22155163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:22155163A>T	ENST00000397126.4	-	4	2821	c.2673T>A	c.(2671-2673)tgT>tgA	p.C891*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTCTTCACATTTGTAGG	0.378																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2671-2673)tgT>tgA		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							45.0	48.0	47.0					19																	22155163		2086	4222	6308	SO:0001587	stop_gained	7757							g.chr19:22155163A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2673T>A	19.37:g.22155163A>T	ENSP00000380315:p.Cys891*					ZNF208_uc002nqo.1_Intron	p.C891*	NM_007153	NP_009084					3	2822	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.2673T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	37	6.112005	0.97291	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.58	0.211	0.15236	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2122	0.03951	0.4728:0.0:0.2961:0.231	.	.	.	.	X	891;791	.	ENSP00000380315:C891X	C	-	3	2	ZNF208	21947003	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-1.433000	0.02428	-0.464000	0.06963	0.240000	0.17902	TGT		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
EML2	24139	broad.mit.edu	37	19	46127976	46127976	+	Splice_Site	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:46127976C>T	ENST00000245925.3	-	9	892		c.e9+1		EML2_ENST00000589876.1_Splice_Site|EML2_ENST00000536630.1_Splice_Site|EML2_ENST00000587152.1_Splice_Site|EML2_ENST00000586902.1_Splice_Site	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2						negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGACACTGACCTTTGCCCCA	0.507																																						uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.e12+1		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							82.0	60.0	68.0					19																	46127976		2203	4300	6503	SO:0001630	splice_region_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46127976C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.841+1G>A	19.37:g.46127976C>T						EML2_uc002pcn.3_Splice_Site_p.G281_splice|EML2_uc002pcp.3_Splice_Site_p.G165_splice|EML2_uc002pco.3_Splice_Site|EML2_uc010xxl.2_Splice_Site_p.G428_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.2_Splice_Site_p.G281_splice|EML2_uc010ekj.3_Intron|EML2_uc010ekk.1_Splice_Site	p.G482_splice	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	12	1517	-		Ovarian(192;0.179)|all_neural(266;0.224)	281					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Splice_Site	SNP	ENST00000245925.3	37	c.1444_splice	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219436	0.79464	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.819	0.63309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EML2	50819816	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.081000	0.76844	2.117000	0.64856	0.650000	0.86243	.		0.507	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	Intron
SIGLEC9	27180	broad.mit.edu	37	19	51633283	51633283	+	Silent	SNP	C	C	A	rs141580830	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:51633283C>A	ENST00000250360.3	+	7	1406	c.1339C>A	c.(1339-1341)Cgg>Agg	p.R447R	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	447					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTGGGACTCGCGGGGACAGGA	0.602																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.							66.0	63.0	64.0					19																	51633283		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633283C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1339C>A	19.37:g.51633283C>A						SIGLEC9_uc002pvu.3_Silent_p.R447R		NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)			+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37		CCDS12825.1																																																																																				0.602	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
BIRC8	112401	broad.mit.edu	37	19	53792992	53792993	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:53792992_53792993insG	ENST00000426466.1	-	1	1882_1883	c.635_636insC	c.(634-636)caafs	p.Q212fs		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	212					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTCAGCACATTGTTTACAAGT	0.426																																						uc002qbk.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(634-636)caafs		Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.																																				SO:0001589	frameshift_variant	112401				apoptosis		zinc ion binding	g.chr19:53792992_53792993insG	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.635_636insC	19.37:g.53792992_53792993insG	ENSP00000412957:p.Gln212fs						p.Q212fs	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	0	1883_1884	-			212					Q6IPY1|Q96RW5	Frame_Shift_Ins	INS	ENST00000426466.1	37	c.635_636insC	CCDS12863.1																																																																																				0.426	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
NLRP11	204801	broad.mit.edu	37	19	56300621	56300621	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:56300621A>T	ENST00000589093.1	-	8	2751	c.2658T>A	c.(2656-2658)caT>caA	p.H886Q	NLRP11_ENST00000589824.2_Missense_Mutation_p.H832Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.H832Q|NLRP11_ENST00000443188.1_Missense_Mutation_p.H886Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.H787Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	886							ATP binding (GO:0005524)|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)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAGTTGGGATGTCTCAAAC	0.453																																						uc010ygf.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2656-2658)caT>caA		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.							128.0	124.0	125.0					19																	56300621		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300621A>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2658T>A	19.37:g.56300621A>T	ENSP00000466285:p.His886Gln					NLRP11_uc002qlz.3_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.3_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.3_Non-coding_Transcript	p.H886Q	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3369	-		Colorectal(82;0.0002)	886					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2658T>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.411470	0.25465	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.37058	1.22;1.22	2.85	-5.71	0.02413	.	.	.	.	.	T	0.32041	0.0816	L	0.42245	1.32	0.09310	N	1	P;P	0.48503	0.609;0.911	B;P	0.51582	0.258;0.674	T	0.16897	-1.0387	9	0.51188	T	0.08	.	3.4432	0.07472	0.191:0.1516:0.5076:0.1499	.	886;832	P59045;P59045-2	NAL11_HUMAN;.	Q	886;832	ENSP00000409898:H886Q;ENSP00000353251:H832Q	ENSP00000353251:H832Q	H	-	3	2	NLRP11	60992433	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-1.191000	0.03055	-1.891000	0.01109	-0.451000	0.05528	CAT		0.453	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
HK2	3099	broad.mit.edu	37	2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	rs567201785		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:75081444C>T	ENST00000290573.2	+	2	688	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	HK2_ENST00000409174.1_Missense_Mutation_p.R2C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	30	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488																																						uc002snd.3																			1	Substitution - Missense(1)	p.R30C(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(88-90)Cgc>Tgc		Homo sapiens hexokinase 2 (HK2), mRNA.							242.0	252.0	248.0					2																	75081444		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081444C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.88C>T	2.37:g.75081444C>T	ENSP00000290573:p.Arg30Cys						p.R30C	NM_000189	NP_000180	P52789	HXK2_HUMAN			1	2014	+			30			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.88C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772471	0.90108	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98550	-4.99;-4.99	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.191170	0.47852	D	0.000216	D	0.98579	0.9525	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.98640	1.0675	10	0.48119	T	0.1	-13.6651	16.123	0.81375	0.0:1.0:0.0:0.0	.	30	P52789	HXK2_HUMAN	C	30;30;2	ENSP00000290573:R30C;ENSP00000387140:R2C	ENSP00000290573:R30C	R	+	1	0	HK2	74934952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CGC		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						uc002ths.2																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	central_nervous_system(1)	1						c.(5278-5280)Cct>Gct		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	p.P1760A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN			22	5470	-			1760					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	
PSD4	23550	broad.mit.edu	37	2	113955141	113955141	+	Splice_Site	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:113955141C>T	ENST00000245796.6	+	13	2582	c.2387C>T	c.(2386-2388)aCg>aTg	p.T796M	PSD4_ENST00000441564.3_Splice_Site_p.T768M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	796	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGAACAGCGCCATGGGGC	0.552																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e13-1		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.							93.0	76.0	82.0					2																	113955141		2203	4300	6503	SO:0001630	splice_region_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955141C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2387-1C>T	2.37:g.113955141C>T						PSD4_uc002tjd.3_Splice_Site_p.T417_splice|PSD4_uc002tje.3_Splice_Site_p.T767_splice|PSD4_uc002tjf.3_Splice_Site_p.T417_splice|PSD4_uc002tjg.3_5'UTR|PSD4_uc010yxs.2_Missense_Mutation_p.A27V|PSD4_uc002tjh.3_5'Flank	p.T796_splice	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			13	2570	+			796			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2387_splice	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838586	0.91117	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.79554	-1.28;-1.28	4.29	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.054079	0.64402	D	0.000001	D	0.90137	0.6918	M	0.89095	3.005	0.48185	D	0.999605	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.947;0.988	D	0.91731	0.5396	10	0.87932	D	0	.	12.2513	0.54599	0.0:1.0:0.0:0.0	.	454;768;796	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	M	796;768;10	ENSP00000245796:T796M;ENSP00000413997:T768M	ENSP00000245796:T796M	T	+	2	0	PSD4	113671612	1.000000	0.71417	0.624000	0.29186	0.929000	0.56500	4.933000	0.63484	1.947000	0.56498	0.561000	0.74099	ACG		0.552	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	Missense_Mutation
TMEM163	81615	broad.mit.edu	37	2	135215640	135215640	+	Missense_Mutation	SNP	C	C	T	rs145243913		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:135215640C>T	ENST00000281924.6	-	7	836	c.772G>A	c.(772-774)Gtt>Att	p.V258I		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	258						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGATCAGAACGCCTATGCTG	0.552																																						uc002ttx.3																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(772-774)Gtt>Att		Homo sapiens transmembrane protein 163 (TMEM163), mRNA.		C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	164.0	142.0	149.0		772	3.9	0.8	2	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM163	NM_030923.4	29	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	258/290	135215640	5,13001	2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135215640C>T		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.772G>A	2.37:g.135215640C>T	ENSP00000281924:p.Val258Ile					TMEM163_uc002tty.3_Non-coding_Transcript	p.V258I	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	6	838	-			258					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.772G>A	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781883	0.16189	9.08E-4	1.16E-4	ENSG00000152128	ENST00000281924	T	0.61158	0.13	4.79	3.92	0.45320	.	0.178102	0.49916	N	0.000133	T	0.24890	0.0604	N	0.02960	-0.455	0.35438	D	0.794637	B	0.30021	0.265	B	0.20577	0.03	T	0.30621	-0.9972	10	0.07175	T	0.84	.	9.3733	0.38268	0.0:0.8333:0.0:0.1667	.	258	Q8TC26	TM163_HUMAN	I	258	ENSP00000281924:V258I	ENSP00000281924:V258I	V	-	1	0	TMEM163	134932110	0.980000	0.34600	0.794000	0.32065	0.846000	0.48090	2.525000	0.45598	1.023000	0.39654	-0.347000	0.07816	GTT		0.552	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923	
GALNT13	114805	broad.mit.edu	37	2	155102330	155102330	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:155102330C>T	ENST00000392825.3	+	7	1259	c.692C>T	c.(691-693)aCg>aTg	p.T231M	GALNT13_ENST00000409237.1_Missense_Mutation_p.T231M	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	231					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCAGGAAAACGGTTGTCTGC	0.323																																						uc002tyt.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(691-693)aCg>aTg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.							117.0	116.0	116.0					2																	155102330		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102330C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.692C>T	2.37:g.155102330C>T	ENSP00000376570:p.Thr231Met					GALNT13_uc002tyr.4_Missense_Mutation_p.T231M|GALNT13_uc010foc.1_Missense_Mutation_p.T50M|GALNT13_uc010fod.3_5'UTR	p.T231M	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			4	796	+			231					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.692C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831413	0.71258	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59364	0.27;0.27	5.37	5.37	0.77165	Glycosyl transferase, family 2 (1);	0.048700	0.85682	D	0.000000	T	0.74253	0.3692	M	0.64404	1.975	0.53688	D	0.999979	D;P;D	0.61697	0.99;0.763;0.99	D;P;D	0.71656	0.974;0.749;0.974	T	0.75827	-0.3180	10	0.72032	D	0.01	.	18.5273	0.90976	0.0:1.0:0.0:0.0	.	231;231;231	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	M	231	ENSP00000376570:T231M;ENSP00000387239:T231M	ENSP00000376570:T231M	T	+	2	0	GALNT13	154810576	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.777000	0.62361	2.702000	0.92279	0.644000	0.83932	ACG		0.323	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
TTN	7273	broad.mit.edu	37	2	179572434	179572434	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:179572434C>A	ENST00000591111.1	-	98	28133	c.27909G>T	c.(27907-27909)agG>agT	p.R9303S	TTN_ENST00000342992.6_Missense_Mutation_p.R8376S|TTN_ENST00000589042.1_Missense_Mutation_p.R9620S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13421	Ig-like 76.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACTGGATCCTAATTGGCT	0.498																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25126-25128)agG>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							103.0	97.0	99.0					2																	179572434		1940	4139	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572434C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27909G>T	2.37:g.179572434C>A	ENSP00000465570:p.Arg9303Ser					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	p.R8376S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	25353	-			9303			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25128G>T		.	.	.	.	.	.	.	.	.	.	C	12.99	2.103218	0.37145	.	.	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.4	3.46	0.39613	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44726	0.1307	N	0.11651	0.15	0.80722	D	1	P	0.35656	0.514	B	0.39217	0.294	T	0.51513	-0.8696	9	0.87932	D	0	.	10.2436	0.43328	0.0:0.6724:0.257:0.0705	.	9303	Q8WZ42	TITIN_HUMAN	S	8376	ENSP00000343764:R8376S	ENSP00000343764:R8376S	R	-	3	2	TTN	179280679	0.998000	0.40836	1.000000	0.80357	0.851000	0.48451	0.856000	0.27818	1.386000	0.46466	0.655000	0.94253	AGG		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PDE1A	5136	broad.mit.edu	37	2	183094871	183094871	+	Silent	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:183094871A>G	ENST00000410103.1	-	7	668	c.585T>C	c.(583-585)atT>atC	p.I195I	PDE1A_ENST00000331935.6_Silent_p.I195I|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Silent_p.I91I|PDE1A_ENST00000435564.1_Silent_p.I195I|PDE1A_ENST00000409365.1_Silent_p.I179I|PDE1A_ENST00000456212.1_Silent_p.I195I|PDE1A_ENST00000351439.5_Silent_p.I179I|PDE1A_ENST00000346717.4_Silent_p.I161I|PDE1A_ENST00000358139.2_Silent_p.I195I	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	195	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AAGAAACAGGAATCTGTGGAA	0.348																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(583-585)atT>atC		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							65.0	67.0	66.0					2																	183094871		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183094871A>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.585T>C	2.37:g.183094871A>G						PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.3_Silent_p.I179I|PDE1A_uc002uou.3_Silent_p.I161I	p.I195I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		6	669	-			195			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.585T>C	CCDS33344.1																																																																																				0.348	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
COL6A3	1293	broad.mit.edu	37	2	238277593	238277593	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:238277593G>A	ENST00000295550.4	-	10	4965	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	COL6A3_ENST00000472056.1_Missense_Mutation_p.R898C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1305C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1304C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1299C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1299C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1505	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCTCAGGCGCCGTATGGCG	0.537																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4513-4515)Cgc>Tgc		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							45.0	46.0	46.0					2																	238277593		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277593G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4513C>T	2.37:g.238277593G>A	ENSP00000295550:p.Arg1505Cys					COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	p.R1505C	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4798	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1505			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4513C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261187	0.23051	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.36	4.49	0.54785	von Willebrand factor, type A (3);	0.123529	0.37857	N	0.001906	D	0.89904	0.6850	M	0.91140	3.18	0.39217	D	0.963437	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.988;0.861	D	0.92559	0.6056	10	0.72032	D	0.01	.	13.9495	0.64106	0.073:0.0:0.927:0.0	.	898;1299;1505	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	C	1505;1304;1299;898;1299;1305	ENSP00000295550:R1505C;ENSP00000315609:R1304C;ENSP00000315873:R1299C;ENSP00000418285:R898C;ENSP00000386844:R1299C;ENSP00000295546:R1305C	ENSP00000295550:R1505C	R	-	1	0	COL6A3	237942332	0.997000	0.39634	0.374000	0.26016	0.210000	0.24377	3.942000	0.56614	1.268000	0.44264	0.655000	0.94253	CGC		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
APCDD1L	164284	broad.mit.edu	37	20	57035877	57035877	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr20:57035877A>T	ENST00000371149.3	-	4	1705	c.1475T>A	c.(1474-1476)gTt>gAt	p.V492D	APCDD1L_ENST00000491015.1_5'Flank|APCDD1L_ENST00000439429.1_Missense_Mutation_p.V503D	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	492						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CAGCCCTAGAACTAGGGGCAG	0.612																																						uc010zzp.1																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1507-1509)gTt>gAt		Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.							45.0	41.0	42.0					20																	57035877		2203	4300	6503	SO:0001583	missense	164284					integral to membrane		g.chr20:57035877A>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1475T>A	20.37:g.57035877A>T	ENSP00000360191:p.Val492Asp					APCDD1L_uc002xze.1_Missense_Mutation_p.V492D	p.V503D	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1832	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		492						Missense_Mutation	SNP	ENST00000371149.3	37	c.1508T>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495562	0.44352	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17054	2.32;2.3	3.88	1.04	0.20106	.	1.673140	0.03612	N	0.234950	T	0.13157	0.0319	N	0.24115	0.695	0.09310	N	1	P;P	0.44195	0.828;0.828	B;B	0.39531	0.302;0.302	T	0.26430	-1.0103	10	0.62326	D	0.03	.	6.8413	0.23965	0.5222:0.0:0.4778:0.0	.	503;492	F5H6V6;Q8NCL9	.;APCDL_HUMAN	D	492;503	ENSP00000360191:V492D;ENSP00000413261:V503D	ENSP00000360191:V492D	V	-	2	0	APCDD1L	56469283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.866000	0.27954	0.073000	0.16731	0.482000	0.46254	GTT		0.612	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360	
LARGE	9215	broad.mit.edu	37	22	34046457	34046457	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr22:34046457A>T	ENST00000354992.2	-	4	875	c.304T>A	c.(304-306)Tac>Aac	p.Y102N	LARGE_ENST00000337431.2_Missense_Mutation_p.Y102N|LARGE_ENST00000437602.2_Missense_Mutation_p.Y102N|LARGE_ENST00000397394.2_Missense_Mutation_p.Y102N|LARGE_ENST00000402320.1_Missense_Mutation_p.Y102N	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	102					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATGGAGTAGGTCTTGGAG	0.667																																					Colon(70;397 1175 4573 19089 45288)	uc003and.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(304-306)Tac>Aac		Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.							70.0	65.0	67.0					22																	34046457		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046457A>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.304T>A	22.37:g.34046457A>T	ENSP00000347088:p.Tyr102Asn					LARGE_uc003ane.4_Missense_Mutation_p.Y102N|LARGE_uc010gwp.3_Missense_Mutation_p.Y102N|LARGE_uc011ame.2_Missense_Mutation_p.Y34N|LARGE_uc011amf.2_Missense_Mutation_p.Y102N	p.Y102N	NM_004737	NP_598397	O95461	LARGE_HUMAN			3	883	-		Lung NSC(1;0.219)	102					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.304T>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276076	0.23307	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51071	1.21;1.2;1.21;1.2;0.72;1.52;1.44;1.43	5.6	5.6	0.85130	.	0.062448	0.64402	D	0.000004	T	0.29588	0.0738	N	0.08118	0	0.80722	D	1	B;B;B	0.22003	0.008;0.063;0.037	B;B;B	0.24006	0.014;0.05;0.014	T	0.12604	-1.0541	10	0.17832	T	0.49	-2.3481	15.7816	0.78264	1.0:0.0:0.0:0.0	.	102;102;102	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	N	102	ENSP00000347088:Y102N;ENSP00000336636:Y102N;ENSP00000380549:Y102N;ENSP00000385223:Y102N;ENSP00000388544:Y102N;ENSP00000396277:Y102N;ENSP00000415546:Y102N;ENSP00000389605:Y102N	ENSP00000336636:Y102N	Y	-	1	0	LARGE	32376457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.774000	0.68906	2.125000	0.65367	0.460000	0.39030	TAC		0.667	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
RBMS3	27303	broad.mit.edu	37	3	29985717	29985717	+	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:29985717T>G	ENST00000383767.2	+	12	1406	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S	RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000434693.2_Missense_Mutation_p.I356S|RBMS3_ENST00000452462.1_Intron|RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000396583.3_Intron|RBMS3_ENST00000383766.2_Missense_Mutation_p.I339S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	357					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAAGACAGGATTATGATACTC	0.388																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1069-1071)aTt>aGt		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							110.0	102.0	105.0					3																	29985717		2203	4299	6502	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29985717T>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1070T>G	3.37:g.29985717T>G	ENSP00000373277:p.Ile357Ser					RBMS3_uc010hfq.3_Intron|RBMS3_uc003cek.3_Intron|RBMS3_uc010hfr.3_Intron|RBMS3_uc003cem.3_Missense_Mutation_p.I339S	p.I357S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			11	1440	+		Ovarian(412;0.0956)	357					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1070T>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.422071	0.25639	.	.	ENSG00000144642	ENST00000434693;ENST00000383767;ENST00000383766	T;T;T	0.25414	1.81;1.8;1.97	4.76	4.76	0.60689	.	0.658250	0.14590	N	0.310283	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12400	-1.0549	9	.	.	.	.	11.2415	0.48972	0.0:0.0:0.0:1.0	.	339;357	Q6XE24-3;Q6XE24	.;RBMS3_HUMAN	S	356;357;339	ENSP00000395592:I356S;ENSP00000373277:I357S;ENSP00000373276:I339S	.	I	+	2	0	RBMS3	29960721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.374000	0.52402	2.091000	0.63221	0.528000	0.53228	ATT		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
ITIH1	3697	broad.mit.edu	37	3	52825916	52825916	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:52825916G>A	ENST00000273283.2	+	22	2749	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.D767N|ITIH3_ENST00000449956.2_5'Flank|ITIH1_ENST00000405128.3_Missense_Mutation_p.D275N|ITIH1_ENST00000537050.1_Missense_Mutation_p.D621N|ITIH3_ENST00000416872.2_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	909	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TATCGTCCCCGACATCTTCTG	0.607																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2725-2727)Gac>Aac		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.							120.0	108.0	112.0					3																	52825916		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52825916G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2725G>A	3.37:g.52825916G>A	ENSP00000273283:p.Asp909Asn					ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D767N|ITIH1_uc021wzg.1_Missense_Mutation_p.D621N|ITIH1_uc021wzh.1_Missense_Mutation_p.D621N|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	p.D909N	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	21	2755	+			909			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2725G>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747751	0.15710	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11712	4.91;4.77;4.61;4.05;2.75	5.66	2.45	0.29901	.	0.441469	0.25135	N	0.032878	T	0.06050	0.0157	L	0.31294	0.92	0.09310	N	0.999995	B;B;B	0.24651	0.011;0.108;0.108	B;B;B	0.15870	0.009;0.014;0.014	T	0.41142	-0.9525	10	0.08599	T	0.76	-15.6363	7.3512	0.26691	0.382:0.0:0.618:0.0	.	767;275;909	F5H165;B5MCP1;P19827	.;.;ITIH1_HUMAN	N	909;767;621;462;275	ENSP00000273283:D909N;ENSP00000443973:D767N;ENSP00000443847:D621N;ENSP00000395836:D462N;ENSP00000384589:D275N	ENSP00000273283:D909N	D	+	1	0	ITIH1	52800956	0.740000	0.28207	0.212000	0.23672	0.364000	0.29643	2.053000	0.41326	0.752000	0.32923	0.591000	0.81541	GAC		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
MAN2B2	23324	broad.mit.edu	37	4	6594914	6594914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:6594914G>A	ENST00000285599.3	+	6	731	c.695G>A	c.(694-696)tGg>tAg	p.W232*	MAN2B2_ENST00000504248.1_Nonsense_Mutation_p.W232*	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	232					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGATTTTACTGGAATGGCGTG	0.582																																						uc003gjf.1																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(694-696)tGg>tAg		Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.							125.0	109.0	114.0					4																	6594914		2203	4300	6503	SO:0001587	stop_gained	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6594914G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.695G>A	4.37:g.6594914G>A	ENSP00000285599:p.Trp232*					MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	p.W232*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			5	731	+			232					Q66MP2|Q86T67	Nonsense_Mutation	SNP	ENST00000285599.3	37	c.695G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.002103|6.002103	0.97189|0.97189	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|.	.|.	.|.	4.58|4.58	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27205|.	0.0667|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30060|.	-0.9991|.	3|.	.|0.02654	.|T	.|1	-20.4777|-20.4777	11.8276|11.8276	0.52275|0.52275	0.0871:0.0:0.9129:0.0|0.0871:0.0:0.9129:0.0	.|.	.|.	.|.	.|.	R|X	231|232	.|.	.|ENSP00000285599:W232X	G|W	+|+	1|2	0|0	MAN2B2|MAN2B2	6645815|6645815	1.000000|1.000000	0.71417|0.71417	0.874000|0.874000	0.34290|0.34290	0.873000|0.873000	0.50193|0.50193	6.410000|6.410000	0.73294|0.73294	0.906000|0.906000	0.36621|0.36621	0.549000|0.549000	0.68633|0.68633	GGA|TGG		0.582	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
OCIAD1	54940	broad.mit.edu	37	4	48853837	48853837	+	Missense_Mutation	SNP	A	A	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:48853837A>C	ENST00000381473.3	+	7	810	c.392A>C	c.(391-393)aAg>aCg	p.K131T	OCIAD1_ENST00000513391.2_Missense_Mutation_p.K131T|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000425583.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000509122.1_Missense_Mutation_p.K104T|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000264312.7_Missense_Mutation_p.K131T|OCIAD1_ENST00000508293.1_Missense_Mutation_p.K131T|OCIAD1_ENST00000396448.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000444354.2_Missense_Mutation_p.K131T|OCIAD1_ENST00000506801.1_Missense_Mutation_p.K77T	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	131						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TATTATCAAAAGTCAAAATAT	0.333																																						uc010igk.3																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(406-408)aAg>aCg		Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.							86.0	82.0	84.0					4																	48853837		2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48853837A>C	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.392A>C	4.37:g.48853837A>C	ENSP00000370882:p.Lys131Thr					OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyr.3_Missense_Mutation_p.K131T|OCIAD1_uc021xoc.1_Missense_Mutation_p.K131T	p.K136T	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN			6	623	+			131					C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.407A>C	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621286	0.14193	.	.	ENSG00000109180	ENST00000509122;ENST00000505922;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T	0.50548	0.88;0.76;0.74;0.74;0.88;0.77;0.77;0.88;0.88	5.55	3.15	0.36227	.	0.533866	0.20942	N	0.082912	T	0.31979	0.0814	L	0.35723	1.085	0.29986	N	0.817302	B;B;B;B	0.30361	0.181;0.096;0.277;0.011	B;B;B;B	0.27380	0.042;0.049;0.079;0.005	T	0.21280	-1.0250	10	0.19147	T	0.46	-7.3977	7.6986	0.28608	0.8319:0.0:0.1681:0.0	.	104;131;131;131	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	T	104;104;131;131;131;131;131;131;77;77;77;77;131;131;131	ENSP00000264312:K131T;ENSP00000379725:K131T;ENSP00000426386:K131T;ENSP00000427389:K131T;ENSP00000370882:K131T;ENSP00000399656:K131T;ENSP00000416943:K131T;ENSP00000423002:K131T;ENSP00000423909:K131T	ENSP00000264312:K131T	K	+	2	0	OCIAD1	48548594	0.998000	0.40836	0.979000	0.43373	0.319000	0.28217	1.773000	0.38563	0.417000	0.25871	0.477000	0.44152	AAG		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830	
CABS1	85438	broad.mit.edu	37	4	71201726	71201726	+	Missense_Mutation	SNP	G	G	A	rs139939232		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71201726G>A	ENST00000273936.5	+	1	1044	c.970G>A	c.(970-972)Gtt>Att	p.V324I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	324					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATATGACTTCGTTGTCCCTGC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21759	0.0		0.0	False		,,,				2504	0.001					uc003hff.3																			0		p.V324V(2)|p.F323F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(970-972)Gtt>Att		Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108.0	98.0	102.0		970	-4.8	0.0	4	dbSNP_134	102	0,8600		0,0,4300	no	missense	CABS1	NM_033122.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	324/396	71201726	1,13005	2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201726G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.970G>A	4.37:g.71201726G>A	ENSP00000273936:p.Val324Ile					CABS1_uc021xoz.1_Missense_Mutation_p.V324I	p.V324I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			0	1056	+			324					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.970G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	4.865	0.160864	0.09287	2.27E-4	0.0	ENSG00000145309	ENST00000273936	T	0.23754	1.89	4.13	-4.75	0.03239	.	1.151220	0.06701	N	0.771370	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.34279	-0.9835	10	0.20046	T	0.44	-7.7287	7.1157	0.25414	0.6139:0.0:0.2572:0.1289	.	324	Q96KC9	CABS1_HUMAN	I	324	ENSP00000273936:V324I	ENSP00000273936:V324I	V	+	1	0	CABS1	71236315	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.330000	0.07925	-1.286000	0.02384	-0.793000	0.03317	GTT		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
ENAM	10117	broad.mit.edu	37	4	71507774	71507774	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71507774C>T	ENST00000396073.3	+	9	912	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	211					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTGGGGGTCGCCCTCCTTA	0.398																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(631-633)Cgc>Tgc		Homo sapiens enamelin (ENAM), mRNA.							132.0	146.0	141.0					4																	71507774		2199	4300	6499	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507774C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.631C>T	4.37:g.71507774C>T	ENSP00000379383:p.Arg211Cys						p.R211C	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	912	+			211					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.631C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250152	0.59212	.	.	ENSG00000132464	ENST00000396073	T	0.70749	-0.51	5.89	3.09	0.35607	.	0.221096	0.32687	N	0.005775	T	0.68329	0.2989	M	0.84433	2.695	0.39345	D	0.965641	B	0.31100	0.308	B	0.26202	0.067	T	0.69855	-0.5032	10	0.87932	D	0	-5.9093	6.5452	0.22402	0.3187:0.5992:0.0:0.0821	.	211	Q9NRM1	ENAM_HUMAN	C	211	ENSP00000379383:R211C	ENSP00000379383:R211C	R	+	1	0	ENAM	71726638	0.808000	0.29022	0.971000	0.41717	0.819000	0.46315	1.532000	0.36029	0.850000	0.35239	-0.156000	0.13503	CGC		0.398	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
AFP	174	broad.mit.edu	37	4	74310789	74310789	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:74310789G>T	ENST00000395792.2	+	7	893	c.793G>T	c.(793-795)Gta>Tta	p.V265L	AFP_ENST00000226359.2_Missense_Mutation_p.V265L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	265	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGCCCATGTACATGAGCA	0.388									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(793-795)Gta>Tta		Homo sapiens alpha-fetoprotein (AFP), mRNA.							115.0	110.0	112.0					4																	74310789		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74310789G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.793G>T	4.37:g.74310789G>T	ENSP00000379138:p.Val265Leu					AFP_uc011cbg.1_Missense_Mutation_p.V39L	p.V265L	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	840	+	Breast(15;0.00102)		265			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.793G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324120	0.05350	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.71934	-0.61;-0.61	5.43	-9.99	0.00435	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.845950	0.02165	N	0.059169	T	0.48714	0.1515	N	0.11560	0.145	0.09310	N	1	B;B	0.19445	0.026;0.036	B;B	0.30105	0.111;0.055	T	0.49504	-0.8933	10	0.66056	D	0.02	.	6.3482	0.21361	0.2611:0.1034:0.5337:0.1017	.	107;265	B4DMX4;P02771	.;FETA_HUMAN	L	265	ENSP00000379138:V265L;ENSP00000226359:V265L	ENSP00000226359:V265L	V	+	1	0	AFP	74529653	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.768000	0.04715	-1.710000	0.01397	-0.145000	0.13849	GTA		0.388	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3		
IRF2	3660	broad.mit.edu	37	4	185310216	185310216	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:185310216C>T	ENST00000393593.3	-	9	953	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	249					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCAGTGTGGCCGCCCCTTTCA	0.502																																						uc003iwf.4																			0		p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(745-747)cGg>cAg		Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.							141.0	119.0	127.0					4																	185310216		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310216C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.746G>A	4.37:g.185310216C>T	ENSP00000377218:p.Arg249Gln						p.R249Q	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	8	946	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	249					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.746G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285880	0.40394	.	.	ENSG00000168310	ENST00000393593;ENST00000502750	T;T	0.81415	-1.49;-1.49	5.31	5.31	0.75309	.	0.344059	0.27871	N	0.017502	T	0.66684	0.2814	L	0.36672	1.1	0.30867	N	0.732834	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.05525	T	0.97	-12.301	9.7261	0.40333	0.0:0.8485:0.0:0.1515	.	249	P14316	IRF2_HUMAN	Q	249;106	ENSP00000377218:R249Q;ENSP00000423074:R106Q	ENSP00000377218:R249Q	R	-	2	0	IRF2	185547210	0.867000	0.29959	0.955000	0.39395	0.902000	0.53008	1.900000	0.39828	2.769000	0.95229	0.555000	0.69702	CGG		0.502	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
RAD50	10111	broad.mit.edu	37	5	131927096	131927096	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr5:131927096A>G	ENST00000265335.6	+	10	2020	c.1633A>G	c.(1633-1635)Aaa>Gaa	p.K545E	RAD50_ENST00000378823.3_Missense_Mutation_p.K406E			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	545					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCAAAGACAAAGTATGATT	0.378								Homologous recombination																														uc003kxi.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1633-1635)Aaa>Gaa	Homologous recombination	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.							87.0	78.0	81.0					5																	131927096		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131927096A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1633A>G	5.37:g.131927096A>G	ENSP00000265335:p.Lys545Glu					RAD50_uc003kxh.3_Missense_Mutation_p.K406E	p.K545E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	2034	+		all_cancers(142;0.0368)|Breast(839;0.198)	545					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1633A>G	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.9|28.9	4.959860|4.959860	0.92791|0.92791	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000434288	T;T|.	0.05139|.	3.49;3.72|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74535|0.74535	0.3729|0.3729	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.55667|.	0.781|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|5	0.25106|.	T|.	0.35|.	-28.6629|-28.6629	16.4484|16.4484	0.83959|0.83959	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	545|.	Q92878|.	RAD50_HUMAN|.	E|R	406;545|43	ENSP00000368100:K406E;ENSP00000265335:K545E|.	ENSP00000265335:K545E|.	K|Q	+|+	1|2	0|0	RAD50|RAD50	131954995|131954995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.730000|8.730000	0.91510|0.91510	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
HIST1H2AA	221613	broad.mit.edu	37	6	25726546	25726546	+	Silent	SNP	C	C	T	rs187505332		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:25726546C>T	ENST00000297012.3	-	1	244	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	70						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A70A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TATCGCGAGACGCATTGCCTG	0.522																																						uc003nfc.3																			1	Substitution - coding silent(1)	p.A70A(2)|p.A70E(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(208-210)gcG>gcA		Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.							301.0	238.0	259.0					6																	25726546		2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726546C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.210G>A	6.37:g.25726546C>T						HIST1H2BA_uc003nfd.3_5'Flank	p.A70A	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			0	245	-			70						Silent	SNP	ENST00000297012.3	37	c.210G>A	CCDS4562.1																																																																																				0.522	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745	
C2	717	broad.mit.edu	37	6	31901972	31901972	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:31901972C>T	ENST00000299367.5	+	6	1021	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R117C|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R249C|C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	249				R -> S (in Ref. 9; AA sequence). {ECO:0000305}.	complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCAAATCCAGCGCTCTGGTCA	0.547																																						uc003nyf.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(745-747)Cgc>Tgc		Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.							123.0	126.0	125.0					6																	31901972		2203	4300	6503	SO:0001583	missense	717				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901972C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.745C>T	6.37:g.31901972C>T	ENSP00000299367:p.Arg249Cys					CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R249C|CFB_uc010jtk.3_Missense_Mutation_p.R117C|CFB_uc011doq.2_Missense_Mutation_p.R220C|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	p.R249C	NM_000063	NP_000054	P00751	CFAB_HUMAN			5	1009	+			265					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.745C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261253	0.80246	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.46	4.55	0.56014	.	0.000000	0.39687	N	0.001295	D	0.84520	0.5490	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.77557	0.99;0.976;0.863;0.945	D	0.85570	0.1233	9	0.72032	D	0.01	-23.9683	12.0857	0.53695	0.1714:0.8286:0.0:0.0	.	220;117;249;249	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	C	126;249;117;187;249;108	ENSP00000406121:R126C;ENSP00000299367:R249C;ENSP00000395683:R117C;ENSP00000391354:R187C;ENSP00000406190:R249C;ENSP00000419048:R108C	ENSP00000299367:R249C	R	+	1	0	C2	32009951	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.324000	0.33712	2.726000	0.93360	0.655000	0.94253	CGC		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
PPP2R5D	5528	broad.mit.edu	37	6	42976451	42976451	+	Silent	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:42976451A>G	ENST00000485511.1	+	10	1226	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	PPP2R5D_ENST00000394110.3_Silent_p.Q317Q|PPP2R5D_ENST00000472118.1_Silent_p.Q341Q|PPP2R5D_ENST00000461010.1_Silent_p.Q243Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	349					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGGTACAATTCCTGGAGA	0.527																																					Melanoma(63;587 1613 29742 31770)	uc003oth.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(1045-1047)caA>caG		Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.							80.0	72.0	75.0					6																	42976451		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42976451A>G	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1047A>G	6.37:g.42976451A>G						MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Silent_p.Q243Q|PPP2R5D_uc011dva.2_Silent_p.Q198Q|PPP2R5D_uc003oti.3_Silent_p.Q198Q|PPP2R5D_uc021yzq.1_Silent_p.Q317Q|PPP2R5D_uc003otj.3_Intron	p.Q349Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	1133	+			349					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.1047A>G	CCDS4878.1																																																																																				0.527	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	
SUPT3H	8464	broad.mit.edu	37	6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:44988338C>T	ENST00000371459.1	-	4	383	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SUPT3H_ENST00000371461.2_Missense_Mutation_p.R84Q|SUPT3H_ENST00000306867.5_Missense_Mutation_p.R73Q|SUPT3H_ENST00000371460.1_Missense_Mutation_p.R84Q	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	155					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.R73L(1)|p.R84L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCTTGCTCCCCGCAGCTGAGA	0.318																																						uc003oxp.3																			2	Substitution - Missense(2)	p.R73L(1)|p.R84L(1)	lung(2)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(217-219)cGg>cAg		Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.							50.0	52.0	51.0					6																	44988338		2203	4298	6501	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44988338C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.218G>A	6.37:g.44988338C>T	ENSP00000360514:p.Arg73Gln					SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc003oxo.3_Missense_Mutation_p.R84Q|SUPT3H_uc011dvv.2_5'UTR|SUPT3H_uc011dvw.2_5'UTR	p.R73Q	NM_003599	NP_003590	O75486	SUPT3_HUMAN			3	384	-			155					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.218G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715149	0.68844	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.61392	0.11;0.42;0.42;0.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	M	0.79475	2.455	0.52501	D	0.999951	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.986	T	0.73792	-0.3871	10	0.56958	D	0.05	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	84;155	O75486-3;O75486	.;SUPT3_HUMAN	Q	84;73;73;84	ENSP00000360515:R84Q;ENSP00000360514:R73Q;ENSP00000306718:R73Q;ENSP00000360516:R84Q	ENSP00000306718:R73Q	R	-	2	0	SUPT3H	45096316	0.971000	0.33674	0.933000	0.37362	0.859000	0.49053	5.360000	0.66086	2.941000	0.99782	0.655000	0.94253	CGG		0.318	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
STXBP5	134957	broad.mit.edu	37	6	147631323	147631323	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:147631323G>T	ENST00000321680.6	+	10	1021	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	STXBP5_ENST00000367481.3_Missense_Mutation_p.D341Y|STXBP5_ENST00000367480.3_Missense_Mutation_p.D341Y|STXBP5_ENST00000179882.6_Missense_Mutation_p.D12Y	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	341					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCTAGAAATGGACTATTCAAT	0.368																																						uc003qlz.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1021-1023)Gac>Tac		Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.							120.0	122.0	121.0					6																	147631323		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147631323G>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1021G>T	6.37:g.147631323G>T	ENSP00000321826:p.Asp341Tyr					STXBP5_uc010khz.2_Missense_Mutation_p.D341Y|STXBP5_uc003qly.3_Missense_Mutation_p.D12Y	p.D341Y	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	9	1196	+		Ovarian(120;0.0164)	341					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1021G>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938279	0.92526	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.14022	2.55;2.54;2.66;3.12	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.999;0.997;0.913	T	0.01648	-1.1304	10	0.87932	D	0	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	341;341;12	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	Y	341;341;341;12	ENSP00000356451:D341Y;ENSP00000321826:D341Y;ENSP00000356450:D341Y;ENSP00000179882:D12Y	ENSP00000179882:D12Y	D	+	1	0	STXBP5	147673016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.820000	0.97059	0.650000	0.86243	GAC		0.368	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
CDK13	8621	broad.mit.edu	37	7	40039057	40039057	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:40039057G>A	ENST00000181839.4	+	4	2745	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.G714S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTGGAGAAGGTACTTACGG	0.413																																						uc003thh.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2140-2142)Ggt>Agt		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							115.0	116.0	115.0					7																	40039057		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40039057G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2140G>A	7.37:g.40039057G>A	ENSP00000181839:p.Gly714Ser					CDK13_uc003thi.4_Missense_Mutation_p.G714S|CDK13_uc011kbf.2_Missense_Mutation_p.G100S	p.G714S	NM_003718	NP_003709	Q14004	CDK13_HUMAN			3	2422	+			714			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2140G>A	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566683	0.96540	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	D;D	0.96334	-3.98;-3.98	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98960	0.9646	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99312	1.0904	8	.	.	.	-11.2883	19.5122	0.95146	0.0:0.0:1.0:0.0	.	100;714;714	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	S	714	ENSP00000181839:G714S;ENSP00000340557:G714S	.	G	+	1	0	CDK13	40005582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.612000	0.88384	0.643000	0.83706	GGT		0.413	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
POM121L12	285877	broad.mit.edu	37	7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632																																						uc003tpz.3																			2	Substitution - Missense(2)	p.A270V(4)	large_intestine(1)|endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(808-810)gCg>gTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							49.0	55.0	53.0					7																	53104173		2017	4179	6196	SO:0001583	missense	285877							g.chr7:53104173C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.809C>T	7.37:g.53104173C>T	ENSP00000386133:p.Ala270Val						p.A270V	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	825	+			270					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.809C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807834	0.16467	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.20240	-1.0281	9	0.54805	T	0.06	.	0.7833	0.01044	0.2064:0.3456:0.1383:0.3097	.	270	Q8N7R1	P1L12_HUMAN	V	270	ENSP00000386133:A270V	ENSP00000386133:A270V	A	+	2	0	POM121L12	53071667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.654000	0.05354	-1.936000	0.01048	-1.243000	0.01532	GCG		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|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 fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
FKBP9P1	360132	broad.mit.edu	37	7	55755533	55755533	+	RNA	SNP	G	G	A	rs62455750	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:55755533G>A	ENST00000455909.1	-	0	473				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						TCTCGCCAACGCACATCTCTC	0.517													G|||	91	0.0181709	0.0015	0.0288	5008	,	,		17212	0.001		0.0427	False		,,,				2504	0.0256					uc010kzl.3																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(358-360)tgC>tgT		Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.							52.0	60.0	57.0					7																	55755533		692	1590	2282			360132							g.chr7:55755533G>A																													7.37:g.55755533G>A						FKBP9L_uc010kzk.3_Silent_p.C9C|FKBP9L_uc003tqt.3_Silent_p.C9C|FKBP9L_uc011kcs.2_Silent_p.C9C	p.C120C							3	460	-								B2R7H1	Silent	SNP	ENST00000455909.1	37	c.360C>T																																																																																					0.517	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2		
CYP3A4	1576	broad.mit.edu	37	7	99366124	99366124	+	Splice_Site	SNP	C	C	T	rs547453529		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:99366124C>T	ENST00000336411.2	-	7	706	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	CYP3A4_ENST00000354593.2_Splice_Site_p.V25I|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	175					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCCCCAAAGACGCTGAGTGGA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19632	0.0		0.001	False		,,,				2504	0.0					uc003urv.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.e7-1		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						132.0	119.0	123.0					7																	99366124		2203	4300	6503	SO:0001630	splice_region_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99366124C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.522-1G>A	7.37:g.99366124C>T						CYP3A4_uc003urw.2_Splice_Site_p.D174_splice|CYP3A4_uc011kiz.2_Splice_Site_p.D133_splice	p.D174_splice	NM_017460	NP_059488	P08684	CP3A4_HUMAN			7	629	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		174		D -> H (in allele CYP3A4*10).			P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.522_splice	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	3.018	-0.202475	0.06219	.	.	ENSG00000160868	ENST00000354593;ENST00000336411;ENST00000544160	T;T	0.67698	3.58;-0.28	4.32	-8.64	0.00874	.	0.896444	0.09671	N	0.771088	T	0.27278	0.0669	N	0.03930	-0.32	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	4.6888	0.12771	0.3416:0.3714:0.0:0.2871	.	25;102;175;175;175	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	I	25;175;31	ENSP00000346607:V25I;ENSP00000337915:V175I	ENSP00000337915:V175I	V	-	1	0	CYP3A4	99204060	0.000000	0.05858	0.002000	0.10522	0.470000	0.32858	-1.609000	0.02066	-1.896000	0.01102	-0.678000	0.03780	GTC		0.448	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		Missense_Mutation
SH2B2	10603	broad.mit.edu	37	7	101943880	101943880	+	Missense_Mutation	SNP	G	G	A	rs535281921	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:101943880G>A	ENST00000536178.1	+	2	220	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	SH2B2_ENST00000306803.8_Missense_Mutation_p.V16I			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	0					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						cccggtcccagtcccggtccc	0.706																																						uc011kko.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(175-177)Gtc>Atc		Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.							17.0	18.0	18.0					7																	101943880		1692	3744	5436	SO:0001583	missense	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101943880G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.175G>A	7.37:g.101943880G>A	ENSP00000440273:p.Val59Ile						p.V59I	NM_020979	NP_066189	O14492	SH2B2_HUMAN			1	220	+			16					A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37	c.175G>A		.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775454	0.02951	.	.	ENSG00000160999	ENST00000536178;ENST00000444095;ENST00000306803	T;T;T	0.45276	0.9;1.53;1.35	.	.	.	.	1.153510	0.06318	N	0.703948	T	0.29850	0.0746	L	0.34521	1.04	0.19775	N	0.999959	B	0.30068	0.267	B	0.28991	0.097	T	0.32188	-0.9916	7	0.32370	T	0.25	-3.921	.	.	.	.	16	O14492	SH2B2_HUMAN	I	59;16;16	ENSP00000440273:V59I;ENSP00000401883:V16I;ENSP00000304701:V16I	ENSP00000304701:V16I	V	+	1	0	SH2B2	101730600	0.668000	0.27493	0.076000	0.20297	0.672000	0.39443	1.076000	0.30729	0.161000	0.19458	0.164000	0.16699	GTC		0.706	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979	
C7orf66	154907	broad.mit.edu	37	7	108524569	108524569	+	Silent	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:108524569G>T	ENST00000379007.2	-	1	75	c.21C>A	c.(19-21)ccC>ccA	p.P7P		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	7						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GACCATCACTGGGTGTCATCA	0.413																																						uc003vfo.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(19-21)ccC>ccA		Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.							159.0	126.0	137.0					7																	108524569		2203	4300	6503	SO:0001819	synonymous_variant	154907					integral to membrane		g.chr7:108524569G>T	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.21C>A	7.37:g.108524569G>T							p.P7P	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			0	69	-			7						Silent	SNP	ENST00000379007.2	37	c.21C>A	CCDS34735.1																																																																																				0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607	
AOC1	26	broad.mit.edu	37	7	150554147	150554147	+	Missense_Mutation	SNP	C	C	T	rs370771602	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:150554147C>T	ENST00000493429.1	+	4	1173	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	AOC1_ENST00000467291.1_Missense_Mutation_p.R197C|AOC1_ENST00000360937.4_Missense_Mutation_p.R197C|AOC1_ENST00000416793.2_Missense_Mutation_p.R197C			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	197					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TTCTGGCCAGCGCCGCAGTTG	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		17689	0.0		0.0	False		,,,				2504	0.002					uc003why.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(589-591)Cgc>Tgc		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)	C	CYS/ARG	0,3908		0,0,1954	57.0	61.0	60.0		589	5.6	1.0	7		60	1,8285		0,1,4142	no	missense	ABP1	NM_001091.2	180	0,1,6096	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	197/752	150554147	1,12193	1954	4143	6097	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554147C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.589C>T	7.37:g.150554147C>T	ENSP00000418614:p.Arg197Cys					ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	p.R197C	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	4807	+	all_neural(206;0.219)		197					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.589C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766268	0.69878	0.0	1.21E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.55	5.55	0.83447	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.156479	0.56097	D	0.000034	D	0.89966	0.6868	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91433	0.5167	10	0.72032	D	0.01	-2.798	16.9905	0.86352	0.0:1.0:0.0:0.0	.	197;197	C9J690;P19801	.;ABP1_HUMAN	C	197;197;197;197;197;73;197	ENSP00000418614:R197C;ENSP00000418328:R197C;ENSP00000418557:R197C;ENSP00000354193:R197C;ENSP00000411613:R197C;ENSP00000417392:R197C	ENSP00000354193:R197C	R	+	1	0	ABP1	150185080	1.000000	0.71417	0.996000	0.52242	0.729000	0.41735	4.569000	0.60865	2.610000	0.88304	0.655000	0.94253	CGC		0.577	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
DCSTAMP	81501	broad.mit.edu	37	8	105361359	105361359	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:105361359C>T	ENST00000297581.2	+	2	628	c.579C>T	c.(577-579)gtC>gtT	p.V193V	DCSTAMP_ENST00000517991.1_Silent_p.V193V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	193					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGGGGAAGTCCTGAGCGTCT	0.527																																						uc003ylx.1																			0											c.(577-579)gtC>gtT		Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							105.0	97.0	99.0					8																	105361359		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361359C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.579C>T	8.37:g.105361359C>T							p.V193V	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1	628	+			193					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.579C>T	CCDS6301.1																																																																																				0.527	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
MAPK15	225689	broad.mit.edu	37	8	144801639	144801639	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:144801639G>A	ENST00000338033.4	+	7	827	c.708G>A	c.(706-708)ccG>ccA	p.P236P	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Silent_p.P236P|MAPK15_ENST00000395107.4_Silent_p.P253P	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATCCCACCGCCATCTGAGG	0.662																																						uc003yzj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(706-708)ccG>ccA		Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.							35.0	34.0	35.0					8																	144801639		2203	4299	6502	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801639G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.708G>A	8.37:g.144801639G>A							p.P236P	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		6	749	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236			Protein kinase.		Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.708G>A	CCDS6409.2																																																																																				0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021	
ELAVL2	1993	broad.mit.edu	37	9	23701591	23701591	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:23701591C>A	ENST00000397312.2	-	5	773	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.G167C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G167C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G196C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G167C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	167	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACCCTACACCCCTTGATATG	0.443																																						uc003zpu.3																			0		p.G167D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(499-501)Ggt>Tgt		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.							128.0	130.0	130.0					9																	23701591		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701591C>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.499G>T	9.37:g.23701591C>A	ENSP00000380479:p.Gly167Cys					ELAVL2_uc003zps.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.3_Missense_Mutation_p.G167C	p.G167C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	774	-			167			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.499G>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753579	0.89753	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.61627	0.09;2.43;2.43;2.43;0.09;1.66	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79465	-0.1792	10	0.59425	D	0.04	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	167;167	Q12926;Q12926-2	ELAV2_HUMAN;.	C	167;167;167;167;167;195;32;167	ENSP00000223951:G167C;ENSP00000380479:G167C;ENSP00000440998:G167C;ENSP00000369460:G167C;ENSP00000391757:G32C;ENSP00000412602:G167C	ENSP00000223951:G167C	G	-	1	0	ELAVL2	23691591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.812000	0.96745	0.563000	0.77884	GGT		0.443	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
TMEM215	401498	broad.mit.edu	37	9	32784490	32784490	+	Silent	SNP	C	C	T	rs535200766		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:32784490C>T	ENST00000342743.5	+	2	674	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	103						integral component of membrane (GO:0016021)		p.S103S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCTAGAATCCGGCAAGGGGA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19511	0.0		0.0	False		,,,				2504	0.0					uc022bfh.1																			1	Substitution - coding silent(1)	p.S103S(2)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(307-309)tcC>tcT		Homo sapiens transmembrane protein 215 (TMEM215), mRNA.							53.0	56.0	55.0					9																	32784490		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784490C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.309C>T	9.37:g.32784490C>T						TMEM215_uc003zri.4_Silent_p.S103S	p.S103S	NM_212558	NP_997723	Q68D42	TM215_HUMAN			0	309	+			103					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.309C>T	CCDS6530.1																																																																																				0.602	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
BSPRY	54836	broad.mit.edu	37	9	116122968	116122968	+	Missense_Mutation	SNP	G	G	A	rs548730981		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:116122968G>A	ENST00000374183.4	+	3	521	c.482G>A	c.(481-483)cGc>cAc	p.R161H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	161					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACACCATCCGCACTGGCCTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17965	0.001		0.0	False		,,,				2504	0.0					uc004bhg.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(481-483)cGc>cAc		Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.							31.0	36.0	34.0					9																	116122968		2133	4246	6379	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116122968G>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.482G>A	9.37:g.116122968G>A	ENSP00000363298:p.Arg161His					BSPRY_uc010muw.3_Missense_Mutation_p.R161H	p.R161H	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			2	530	+			161					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.482G>A	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001282	0.93227	.	.	ENSG00000119411	ENST00000374183	T	0.04603	3.59	6.01	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.80764	0.495;0.994	T	0.02736	-1.1117	10	0.45353	T	0.12	-15.2063	14.5278	0.67900	0.07:0.0:0.93:0.0	.	161;161	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	H	161	ENSP00000363298:R161H	ENSP00000363298:R161H	R	+	2	0	BSPRY	115162789	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.756000	0.68757	1.566000	0.49654	0.644000	0.83932	CGC		0.602	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688	
MXRA5	25878	broad.mit.edu	37	X	3238673	3238673	+	Missense_Mutation	SNP	T	T	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:3238673T>C	ENST00000217939.6	-	5	5207	c.5053A>G	c.(5053-5055)Agt>Ggt	p.S1685G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1685						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAAACTTACTAGGAATGCTG	0.438																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5053-5055)Agt>Ggt		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							166.0	158.0	161.0					X																	3238673		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238673T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5053A>G	X.37:g.3238673T>C	ENSP00000217939:p.Ser1685Gly						p.S1685G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	5210	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1685					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5053A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	6.265	0.416970	0.11870	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64618	-0.11	3.2	-4.34	0.03666	.	1.230340	0.06038	N	0.654396	T	0.40145	0.1105	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14172	-1.0482	10	0.23891	T	0.37	.	5.52	0.16927	0.0:0.3592:0.1428:0.498	.	1685	Q9NR99	MXRA5_HUMAN	G	1685	ENSP00000217939:S1685G	ENSP00000217939:S1685G	S	-	1	0	MXRA5	3248673	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-1.139000	0.02881	0.352000	0.21897	AGT		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MAGEB1	4112	broad.mit.edu	37	X	30269312	30269312	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:30269312G>T	ENST00000378981.3	+	4	1023	c.702G>T	c.(700-702)gaG>gaT	p.E234D	MAGEB1_ENST00000397548.2_Missense_Mutation_p.E234D|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E234D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	234	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGAGAGGAGCACTTAATCT	0.498																																						uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(700-702)gaG>gaT		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							76.0	63.0	68.0					X																	30269312		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269312G>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.702G>T	X.37:g.30269312G>T	ENSP00000368264:p.Glu234Asp					MAGEB1_uc004dcc.3_Missense_Mutation_p.E234D|MAGEB1_uc004dcd.3_Missense_Mutation_p.E234D|MAGEB1_uc004dce.3_Missense_Mutation_p.E234D	p.E234D	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	702	+			234			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.702G>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199133	0.38806	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.05319	3.46;3.46;3.46	3.99	-2.27	0.06846	.	2.983420	0.01808	N	0.033301	T	0.09862	0.0242	L	0.57536	1.79	0.09310	N	1	P	0.35383	0.498	B	0.40329	0.326	T	0.26538	-1.0100	10	0.66056	D	0.02	.	3.2903	0.06947	0.3041:0.0:0.2365:0.4593	.	234	P43366	MAGB1_HUMAN	D	234	ENSP00000368264:E234D;ENSP00000380683:E234D;ENSP00000380681:E234D	ENSP00000368264:E234D	E	+	3	2	MAGEB1	30179233	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.520000	0.06252	-0.766000	0.04639	0.600000	0.82982	GAG		0.498	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
FAM47A	158724	broad.mit.edu	37	X	34150178	34150178	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:34150178C>T	ENST00000346193.3	-	1	269	c.218G>A	c.(217-219)cGt>cAt	p.R73H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	73										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTCGTCACGGCGACAAAC	0.532																																						uc004ddg.3																			0		p.R72C(1)|p.R72H(1)|p.R73C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(217-219)cGt>cAt		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							90.0	85.0	87.0					X																	34150178		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150178C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.218G>A	X.37:g.34150178C>T	ENSP00000345029:p.Arg73His						p.R73H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	270	-			73					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.218G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	3.445	-0.113176	0.06881	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	-1.18	0.09617	.	.	.	.	.	T	0.14141	0.0342	L	0.60455	1.87	0.09310	N	1	P	0.38280	0.625	B	0.28709	0.093	T	0.24512	-1.0158	9	0.18710	T	0.47	.	6.6073	0.22731	0.0:0.6224:0.3776:0.0	.	73	Q5JRC9	FA47A_HUMAN	H	73	ENSP00000345029:R73H	ENSP00000345029:R73H	R	-	2	0	FAM47A	34060099	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.250000	0.18235	-0.498000	0.06632	-0.368000	0.07277	CGT		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
ZNF674	641339	broad.mit.edu	37	X	46387797	46387797	+	Missense_Mutation	SNP	G	G	A	rs202006634		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:46387797G>A	ENST00000523374.1	-	5	436	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ZNF674_ENST00000414387.2_Missense_Mutation_p.R76W	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587																																						uc004dgr.3																			0				breast(2)	2						c.(226-228)Cgg>Tgg		Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.							109.0	105.0	106.0					X																	46387797		2203	4300	6503	SO:0001583	missense	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46387797G>A	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.226C>T	X.37:g.46387797G>A	ENSP00000429148:p.Arg76Trp					ZNF674_uc011mlg.2_Missense_Mutation_p.R76W|ZNF674_uc022bvl.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			4	453	-			76			KRAB.		B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	c.226C>T	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558643	0.13436	.	.	ENSG00000251192	ENST00000523374;ENST00000414387;ENST00000518708	T;T;T	0.05139	3.49;3.5;5.55	2.55	-2.99	0.05497	Krueppel-associated box (1);	.	.	.	.	T	0.04952	0.0133	L	0.49126	1.545	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.002	B;B;B	0.04013	0.0;0.001;0.0	T	0.43782	-0.9370	9	0.31617	T	0.26	.	1.243	0.01967	0.2343:0.1688:0.4261:0.1708	.	76;76;76	E9PHQ4;E5RHV3;Q2M3X9	.;.;ZN674_HUMAN	W	76	ENSP00000429148:R76W;ENSP00000428248:R76W;ENSP00000429646:R76W	ENSP00000428248:R76W	R	-	1	2	ZNF674	46272741	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.276000	0.02815	-0.551000	0.06175	0.458000	0.33432	CGG		0.587	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
ARHGEF9	23229	broad.mit.edu	37	X	62926262	62926262	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:62926262G>T	ENST00000253401.6	-	3	1057	c.257C>A	c.(256-258)cCc>cAc	p.P86H	ARHGEF9_ENST00000374870.4_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.P84H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.P33H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.P65H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	86					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GTCTGAATTGGGGTCCAGGTG	0.547																																						uc004dvl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(256-258)cCc>cAc		Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.							98.0	69.0	79.0					X																	62926262		2203	4299	6502	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62926262G>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.257C>A	X.37:g.62926262G>T	ENSP00000253401:p.Pro86His					ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvj.2_5'UTR|ARHGEF9_uc011mot.2_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.3_Missense_Mutation_p.P93H	p.P86H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN			2	1096	-			86					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.257C>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712932	0.89112	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374872	T;T;T;T	0.73047	0.86;0.86;-0.71;0.86	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	L	0.44542	1.39	0.80722	D	1	B;D;B	0.76494	0.016;0.999;0.003	B;D;B	0.80764	0.023;0.994;0.005	T	0.78695	-0.2104	10	0.42905	T	0.14	.	17.3085	0.87202	0.0:0.0:1.0:0.0	.	33;84;86	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	H	86;84;33;65	ENSP00000253401:P86H;ENSP00000364012:P84H;ENSP00000399994:P33H;ENSP00000364006:P65H	ENSP00000253401:P86H	P	-	2	0	ARHGEF9	62842987	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.815000	0.91973	2.405000	0.81733	0.600000	0.82982	CCC		0.547	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
THOC2	57187	broad.mit.edu	37	X	122799518	122799518	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:122799518C>T	ENST00000245838.8	-	12	1392	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	THOC2_ENST00000355725.4_Missense_Mutation_p.R454H|THOC2_ENST00000491737.1_Missense_Mutation_p.R339H	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	454					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGCCTATGCGCACCACTTT	0.358																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1360-1362)cGc>cAc		Homo sapiens THO complex 2 (THOC2), mRNA.							123.0	111.0	115.0					X																	122799518		1863	4088	5951	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122799518C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1361G>A	X.37:g.122799518C>T	ENSP00000245838:p.Arg454His					THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	p.R454H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			11	1393	-			454					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1361G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252998	0.95336	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	D	0.85864	0.5796	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88634	0.3171	9	0.87932	D	0	-4.8464	18.7856	0.91954	0.0:1.0:0.0:0.0	.	375;454	B4DKZ6;Q8NI27	.;THOC2_HUMAN	H	454;454;339;375	.	ENSP00000245838:R454H	R	-	2	0	THOC2	122627199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.382000	0.81193	0.600000	0.82982	CGC		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
STAG2	10735	broad.mit.edu	37	X	123215351	123215351	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123215351C>A	ENST00000371160.1	+	28	3187	c.2897C>A	c.(2896-2898)aCa>aAa	p.T966K	STAG2_ENST00000354548.5_Missense_Mutation_p.T897K|STAG2_ENST00000371157.3_Missense_Mutation_p.T966K|STAG2_ENST00000371144.3_Missense_Mutation_p.T966K|STAG2_ENST00000371145.3_Missense_Mutation_p.T966K|STAG2_ENST00000218089.9_Missense_Mutation_p.T966K|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	966					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGTTGAAAACAAGAGAAGCC	0.328																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2896-2898)aCa>aAa		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							102.0	96.0	98.0					X																	123215351		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123215351C>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2897C>A	X.37:g.123215351C>A	ENSP00000360202:p.Thr966Lys					STAG2_uc004etz.4_Missense_Mutation_p.T966K|STAG2_uc004eub.3_Missense_Mutation_p.T966K|STAG2_uc004euc.3_Missense_Mutation_p.T966K|STAG2_uc004eud.3_Missense_Mutation_p.T966K|STAG2_uc004eue.3_Missense_Mutation_p.T966K	p.T966K	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			27	3301	+			966					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2897C>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236913	0.95240	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.33438	1.79;1.42;1.41;1.41;1.79;1.41	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.71184	0.972;0.901	T	0.52102	-0.8620	10	0.38643	T	0.18	-1.9895	19.0619	0.93096	0.0:1.0:0.0:0.0	.	966;966	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	966;897;966;966;966;966	ENSP00000218089:T966K;ENSP00000346555:T897K;ENSP00000360202:T966K;ENSP00000360199:T966K;ENSP00000360187:T966K;ENSP00000360186:T966K	ENSP00000218089:T966K	T	+	2	0	STAG2	123043032	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.818000	0.86416	2.452000	0.82932	0.538000	0.68166	ACA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
TENM1	10178	broad.mit.edu	37	X	123870959	123870959	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123870959C>A	ENST00000371130.3	-	4	687	c.624G>T	c.(622-624)aaG>aaT	p.K208N	TENM1_ENST00000422452.2_Missense_Mutation_p.K208N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	208	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGGGGGTGGCTTCCTGGCAC	0.622																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(622-624)aaG>aaT		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							72.0	72.0	72.0					X																	123870959		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870959C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.624G>T	X.37:g.123870959C>A	ENSP00000360171:p.Lys208Asn					ODZ1_uc011muj.2_Missense_Mutation_p.K208N|ODZ1_uc004euj.3_Missense_Mutation_p.K208N	p.K208N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			3	688	-			208			Teneurin N-terminal.		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.624G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711244	0.48517	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30182	1.54;1.54	5.13	4.27	0.50696	Teneurin intracellular, N-terminal (2);	0.000000	0.50627	D	0.000114	T	0.29061	0.0722	N	0.22421	0.69	0.36139	D	0.846667	D;P;P	0.54207	0.965;0.901;0.912	P;P;P	0.51550	0.673;0.616;0.529	T	0.32666	-0.9898	10	0.62326	D	0.03	.	9.7226	0.40313	0.0:0.8147:0.0:0.1853	.	208;208;208	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	208	ENSP00000360171:K208N;ENSP00000403954:K208N	ENSP00000360171:K208N	K	-	3	2	ODZ1	123698640	0.952000	0.32445	1.000000	0.80357	0.997000	0.91878	0.082000	0.14847	0.933000	0.37291	0.600000	0.82982	AAG		0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
FLNA	2316	broad.mit.edu	37	X	153581719	153581719	+	Silent	SNP	C	C	T	rs372351673		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:153581719C>T	ENST00000369850.3	-	37	6203	c.5967G>A	c.(5965-5967)ccG>ccA	p.P1989P	FLNA_ENST00000422373.1_Silent_p.P1981P|FLNA_ENST00000369856.3_Silent_p.P122P|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.P1981P|FLNA_ENST00000344736.4_Silent_p.P1949P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1989					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(5965-5967)ccG>ccA		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.		C	,	0,3574		0,0,1502,570	54.0	60.0	58.0		5967,5943	-11.4	0.0	X		58	1,6560		0,1,2378,1803	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,3880,2373	TT,TC,CC,C		0.0152,0.0,0.0099	,	1989/2648,1981/2640	153581719	1,10134	2072	4182	6254	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581719C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5967G>A	X.37:g.153581719C>T						FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P	p.P1989P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			36	6216	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1989					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5967G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.491687	0.01009	0.0	1.52E-4	ENSG00000196924	ENST00000438732	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59553	-0.7433	4	.	.	.	.	3.8949	0.09135	0.1681:0.3241:0.3392:0.1686	.	.	.	.	H	214	.	.	R	-	2	0	FLNA	153234913	0.000000	0.05858	0.019000	0.16419	0.050000	0.14768	-6.277000	0.00072	-5.034000	0.00023	-0.422000	0.05995	CGC		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
F8	2157	broad.mit.edu	37	X	154185266	154185266	+	Missense_Mutation	SNP	C	C	A	rs368808810		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:154185266C>A	ENST00000360256.4	-	11	1918	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	573	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTTGTAGCAGATGAGGAG	0.448																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM062688	F8	M		c.(1717-1719)tGc>tTc		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						180.0	162.0	168.0					X																	154185266		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185266C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1718G>T	X.37:g.154185266C>A	ENSP00000353393:p.Cys573Phe						p.C573F	NM_000132	NP_000123	P00451	FA8_HUMAN			10	1889	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		573			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1718G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074923	0.76415	.	.	ENSG00000185010	ENST00000360256	D	0.99454	-5.92	5.19	5.19	0.71726	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.94423	3.535	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.97521	1.0073	10	0.87932	D	0	-14.8486	16.318	0.82935	0.0:1.0:0.0:0.0	.	573	P00451	FA8_HUMAN	F	573	ENSP00000353393:C573F	ENSP00000353393:C573F	C	-	2	0	F8	153838460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.952000	0.75989	2.155000	0.67459	0.600000	0.82982	TGC		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
